Saturday, October 4, 2014

To screen or not to screen ...

TAG of the Week:

Blog #2 due on Friday Oct 24 at 5pm (EST)

Read or listen to the article from NPR: 



Brianne and Matthew Wojtesta's neurologist explained she has had times in the past that she's had to explain to a parent that their child may develop some form of this disease at some point. She states "I can't tell you when, I can't tell you what it's going to look like. I can't tell you if there's any way to prevent it. And I can't tell you that we will be able to treat it if it develops." You can imagine how difficult that may be for a family to hear. 

Consider the perspective of both the research community and a newborns family regarding this test. Who are the stakeholders and what are the ethical implications present here? What are some important things to take into account when deciding if this should be a screening test mandated to all newborns? Remember, getting this test early enough may help alleviate symptoms and has been proven to save a child's life. 

After reading the article, are you in support of Krabbe screening? Explain why or why not.

50 comments:

  1. This article and these families’ stories present an interesting dilemma. With some families, the child won’t show signs of the disease until later in life, while others will show symptoms from birth. Some of the families whose child screened positive but wasn’t diagnosed would rather not have known so as to live the time they had with their child happily and at peace. However, the parents of children who have the disease or who died from it make a compelling argument that their child could have been saved with early detection. The treatment for Krabbe, while risky, has had success but only when you catch it very early. Additionally, it requires access to cord blood from an unrelated donor. It may be important to note that more and more American hospitals are practicing delayed cord clamping, due to studies that have shown that additional placental blood that flows to the newborn from delayed cord clamping can be highly beneficial (http://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Obstetric-Practice/Timing-of-Umbilical-Cord-Clamping-After-Birth). However, for better or for worse, there are limits on how much cord blood can be collected if delayed cord clamping is practiced. Overtime, this could impact the availability of cord blood.
    A mandated screening test for Krabbe would probably benefit more families than it would harm, especially considering that treatment is only possible when the child’s providers are aware of the disease. Some of the families whose children developed it later in life, or who screened positive but who weren’t diagnosed, expressed concern with living their lives in a constant state of fear of their child becoming deathly ill.
    I am in support of Krabbe screening simply because more lives will be saved with it than without. Even though it would be tortuous to be one of the families whose child might get sick at any moment, it’s better for public health in general to save as many lives as possible, which isn’t an option without early screening.

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  2. Deciding whether to screen for Krabbe really is an enormous dilemma and both options have genuine disadvantages. Hearing the personal story of a family who could have benefited from their daughter being screened is really heart wrenching, but we also have to keep in mind that even if she did screen positive early on, there is a chance she would have died from complications in treatment as well, just like those other cases mentioned in the article did. Krabbe is a disease with a very sad ending, but I think that I have to argue that screening for it is not reasonable at this time. It is such a rare disease and being screened positively for a genetic indicator often leaves families with vague results that can haunt them for the entire childhood of their baby. The anxiety and panic that this looming possibility causes in families that screen positive is a huge difficulty, and even those that test absolutely positive only have treatment options that are risky and questionable. I don’t think that the benefits of early detection are great enough to make the screening worthwhile. Ethically I don’t think that absence of screening would pose a problem until it is proven that screening really does have great possibilities for prevention without all the large risks present now, especially because the disease is such a rare one. Hopefully more research on the topic will lead to developments of better and safer treatments that will pose a better chance of saving children who do have Krabbe, and at that point a screening test would be much more useful and valuable.

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  3. It is a tough decision, but I would have to say that Krabbe screening should not be mandated.

    The treatment is risky but some may say that the risk is worth it when the alternative is death anyways. Some may feel that they have nothing left to lose so they would undergo the risky treatment. However, since diagnosing Krabbe is difficult and often ambiguous a person cannot be convinced that the alternative to treatment would be much worse than the risk. If a person knows that there is a slight chance that their child will develop Krabbe, opting for treatment could put a perfectly healthy child at tremendous risk. In New York, they only provided treatment for those with definite signs of Krabbe but even then - having a child die from an option that you as a parent chose must be a lot harder for parents to handle than having the child die naturally from an uncontrollable disease. If there is not an effective treatment, then it is unfair to make the parents constantly worry about the health of their child rather than enjoying the time they have with their kids -- especially since the disease is rare and a nonspecific screening would mean that a lot more people than necessary are suffering from this anxiety.

    Grantham says "Children are not being screened for Krabbe at birth and dying because of it." However, even when they are being screened and treated they are still dying. All that the screening is doing is causing unnecessary worry to parents and at best preparing them for the worst. However, a parent probably does worry about the worst potential outcome a lot of the times without the screening. Parents worry about disease, kidnapping and probably do consider what would happen in the worst case scenario. Screening test results would only worsen this worry since it adds a level of authority and pseudo-validity. Also, considering that the disease is rare and the test nonspecific, it would waste a lot of resources running diagnostic tests on perfectly healthy infants.

    The test should not be mandatory but researchers should ask parents if they would like to have their child screened as a part of research so that the screening test and treatment can be further developed and improved.

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    1. I believe that Veronica raises a very valid point in her response, "the test should not be mandatory but researchers should ask parents if they would like to have their child screened as a part of research so that the screening test and treatment can be further developed and improved." Conversely, I believe that it should be mandated because by getting a positive screening parents and physicians can work together in making a treatment plan for when the child does become sick. In this article parents who lost their child to Krabbe wished there was mandated screening, because it is a rare disease that many physicians are not knowledgable about. By not having mandated treatment, when a child does become sick it may become a guessing game for the physician to determine the cause is Krabbe disease. Therefore, I believe that mandated screening would be a proactive take on this disease. I do realize that the treatment available is not ideal. Therefore, even though i believe that it should be mandated, i think Veronica's point of asking parents at birth would be a great compromise.

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  4. The stakeholders are the families who have these babies that are diagnosed with diseases and cannot do anything due to the timing of the results. The ethical implications are that we are withholding information from parents when we could be helping their children by helping them by early intervention with early knowledge from the tests. I believe that there would be no harm in having these screening tests. Some important things to take into consideration are that is the test invasive or hurt the baby when the test takes place. Is there a cure for the disease? Is there a reason/benefit/advantage for the prescreening? If the screening is beneficial to the children then it should.

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  5. The controversy within the Kraabe screening is a difficult one. I am not sure whether or not I would choose to support such screening within the total US population. In class, we learned about Wilson and Junger’s criteria and I do not believe it meets all the requirements. Treatment is risky, and hasn’t proven to be very effective. Although cost isn’t mentioned, I cannot imagine that this new treatment is affordable for families or covered by health insurance. The incidence of this disease also does not seem high enough to require the testing. A way to further argue against testing would be to look at the positive predictive values and the sensitivity. Are we giving many families false positives, only to traumatize their psyche when they in fact have a perfectly healthy child? In this story, it appears that false positives may be more frequent than true positives. Also, the inaccurate ability to predict when this disease will begin to affect the child could also cause the family unnecessary trauma. So in all these ways, Kraabe screening should not be mandated.
    However, this disease is very serious, asymptomatic and early treatment (while risky) is the only option. Krabbe therefore meets half of the requirements. Not testing also would mean that children with Kraabe would have no chance at treatment and live in pain until it was diagnosed. In my opinion, the risks outweigh the benefits but I don’t know if it should be up to a board to keep testing from parents. Perhaps a good middle ground could be to offer the testing to new parents and explaining both the risks and rewards. I think most parents would want the testing anyways, but at least this option allows for more control over their situation.

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    1. I think Dea brings up an important point about the cost of any subsequent treatment that would be necessary after a positive screen and diagnosis for Krabbe (or any other rare disease that can be screened for in newborns). Though considering the cost of potential treatment is included in Wilson and Jugner's criteria, we usually focus more on the cost of the screening and diagnostic tests when deciding whether a screen is cost effective enough to implement. The most recent evaluations from Gallup indicate that the U.S. uninsured rate is at about 16%, while several million more Americans have high deductible policies that would make paying for expensive treatment even more difficult. Most parents who find out their child screens positive and is positively diagnosed with a rare disease would probably do their best to find enough money to pay for some treatment for their child. However, from an ethical and moral standpoint, it may not be fair to give parents no choice about whether their child should be screened for a rare, somewhat treatable, but expensive disease if they do not feel ready to know about and respond to that information. Thus, I think Dea's solution-- to offer parents with education about the risks and rewards of the screening test and allow them to make the choice --seems like a reasonable way to account for these potential financial concerns.

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  6. I generally would not support Krabbe testing in infants because it seems that the cons heavily outweigh the pros. Reading this article, the numerous cons really stick to me and the few pros that there are don’t seem enough to gain my support. The main reason to have this type of test is to catch the disease before it becomes symptomatic and to apply treatment as soon as possible, but the article states that many test results are unclear and ambiguous, and it is hard for doctors to act based on such unclear information. I think these ambiguous test results would make parents very anxious, because the only information they know is that their child has some form of Krabbes, and their doctors do not even know how it will play out, and doctors cannot even apply treatment. It seems like this anxiety would be unnecessary for something that cannot be treated even if parents knew before symptoms started. In my opinion, I think a lot of screening tests are to give people peace of mind, but something as complicated and uncertain as Krabbe test results cannot really provide that. Even if the doctors were to receive a very clear and informative test result for the presence of Krabbes, the treatments is risky, irreversible, and has caused complications and deaths in the past. In general, I do not believe just because a treatment is risky and life-threatening that one shouldn’t do it, but from the article, I have the impression that the Krabbes treatment is in its very early stages, which is why I listed this risky treatments as a reason to oppose Krabbes screening.

    The only reason why I would support this screening is to implement more research into it. I think one of the only ways to know more about this screening is to continue to build up on it. If more research is done, more successful treatments can also be developed and, and the whole process of detecting and treating Krabbes would get a lot better.

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    1. I disagree with Danny's statement that screening should bring peace of mind to parents, because the reason screening is done is to see if a newborn has a disease - what about those who have the disease? That would not bring peace of mind to the many that have been diagnosed. I believe screening is done to yes, give peace of mind to the families of those who do not have the disease, but also to inform parents of a possible disease so that the parents can become educated about the disease, better understand it, and their child can get diagnosed and receive treatment. If, in the case of Krabbe where effective treatments are not available, at least these children can contribute to research to be done to treat Krabbe in the future. The current treatments being used now, their check ups, etc. can provide vital information for finding effective treatments or cures in the future. Danny says more research should be done before implementing Krabbe screening, but I believe identifying newborns with the disease is one of the biggest steps we can take to do more research.

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  7. I feel very conflicted over the issue of screening for Krabbe in newborns. However, like Danny, I feel that there are not enough benefits of the screening to outweigh the negative aspects. The biggest problem I have with screening for Krabbe is that the treatment is still experimental, and even if the disease is detected early enough for treatment, the outcomes of the treatment are not very high. One of Wilson and Junger's criteria for screening tests is that there should be an acceptable treatment for the disease, and I do not think the treatment for Krabbe is sufficient to justify this. Additionally, the fact that results can come back ambiguous adds unnecessary stress and anxiety to the families of children who test in to that category for no reason.
    Yet, Christina Levasheff, who lost her son to Crabbe, said in the NPR article that parents of children with a terminal illness should have "knowledge and options and a choice." While I typically agree with that sentiment, I feel that the situation is different with Krabbe because treatment is not always feasible or effective.
    I think the best approach would be to offer screening for Krabbe if parents desire, but not require it, as suggested by Dr. Ross. Given the unsure nature of the disease and treatment even with a positive diagnosis, I think until a more consistent treatment is developed it is best to leave the choice up to parents.

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    1. I agree with Rachel that until a better treatment is developed it is best not to mandate screening. Currently, Krabbe disease has an uncertain diagnosis and the New York data from those who sought early treatment is not good. Of the 4 children who got treatment 2 died. Retrospectively though, parents whose kids develop Krabbe may wish they had known earlier and parents whose kids had flagged for Krabbe but did not develop the disease will wish they did not have to live though the fear.

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  8. This article brings up a controversial issue about Krabbe screening. But based on the information that is given, I don’t believe I would support Krabbe testing in newborns because the benefits from screening do not seem to outweigh the negative aspects from the screening. This screening does not meet all the requirements for the Wilson and Junger’s criteria which is why I am mainly against the Krabbe screening. One of the criteria is if treatment is available, however the treatment that is available at this time does not guarantee that the newborn will become free of the disease because a lot of complications seem to come from this treatment. Also, it does not seem to be cost-effective because the treatment itself seems as if it is expensive. Yes, the disease is serious but even the early diagnosis can give ambiguous results and that leaves parents anxious and stressed. I can’t imagine being a doctor telling them that I cant tell you when, what its going to look like, if we can prevent it or if we will be able to treat this disease because that is unfair to the family and leaves them in a situation that no one wants to be in.
    At this time I don’t believe that it should be mandatory for all states to screen for Krabbe until there is a treatment that is developed that is 100% effective. If a parent wants to screen for Krabbe then it is their decision but I do not think it is something that needs to be mandated in every state at this time. If a family has a genetic history of having Krabbe then yes it should be screened for that certain family. This is a difficult situation because Krabbe is a serious and fatal disease, however until we have an effective treatment and treatment centers available it should not be mandatory for every state.

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  9. Since newborn screening tests concern a very sensitive subset of the human population—the newest and youngest among us –it is necessary to carefully evaluate the pros and cons of the screen before putting it into widespread or mandatory use. Among the many stakeholders that should be considered when making this decision, the newborn child and his or her family are by far the most important. Since there is a somewhat effective treatment available for Krabbe, many would argue that the only ethical decision is to offer the Krabbe screening to all newborns and try to detect cases of Krabbe as early as possible. However, since the screen is not conclusive and often requires follow up with a genetic counselor who cannot predict when or if the child will ever start showing symptoms of the disease, others argue that it is unethical to force all families to endure the possibility of such a discussion by making the Krabbe screen a mandatory part of all state newborn screens. Another group of stakeholders includes healthcare professionals and medical researchers who are trying to provide the best possible care and service to newborns and their families, without creating unnecessary anxiety due to unclear screening results. Additionally, the research lab that developed the Krabbe screen and any pharmaceutical ties that lab has also has a stake in how often the Krabbe screen is used, since they may get more respect or future research funding depending on how commonly the Krabbe screen is used.
    When deciding whether the screening test should be mandated to all newborns, we must consider how serious Krabbe disease is, whether a treatment is available and effective, how high the incidence rate of the disease is, and whether the screen is cost-effective and accurate enough at evaluating the risk of developing Krabbe in a newborn child at the time that blood is drawn for the standard newborn screen. The article makes it clear that Krabbe is a severe neurological disorder that will result in the eventual early death of an affected child, and the umbilical cord blood transplant procedure in asymptomatic newborns has shown some efficacy. The U.S. National Library of Medicine states that the incidence of Krabbe in the U.S. is about 1 in every 100,000 people, and based on its use in New York state, it appears fairly straightforward to conduct the Krabbe screening test using the standard newborn blood samples taken from Guthrie cards. Since the overall incidence of Krabbe is fairly low compared to other diseases that we commonly conduct newborn screens for, and the umbilical cord blood transplant can result in complications, some people are tempted to reject a national mandate for Krabbe screening in newborns. However, since the Krabbe screen is easy to conduct, early treatment is available, and early treatment has been shown to be more effective at alleviating the expression of the disease, I would agree with the recommendation to nationally mandate Krabbe screening, especially because most doctors do not immediately think to test for Krabbe when an unscreened child starts showing symptoms of Krabbe later on in their childhood. As Christina Levasheff explained in the article, “When you have a child who’s going to face a terminal disease, do you want knowledge and options and choice, or do you want it to just happen to you?” I believe that every parent has the right to “knowledge and options and choice,” so I support national screening for Krabbe, but I also believe that parents should be able to opt out of learning the results of the screen if they are so inclined.

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  10. Whenever something is mandated, the public needs to be convinced that is is absolutely necessary or else they may feel like the state or government is taking away their rights to make a decision for themselves- with no good reason. This remains true when it comes to mandated newborn screening. Newborn screening is a very controversial issue and it is necessary that the pros of screening outweigh the cons in order to make it mandatory.
    In this article different people had varying opinions regarding if newborn screening for Krabbe should be mandatory or not. Some people believed the cons and risks outweighed the pros. When parents get a positive result for Krabbe their baby may be asymptomatic and then they must play a painful and haunting waiting game. When they get the positive result it is unknown when their child will get sick. And the current treatment is not as beneficial as people would hope. When the doctor performed 4 umbilical cord blood transplant 2 out of the four babies died from complications. This doesn't seem worth going through the treatment available. On the other hand, by mandating screening if a child does get a positive result, when children get sick they can be treated with proper drugs to remain comfortable and have a better quality of life, because if they did not have screening a doctor may not know what is wrong with them because Krabbe is such a rare disease.
    From this article, it appears that parents who have a child with Krabbe (or even just get a positive preliminary screening result) would prefer for this screening to be mandated, therefore when a child does become sick determining their illness does not become a guessing game.
    Overall, even though the current treatment available is not ideal, I believe that it is always beneficial to do screening in order to get whatever preventative care is available- even if the child is asymptomatic at the time of screening. Like care for any illness, technology is always evolving, even if it is not ideal currently it will hopefully continue to advance.

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  11. This article poses just one of many medical ethics issues that face us today. In this day and age, there is so much medical technology available to us, and new methodologies are being discovered all the time. This article, however, brings up the issue of whether of not screening for Krabbe. To me, this is a very difficult issue to form an opinion on, and I can definitely see positives and negatives with either side of the arguments. If I were forced to choose, however, I would decide that screening for Krabbe should not be mandated. Obviously, there are a few stakeholders involved in this issue. You have parents, who will obviously be devastated and mostly helpless if their child is diagnosed with Krabbe. You have the child themselves, whose quality of life will deteriorate suddenly and quickly. And then you have the doctors who are searching for a way of preventing the onset of this disease. However, my opinion stems from the fact that screening for Krabbe and catching it before symptoms onset is not even close to a guarantee that the child will have a better outcome or even survive. The article discusses that the current treatment is risky, and in a group of 4 children, 2 died and 1 was left with severe neurological damage. I think that in this case, the treatment available is not a viable option just yet, or even a very good one. While the children would obviously die without the treatment, the benefits of early screening and diagnosis are still do not offer that much more of a chance. It is a slim margin that the treatment will be effective. Furthermore, screening does not guarantee a definitive answer one way or another. For those parents whose children are screened and whose results cannot be explained, they live a nightmare watching their kids every day in fear of them suddenly growing very ill.
    Overall, my opinion is that the screening should not be mandated for the reasons I discussed. I do, however, think there should still be the option. Parents should be presented with an unbiased account of what Krabbe is, what screening may or may not be able to tell them, and then the treatment and its risks. With the full informed consent of both parents, I believe they have the right to seek screening and treatment for their child. With the situation of Krabbe, where so much is uncertain, a parent should not be forced one way or another to have screening done when it may not end up helping. However, this is still an incredibly complicated issue. I could not imagine having to make this decision if I was faced with making about my own child in the future.

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  12. I do not think it Krabbe screening should be made mandatory when there is so little known about the disease. The neurologist in the article admitted that while screening can help early detection of the disease, it impossible to tell when the symptoms will begin, how the disease will manifest itself, and whether or not the treatment will be effective. Although early detection often increases the chances of successful treatment, the treatment itself is tedious and unpleasant. Of the 4 babies who underwent treatment, 3 either died or were left severely impaired. At this point the pros of early detection are not worth the distress that this disease causes families. It is not fair to mandate Krabbe screening when there are many parents who would rather not know and fully enjoy their time with their child. Having to live day to day in fear of a nearly inevitable future would be heartbreaking. Ultimately I believe the choice should be up to the families. If there are parents who want their child screened to insure immediate treatment then that is their choice. It is clear there is a lot more to be learned about Krabbe disease, and the money potentially spent on screening for all newborns would be better spent on researching the nature of the disease and more viable treatment options.

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  13. Krabbe disease is a debilitating neurological disease that occurs in 1 of 100,00 births. The consequences of this disease can result in loss of motor functioning, inability to speak or eat, deafness, blindness, and most often, death. The warning signs of this disease: little to none. The disease is asymptomatic and can occur anywhere in lifetime from infancy, childhood, and adulthood. The treatment for Krabbe also presents little to no hope at all; currently doctors have been using umbilical cord blood transplantation in affected newborn infants who have exhibited early symptoms. However, even with such a risky treatment, there’s a small possibility the child will even improve or let alone survive. New York is the first state to initiate newborn screening for Krabbe and there’s both a will to continue the expansion of this screening across the country as well a will to stop this expansion with knowing that the disease can’t be controlled for and will either complicate or end a baby’s life.
    Both the medical profession community and families with Krabbe disease face conflicting interests in whether or not to screen newborns for this problematic disease. I believe looking through the perspective of parents with children affected by Krabbe is easier than the perspective of the doctor. No parent wants to see their own child suffer. When their child becomes screened and the results come back positive, many parents become fearful, haunted by the fact that their child will slowly and painfully develop and eventually die. Parents who receive false positive results are put under this unnecessary state of worry and panic. Specifically in the case of Vera Wojtesta’s parents, they were “self-diagnosing” Vera by using the Internet to scroll through information of Krabbe and how this disease will impact their daughter. Even though the parents’ intentions of seeking information was probably to prepare themselves and to know what to expect, I think this did them more harm than good as they resulted in such state of worry and panic, which I believe happens to most people who try to self diagnose themselves or others. I also believe that there are other parents who want to do their best in providing for their child whether the child is suffering or not. Several parents want to expand newborn screening for Krabbe in hope that it will help to detect symptoms earlier and possibly lead to new and improved treatments. In the parent point of view, it’s primarily an emotional issue in doing what’s best for their newborn but I believe it’s a more complicated problem for doctors treating those newborns.
    Medical professionals are put under an overwhelming situation where the interests of the patient, the patient’s family and the professional himself are all in conflict when determining to screen for Krabbe. I think one of the major issues with deciding to screen for Krabbe is that there practically is no treatment for the disease. There is the option for blood transplant but it is not optimal, let alone beneficial for the infant as the chances for survival are miniscule. Therefore, even with treatment available, what would be the point to screen for such a fatalistic disease? If there’s nothing the doctor can do to improve or benefit the Krabbe patient, then should we really invest in the costs for treatment, or especially, the proposed wide spread screening? The ethical issue with these questions is whether or not stopping or not deciding to treat a baby with Krabbe is considered killing or letting it die. If parents refuse to screen their baby for Krabbe or decides not to treat their baby knowing that the baby will eventually die, many could consider this an act of killing with refusal to intervene of death. However, many parents are relying doctor’s on their baby’s life in the doctor’s hands, leading to doctors to consider the emotions, anxiety and stress of the parents. Overall, I believe that Krabbe disease must be researched in treatment, pros and cons, in order for it to implement screening across the rest of the country.

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  14. I believe that from the perspective of both the research community and a newborns family, that this test should be administered in every state in the U.S. I believe that the stakeholders in administering this exam can extend all the way out even into the general public- I believe that any person in the community, even a celebrity, who is having a baby is at stake of being affected by this disease and therefore should be aware of the screening for it. I think that above all, parents of newborns should be the most concerned with this disease because it is affecting their offspring and will influence the entire family at large. I also think that researchers and other people working in the healthcare field should be more aware of Krabbe disease and it’s implications and risk factors. Since there are so many diseases out there, it is important to make specific screenings present to sort of “get the word out.” I think that the ethical implications that are present with this disease come with the fact that many aspects of the disease are unknown and it is difficult for parents to come to terms with the disease itself. One ethical implication may be that the symptoms of the disease may not be present until later in childhood or even adulthood, so the fact that someone has the disease but they may not be aware of it until later is a problem. Another issue arises with the fact that when such a disease like this isn’t caught at the right time, treatment for the disease may not be available and it may be too late. Lastly, I think it is hard to tell parents that their child may or may not have the disease, like in the situation presented in this article, because the parents end up freaking out and worrying, sometimes for no reason at all. Making the public and the parents aware of the disease increases their stress and anxiety, which in some cases is not fair to the parents.
    I think it is important to take into account the treatment options associated with the disease- that is, if the treatment is only available and works when the disease is caught early. In the case of Krabbe disease, when a newborn is not screened when they are born, the treatment may not be effective later on. For this reason, the screen should be mandated. Also, we should take into account that the symptoms of disease are not always apparent right away; therefore the newborn should be screened so that the parent doesn’t suddenly become shocked later in life when their baby or child starts showing symptoms. When deciding whether or not newborns should be screened, we should also take into account the treatment options that are available for that disease. As stated in the article, there are some complications and side effects associated with the treatment of Krabbe disease, including death.
    After reading this article, I am in support of Krabbe screening because I believe that the pros of the screening outweigh the cons. I think that if we are aware of a genetic disease that may affect some of our population that we should screen for it as a measure of prevention. In the screening process, we are not harming the newborn, but rather we are trying to help the newborn and the families. I believe that the fearful limbo is, in a way, worth it- if it means that a debilitating disease could be detected, and treated, early in the process, thereby saving the child’s life.

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  15. I will always support newborn screening for any kind of disease. It is better to be safe than sorry. I would rather anxiously wait for test results for a week than be blind sighted by a rare condition in a previously healthy child. The emotional turmoil of waiting for results or receiving a false positive are worth the pay off. However, I acknowledge that not all parents may share this sentiment. Therefore, newborn screenings for such rare diseases should be recommended but not mandatory. Doctors should provide parents with all the information of the positives and negatives of opting for Krabbe disease screening and allow parents to made this choice. Personally, I support newborn screening for all diseases.

    By the time a doctor diagnosed Jaylah with Krabbe disease, it was too late for any treatment. If she had been tested, her quality of life could have been better and her life prolonged. It is better to know and have choices rather than finding out after it is too late. Treatments are most effective while the child is asymptomatic.

    Of the four babies who underwent the surgery of using umbilical cord blood transplants to treat newborns with Krabbe, two of them died of complications, one child is severely neurologically impaired, and one child has had problems but has been able to start kindergarten. Babies who survived this risky treatment did much better than babies who got no treatment. But the transplant had to be done before symptoms appeared. These odds, although not very positive, are better than the alternative of no treatment. One child was even able to start kindergarten! A child without treatment can not dream of such an accomplishment.

    Without screening, families become desperate as they struggle to figure out what's wrong. Since Krabbe disease is rare, some doctors may not even be able to identify it. It is painful for a parent to see their child suffering and not knowing what to do about it. I am sure this takes a greater toll on a parent than receiving a false positive. Knowing that your child has Krabbe disease and you could have identified it with a simple screening must be horrible.

    Like Levasheff states, "When you have a child that's going to face a terminal disease, do you want knowledge and options and choice, or do you want it to just happen to you?" Personally, I prefer knowledge and options and choices, but I respect that others may not feel the same. Newborn screening for Krabbes disease should be recommended, but not mandatory.

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    1. Initially, my stance on this issue was that screening should not be mandated, but rather, more efforts should be focused on research. I can see how my perspective is a bit contradictory – how can researchers conduct more studies and provide more evidence without more screening and testing? Therefore, I think that Filiz makes a very good point, saying that newborn screening for Krabbe disease should be recommended, but not mandatory. I’m not sure I agree with the recommendation, but I definitely think that if parents are at least informed, aware, and provided with information regarding the disease, including the risks and benefits, I think that this could be more reasonable for the time being until we know more.

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  16. Genetic testing will always be a controversial topic. There are some that will say that parents have the right to know what will befall their child in life, while others say that if there is no treatment and no way to stop the disease from occurring then it should not be tested for. I am also of a split mind on this, especially when it comes to testing for diseases such as Krabbes. If there was a definitive test for all levels of the disease, as well as ways to treat and/or manage the disease at multiple levels and not just in newborns, then I would be for the mandatory screening of infants because if parents get the horrible news then they have ways of managing the disease. On the other hand, if parents get an imprecise or ambiguous results from these screens and are saddled with years and years of waiting to see if the child develops the disease, always worried that the slightest thing could indicate the onset of the disease, it cultivates a fear in the parents that destroys the time they have with their children while they are not exhibiting symptoms. For this reason, I believe that any disease that does not have a known treatment and known benefits of treating a child as early in life as possible should not be mandatory, but rather optional. Some parents may want to know exactly what will befall their children, whereas some parents may want to live in ignorance if there is nothing that they can do about the eventual disease that may befall their child. This is a personal choice that the parents should discuss among themselves and their doctors shortly after childbirth, and should not be mandated by the state.

    As a public health professional newborn screening for as many diseases as possible is very important because it can save many lives, and can reduce costly treatments down the line f the condition is known and treated right away. I agree with the general premise of newborn screening and know the benefits of such a mandatory program. I am not arguing that we should get rid of all newborn screening, but I think that it is important to think about the implications of such screening for diseases such as Krabbe Disease. I think in diseases such as that it should be the parent’s decision. Because the results can be ambiguous, and it could leave the parents with a lifetime of worrying about their children, parents should be able to choose whether they want to know this information. This is only the case when the results are ambiguous and there is no set treatment plan, such is the case with Krabbe’s Disease.

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  17. When dealing with children versus adults, the ethics of medicine seem to shift. Most people would do absolutely anything to save the life of a child and to make their life more happy, comfortable, and happy. This is the ultimate goal of newborn screening; diseases that can be caught early and subsequently treated. However, with conditions such as Krabbe’s disease, this isn’t often the outcome. The screening test for Krabbe’s does not give a definitive prognosis, and neither does the diagnostic test. Because of this uncertainty, families whose babies are screened positive are often left completely in the dark as to the fate of their child. Though early treatment has been shown to be effective, in many of the cases the child still ended up dying.

    Though researchers may want mandatory screening in order to learn more information about this low-incidence disease. Families, on the other hand, should be involved in this process. Parents of newborns should be given information as to the nature of the disease and screening test and then allowed to choose whether or not they want their child screened for Krabbe’s disease.

    In order for a screening test to be implemented, the disease should be serious enough to warrant testing but also have an effective treatment. The screening test should also be reliable and be able to accurately predict prognosis. In the case of Krabbe’s disease, because the disease course is so unpredictable, ignorance truly is bliss.

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  18. After reading this article I considered the research perspective of Krabbe disease. There is a possibility the child will eventually have this disease, but no one will ever know when the time will come. Why should parents wait for something negative to happen to their child? But then I thought that screening for Krabbe disease can save a child or hundreds of children. Although this disease is very rare and the onset is unexpected, I think there should be newborn screening in all states for this disease.

    The article comments on the distress and fear of parents by stating, “But then everything starts to change – and without screening, families become desperate as they struggle to figure out what’s wrong.” Some parents have already experienced this distress of not knowing what is happening with their child. Since this disease is so rare, I don’t think many parents are aware of the cause and symptoms of Krabbe disease. It is difficult to catch. Although there is not a perfect cure for this enzyme deficiency, it should be mandatory of all states to perform the newborn screening. Parents who find out that their child is diagnosed with Krabbe disease can physically and emotionally prepare to enjoy every day with their child. Since parents and physicians don’t exactly know when the child will begin to show symptoms of the disease, it is important to both enjoy their child’s life as well as prepare to modify life to the needs of their child. I would argue against neurologist Kwon’s claim that “no one should be screening for disorders that are this difficult.” Families should be able to access medical information and testing to anything that can be problematic to their child’s life. It is better to know and hope that treatment of symptoms increases quality of life for the child than to regret not testing a child early on.

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  19. With the onset of the genetic revolution, new technologies and methods foster newborn screening for even the rarest of diseases. However, as screening techniques develop, the technology to effectively treat rare diseases still lacks in scope. Thus, the ultimate questions remains, should newborn screening for untreatable disease persist? The answer relies on several concepts aimed at those that are most immediately affected by the course of action (to screen or not to screen), the families of the newborns. However, the debate on screening has caused a rift between supporters and those that oppose the program. Though the government of cities, such as New York mentioned in the article, firmly believe that screening for rare disease, such as Krabbe should occur to eliminate future anxiety for parents. However, I believe screening for such diseases actually creates more fear because of the lack of knowledge and possible treatment options available to affected newborns and families. Also screening for rare diseases that do not have effective treatment is a waste of resources. The amount of money and effort used to diagnose and screen for these can be spent developing more effective screening methods and treatment options. Before attempting to screen a newborn for diseases, the benefits and risks should be considered and evaluated on some form of criteria. In my opinion, a newborn screening test should only be considered for diseases that treatment options are available for. For example, though it can be screened for, Krabbe cannot be treated effectively and screening negative for one single mutation still does not mean you don’t have the disease. Thus, parents are then living in a shroud of confusing and anxiety, always worrying if their child may develop symptoms attributed to the disease later on. Also for screening tests to be developed and implemented, the disease must be a primary concern of public health. Though Krabbe is a deadly disease, it only affects a small amount of the population. Thus, efforts to screen for it and diagnose the disease should be instead focused on other diseases that are more prevalent in the population. Though early screening for Krabbe has shown to alleviate symptoms and save the lives of children, it does not mean the treatment is as effective as it could be. For example, the article cites 5 children that were diagnosed, of which one family refused, two died, one had neurological impairments, and one still had complications but was able to start kindergarten. As a result, it is evident that screening methods do not translate into effective treatment. Overall, I do not support Krabbe screening, primarily because it does more harm than good. Even after diagnoses, a lot still remains a mystery surrounding the symptomology. However, some parents may desire to have knowledge of their newborns condition, so that they may prepare for the future. Though I am aware of this argument, it is a worse feeling to know of a condition and feel helpless because not much good can come from it. In other words, knowing the truth will not help avoid the end result. Thus, I believe it is better to be in the unknown and when symptoms arise, begin care then.

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  20. Screening tests, such as in this example of the newborn screening test for Krabbe's disease may be considered ethical or unethical depending on one's professional training, religious views or personal opinion. For healthcare professionals, it is viewed through a strictly scientific lens as a primary prevention tool to catch disease early and therefore prevent its development. By doing so, health professionals are successfully (and ethically) fulfilling their roles as soldiers in the eternal war against "disease," an unnatural and uncommon condition or observed phenomenon. Newborn screening is a tool in their arsenal to fight the battle. But who decides what is unnatural or natural, and therefore gets the "disease" label? Physicians who treat patients for medicalized diseases. New parents may consider newborn screenings tests as ethical or not, but will likely consider it as an undoubtedly useful tool because it gives them options to fight an infant disease, such as Krabb’s disease, as they define it. Parents may not want to accept the “diseased” label of their new son or daughter, and choose not to move forward with treatment, or they may choose to go ahead with treatment. Either way, it is better to look at treatment as an option determined from widespread newborn screenings based on the decision of the infant’s family.

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  21. Screen, baby, screen. I think that the benefits of screening definitely out way the risks of screening as long as screening test passes the Wilson and Junger Criteria. Information is power and with that information people can make choices that are best suited to respond to dealing with a difficult life decision. It might be in the interest of the child involved to pursue a different life course or alter their behavior to minimize the risk of getting the disease if it is possible. There may always be questioning in the parents minds if their child did later develop that disease about what they could have done differently if they had known about the disease. There is a lot of stress that would be placed on parents at that point that might be similar or likely even greater than the stress of having a false positive or knowing that their child could always possibly develop that disease. Also, even if the parents and child do have a hard time coping with the thought of possibly having to treat a disease later on, there are a variety of counseling options and other outlets that the person can pursue that are helpful to them. I think that the benefits of screening far outweigh the costs if the Junger Wilson requirements are met.

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  22. I think this is a hard dilemma that will never result in an easy answer. On one hand, there are the few families who experience the preventable tragic death of their newborn due to this rare disease that lobby for screening and awareness. On the other hand, as a result of increased screening, are more families who undergo significant stress and uncertainty for arguably no reason at all. This was the case with the Wojtesta family and will be for many others.

    Since the families of the affected newborns are so traumatized by their children’s early deaths, they are adding a disproportionate (though understandable) amount of activism to this conversation. In other words, Krabbe screening is not really making a significant difference, but it’s hard to tell that to a group of grieving parents who want to spare others from the same plight. The fundamental problem here is that the grieving parents are either misinformed, or blinded by trauma to the fact that screening would not necessarily have helped their child live, nor will it definitely help others survive.

    When considering the implementation of a mandatory screening test, it is first necessary to establish that the screened disease has a considerable prevalence and designated treatment available. The screening for Krabbe does not meet either of those criteria. In addition, it places significant stress on parents of newborns who screen positively, whether or not they actually become diagnosed. As hard as it is to remove emotion from this debate, I think it’s necessary in order to make a logical decision. While parents of affected newborns definitely deserve our sympathy and support, their reasoning is not sound when it comes to the cost-benefit analysis of this screening test. There is too large a gap in knowledge and treatment for this screening test to be worthwhile. For these reasons, I do not support Krabbe screening for newborns.

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  23. Screen for sure! Although screening for Krabbe may have a powerful emotional impact on the parents of the child as they anticipate for the symptom onset, I still feel that any possible prevention measure taken is better than none.

    Why compromise unexpectedly losing their child at any given moment when they have the opportunity to find out now -- when they can assess the situation, plan and provide the support the child needs instead of playing the guessing game of what disease they have in the future? People would be opposed to mandated screening since they don't want to suffer thinking about their sick child. They have a right to delay the emotional trauma and stress they will encounter if they discover their child has the disease. The ethical implication also involves refusing people the choice of partaking in the screening process due to religion, misinformation on the internet and disinterest in having to anticipate the suffering of their child. As emotional and traumatic this may be, I think a parent who knows their child has Krabbe disease would be more likely to savor and appreciate every moment they have with their child instead of worrying about the suffering associated.

    Logically, it makes sense to screen the child in terms of resources. The amount of money it takes to provide medical care at the beginning stages will be much lower. Also, as with any disease caught early, the baby would have a higher chance of surviving and finding medication that can alleviate symptoms. Right now, there isn't a treatment with a 100% success rate and not much is really known about the disease. However, screening will give doctors and researchers the ability to study the effects of the disease and find a cure for it. There are plenty of resources out there that can help support the families of these babies. As a (hopefully) future clinician, I would definitely implement mandatory screening, no matter what. It's a primary prevention method, and I believe it's the best way to address this situation.

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  24. It seems to me like that most of those against newborn screening for Krabbe disease argue that the risks outweigh the benefits and that the treatment is dangerous and not effective enough. Some parents, like Brianne Wojtesta, might say that even the emotional trauma of a false positive is something they will never forget and that the fear will never disappear. However, although parents may be traumatized emotionally, if screening is not mandated, newborns with Krabbe disease could go undiagnosed and they will be the ones who will be traumatized physically. Not only is Krabbe disease asymptomatic, but it is also rare.

    In my own personal opinion, this disease is so rare and fatal, that I think the false positives are the better of worse options. It is better to get a couple of false positives and run additional tests to be sure than to get false negatives and newborns go undiagnosed. I understand why many would argue that screening creates more harm than good, but I still believe that if there is something to worry about, parents should know about it and be able to make a choice, no matter how difficult. I still think that ultimately if there is a chance of early detection of a disease, even if treatment is risky and has a low chance of success, it’s still a treatment, and parents should be able to know about it and know that whatever choice they make, they made it only after weighing every possible option.

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  25. Personally I am in full support of screening for any and all diseases, even ones like Krebbe. I understand that when a disease is vague and generally untreatable, like Krebbe that it’s just better not to know if the possibility is there. I can’t imagine how unbelievably hard it must be for a parent to watch their kid grow up and always be wondering if their child is going to suddenly develop symptoms of a deadly neurological disease. But for me, the alternative is worse. The alternative would be to have my child suddenly start acting differently and then not know what was going on for several months, only to find out that it is too late to treat them, that if I had known about it earlier I could have done something to save my child.
    The issue with the whole debate is that despite how I may feel, there are many parents who do not want to know the results. If a newborn screening for Krebbe were implemented, then the state would essentially be forcing parents into listening to something that they have every right to choose not to hear. At the same time, if screening is not enforced by the state, then the parents who do want to have their child screened will either not get the information they want or will have to pay a great cost out of their pocket. This puts the state between a rock and a hard place. Again, my personal opinion would be to go ahead and screen for the disease but give parents the option of knowing the results or not. This way everyone retains their autonomy and in case a family did want to hear the results and the child does develop a disease like Krebbe, the doctors can use the result from that screening to diagnose the patient earlier and give more of a chance of treating them.

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  26. I think I tend to lean toward the general opinion of the medical community that screening is an important step towards a healthier general population and a greater body of knowledge. Even though some may argue that it is wasteful or useless to screen for such a rare disease with such risky and controversial treatments, all knowledge is useful and leads to better treatment in the future. Screening allows scientists and doctors to monitor incidence and prevalence rates more accurately, to follow the course of the disease, and to gain more information on effective management and treatment of the disease. Even though some parents may argue that they would rather not know or that the pain of knowledge limbo is unbearable, I think it is important to think of the pain of the regret one would feel if they hadn't pursued a treatment that would lead to a better health outcome for his/her child. It is absurd to think that someone would rather watch their baby suffer out of ignorance than be able to make informed decisions about the welfare of an infant. Even if the only treatment is pain management, that is still better than nothing and I'm sure many families would find solace in knowing they did everything they could for their child even if the outcome is not a successful one. I think cost effectiveness is the most valid argument against newborn screening for diseases like Krabbe, but I think the knowledge gained and the suffering prevented on the part of the child far outweigh the monetary or emotional costs to the family.

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  27. I am personally in favor of Krabbe screening because I am the type of person who does not like unpleasant surprises and would rather know my child has the disorder and anticipate it rather than unexpectedly get hit with the symptoms and slowly watch my child deteriorate. By knowing sooner I would be able to get early treatment to help diminish the symptoms and/or slow the onset of the disease. Furthermore, even though there is little we can currently do for children with the disease, I believe it should be mandatory to screen newborns so that more research can be done to better understand the disease so that treatment or a cure can be developed for the future. While I understand that many families may be distraught with the bad news and that it is something that can haunt them for a long time before the symptoms develop, I think it is a bit selfish to forego screening to remain ignorant, as this screening can help future generations so that other families may not have to go through the same thing.

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  28. After reading this article, I feel that it would not be fair to worry parents about a disease that is so rare in the population, especially when currently there is no completely effective treatment intervention available. If this screening test was mandated for all newborns, imagine the fear and anguish parents could potentially feel at the prospect of there small child having to face such a rare and unknown disease. And imagine their frustration when they are told that there is nothing that can be done besides to wait and see what happens. Doctors cannot provide comprehensive answers about the presentation of the disease, and often times they cannot assure parents that the child will even develop the disease.

    From the perspective of the research community, it is clear that much progress has been made when testing for Krabbe disease. Doctors are able to determine whether a child will have this disease through genetic screening tests, and are able to offer some form of intervention that could possibly alleviate symptoms for some period of time. What concerns me is that the interventions currently available to those who are diagnosed early may or may not be effective for every early diagnosed patient. According to the NPR podcast, in New York City it was quite clear that infants who were found to carry the gene for Krabbe disease and opted to have the cord blood transfusion presented with serious and life-threatening complications. It seems as though the intervention that is supposed to help alleviate their symptoms once the disease presents itself, actually has the opposite effect because it caused them severe harm. I do not think that researchers have made enough progress in determining an effective treatment intervention, and therefore all newborns should not be screened for Krabbe disease.

    It is clear that many factors need to be considered when weighing the possibility of testing all newborns for Krabbe disease. Professionals need to think about the ethical and medical implications that will present themselves. Krabbe disease has a significantly low incidence rate, there is no effective treatment intervention for it even though there is a current intervention. In addition, screening for this disease may result in many false positives, which is another source of fear, stress, and anguish for families. It simply seems that the risks outweigh the benefits for detecting this screening test. As for mandating newborn screening for Krabbe disease, I do not think that it should be required for all newborns, but I do think that it should be screened for in those who have a higher risk for developing the disease. That is an aspect that researchers may need to investigate further, but I think that it is the most appropriate way to utilize this screening test.

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  29. I feel like requiring screening for Krabbe disease is an important thing because if something can be done to prevent or alleviate the symptoms of a deadly disease, then it should be done as soon as possible. Even rare diseases need to be screened because a child that doesn't get a diagnoses could be in unimaginable pain if they have the disease. False positives happen with many other diseases as well. Human error is a part of life and doctors make mistakes because they are people like the average person. Even though families may have to worry about whether or not their child has Krabbe disease for a long time, they are better off worrying and then the diagnosis is a good result for the family rather than not bothering to test at all and then possibly having a child with the disease, regardless of the rarity of the illness.

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  30. Medical innovations and technology seem to advance every day, potentially providing hope for suffering people. However, it is important to keep in mind that this is not necessarily always the case. The NPR article reflects how newborn testing for Krabbe disease can create fear, anxiety, and distress for babies and their families. Unfortunately, these negative effects don’t only come with the diagnosis of the disease, but actually with just the mere idea of testing for its presence. The decision to test is clouded with uncertainty – there is simply not enough research and information on this condition, and the most frustrating part for physicians and parents is that the outcomes are out of their control. All they want is answers to their questions.
    The stakeholders are obviously the baby, whose life would be primarily affected. If they test positive, then they would either be fortunate enough to receive early intervention to prevent the negative impact of the disease, or they would suffer from treatment, as noted in the article. The baby’s parents also play a crucial role, as they are the ones deciding on their child’s quality of life. Physicians are also important stakeholders, as they usually the voice of reason who parents turn to for guidance on such difficult decisions. However, they themselves could also be just as conflicted, due to the lack of sufficient information regarding Krabbe disease. I think the most crucial stakeholders are researchers – we are depending on them to investigate and provide more evidence. This torch would then be passed on to policymakers, who can decide whether the screening should be mandated or not.
    The ethical implications mainly involve the patient, the baby. How can their parents decide on the fate of their child? Knowledge is power, but do parents really want to know everything, including potential harm? Would this cause unnecessary stress and worrying? Do they just let life take its course and wait for fate to decide? If their child tests positive for Krabbe disease, do they pursue treatment to potentially prevent negative effects – despite that this might even cause more harm or even kill their child? Or do they forgo treatment? Do they let their child suffer so they can be with them while they live? Evidently, there are so many ethical questions and so many risks surrounding this issue. More ethical implications arise regarding the lack of research – do states need to mandate testing in order to provide studies with more information? Is this fair to society since it would be morally right and justified to provide for the greater good and future generations?
    When deciding if there should be a screening test mandated for all newborns, it is important to take into account the disease prevalence, if the disease is common, and if it is contagious. It is also important to consider the treatment for the disease – is it effective? The NPR article states, “Five infants in New York have been candidates for cord blood transplants. One family refused. Four babies got treatment. Two of them died of complications. One child is severely neurologically impaired. And one child has had problems but has been able to start kindergarten.” I think that parents are more likely to pursue treatment, regardless of its potential effects. Personally, I think that they would rather do this then having the end of their child’s life in their hands. Clearly, a decision like this is an extremely difficult one that takes a great toll on physical and emotional health of the baby and their family. After reading the article, I am not in support of Krabbe screening due to the lack of research and information on the disease. I think that more statistics are needed – decisions like these must be made with more of a sense of assurance rather than uncertainty. The fact that New York has been the only state to screen for Krabbe disease reflects how the disease is not very common – as we do not hear about many babies from most states that do not screen for the disease being affected by it.

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  31. I believe that the Krabbe screening is a good idea in theory, but the application is not yet perfected. While it is important to screen and catch this uncommon, life-threatening disease, there isn’t enough information on the disease and the treatment options are lacking. Based on the Wilson and Jungner criteria, I do not think that it meets the proper criteria. Yes, Krabbe is asymptomatic, and it is serious disease. On the other hand, I don’t think that the proper and effective treatment is available, and diagnosing the disease is not anywhere near perfect, and is actually not very accurate. I believe that the screening process puts an unfair burden of parents. There are far too many false positives, and this disease is very serious, so parents ho get a positive screening result are put through the ringer. Furthermore, even if the follow up comes back positive, the treatment is still experimental and the results are not necessarily better. From what I read in the article, there are a great deal of complications, and many of the children that undergo the transfusion die, or still have complications following the treatment.
    Overall, I think that the screening is a good idea, but I don’t support the mandatory screening because the benefits do not outweigh the negative repercussions. I agree with Ross in that it is basically an experiment, and consent should be given before screened. There are simply too many unknowns, and not enough benefits. Even coming from a parental point of view I don’t think that my view woud change.

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    1. II agree with Ramsey. In bringing up the Wilson and Jungner Criteria, she gives hard evidence as to why this screening is not quite ready to be use in practice. The only instance I can imagine in which it would be beneficial to screen for Krabbe disease is if there is a known or suspected family history of the disease. Therefore, even though there is still a risk that the screening and examination of DNA would lead to uncertain results, the parents are aware of possible treatment plans. Even if this devastating disease is present, the family can at least keep the child comfortable with proper pain medication as soon as possible if they are aware of the disease. I feel that genetic screening for the entire population would be too risky though, both in terms of ambiguous test results as well as poor and dangerous treatment options.

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  32. I can’t imagine how unbelievably hard it must be for a parent to watch their kid grow up and always be wondering if their child is going to suddenly develop symptoms of a deadly neurological disease. I also cannot imagine the alternative. The alternative would be to have my child suddenly start loosing behaviors, stop developing typically, and then not know what was going on for several months. The desperation would be unbearable, especially with Krabbe disease where after the child develops neurological symptoms it is too late to treat them. To live knowing that I could have done something to prevent this from happening to my child would be devastating.

    The major dilemma with Krabbe is that the early treatment is the only treatment but is potentially dangerous and the diagnosis based on screening results is not clear. Doctors making the diagnosis may be unsure what to do with the information of high risk or low risk when faced with the responsibility of suggesting treatment if that treatment may lead to death or further injury as it has in New York. Undoubtedly, there will be parents not want to know the results and those that do, even if the extreme consequence of that decision is hard to comprehend.

    If a newborn screening for Krebbe were implemented, then the state would essentially be forcing parents into listening to something that they may not want to hear. The question in this situation is whether the parent has the right to choose not to test. This may result in many undiagnosed cases where the disease could have been prevented. Is it the parents’ decision to test or is the state obligated to test all children?

    Most of those in opposition to newborn screening for Krabbe disease argue that the risks outweigh the benefits and that the treatment is dangerous and not effective enough. Some parents, like Brianne Wojtesta, might say that even the emotional trauma of a false positive is something they will never forget and that the fear will never disappear. However, although parents may be traumatized emotionally, if screening is not mandated, newborns with Krabbe disease could go undiagnosed and they will be the ones who will be traumatized physically. Not only is Krabbe disease asymptomatic, but also it is also rare.

    I think that ultimately if there is a chance of early detection of a disease, even if treatment is risky and has a low chance of success, it is still a treatment, and parents should be educated about it and know that whatever choice they make, they made it only after weighing every possible option.

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  33. After listening to this report, it’s difficult to determine whether Krabbe screening should be administered to all children. I personally would be in favor of Krabbe screening be given to newborns. I believe that is important for parents to know what type of disease their child is at risk of developing. This information could help parents prepare emotionally, financially, and otherwise. For example, they could educate themselves about treatment options. I understand there is a stress factor that goes along with knowing information like this, but it’s important to understand that until the child develops the disease fully, it would be no different than having a healthy kid. If anything it should bring families closer together. Parents and children would be the ones who are going to be the most burdened by the information Krabbe screening could reveal. But I think it’s important to know because perhaps the child/adult knows they’re a carrier and this might affect how they decide to have children of their own. I think parents should know if their child is at risk of developing Krabbe because to be suddenly struck by the symptoms of Krabbe disease would be terrorizing to see your child go through. And if there is anything you could do to help it or treat it early it’s important they understand the signs and symptoms of the disease. (especially of there is proof of being able to cure it entirely.) It’s important to understand the number of people who are screened versus the number of people that have the disease and can be helped. There is no point screening for a disease that there is not cure to. Nonetheless, there is a very extensive and invasive treatment that can be done I still think that it’s worth the screenings. I think the emotional agony a family would go through treating their kid would be better overall then seeing their kid suffer through paralysis, loss of emotion, blindness, deafness, and eventually death. Because even though this might sound heartless, even in the worse cases death would be inevitable. If a family can prepare themselves for the worse they might be better off. It was also said that if the child is tested early enough it may even alleviate symptoms and save the child’s life. I think saving a child from suffering through Krabbe is much more important and more ethical than any other alternative.

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  34. Newborn screening has and always will be a controversial topic; there is no "correct" answer. In my opinion, education is the first step to everything, so I think that all parents should at least be aware of these diseases and have the option to screen or not to screen. This means that the state should be obligated to inform parents of Krabbe disease, but not mandated to screen. I think after parents know what Krabbe disease is and how serious it can be, the decision to screen is theirs. Since early treatment is the best option for Krabbe disease, I, personally, would want my child to be screened so that I could take all necessary steps to slow down the disease and lessen the physical and emotional suffering of both the newborn and family members. It would be worse to find out later that my child has been living with a disease and feel as if I did not do everything I could have done to prevent it. I am in favor of educating the general public about Krabbe disease and giving parents the option to screen and hear test results.

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  35. The stakeholders are the families primarily. They risk the lives of the newborn. They also may have to deal with a lot of stress and trauma that may even be psychological. Also, they will probably have to pay a large sum of money in terms of insurance and treatment if necessary. The medical centers are also stakeholders. They finance the screening and treatment. If screening is done but not many true positives are there then they stand to lose money and credibility. Also, if anything goes wrong they are the first to get the blame from the families.

    There are a few ethical implications. First, the probable chance that not many infants will have Krabbe disease but putting a family through all the stress and trauma that comes with it. However there is the other side that if there is a screening and even diagnosis available, then to those newborns who may have Krabbe disease but will receive a later diagnosis that could be too late, is it fair to them to not implement early screening? Finally there is the financial ethical implication as you must see if the money that is put into screening and diagnosis is truly worth it.

    One important thing to consider is the stress dealt to families. Every family has to deal with stress. There are those that have a positive screening but a negative diagnosis such as the Wojtestas. They went through a lot of stress and are still traumatized. They even remarked that the experience will always impact their relationship with their daughter Vera. It also must be considered the families who the screening could benefit. Jaylah, Hunter and others all have had to deal with a late diagnosis of Krabbe, to late to really treat. The infants certainly had a lot of pain, and the stress inflicted on these parents is brutal. It must be considered the number of false positives. There are many who are screened positive but diagnosed negative with Krabbe. False positives show that there can be unnecessary stress as well as a lot of money spent unnecessarily. It should be considered how prevalent Krabbe is in the population as this is a screening criteria. Finally, it should be considered if early screening and treatment can be beneficial. The article remarks for some infants later diagnosis can be too late. Dr. Escobar states with early screening the proper drugs can be implemented to at least ease suffering. However, the article states that the umbilical cord transplant screening isn’t the cure all solution. Of the 5 infants in NY who were candidates, one didn’t even have it while 2 infants died of complications.

    Consdiering all these points I support early screening. True, the Wojtesta’s and others had to deal with unnecessary stress and finances. But one must consider the Kelley’s, Custer, Shaffer and Levasheff all of whom regret not getting an early diagnosis for their infant and who have to deal with such suffering. Dr. Escobar also says that early screening can be beneficial and ease suffering. However, if a improved method of screening and treatment can be made, this would be beneficial to deal with unnecessary stress on families and obtaining the best possible result.

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  36. After listening to the story of Matthew and Brianna Wojtesta and their newborn Vera, I strongly support the Krabbe screening. The background information on Jaylah and her slow unfortunate development of symptoms of Krabbe is devastating. Jaylah’s family was so destroyed by not having her screened, that they went to the government to get Pennsylvania to start newborn screening for the disease. This illustrates that the disease should be screened for because there are no consequences to finding out if a child will develop Krabbe. There are various different things to take into account when deciding if Krabbe should be a screening test mandated to all newborns. When scientists find genetic mutations there is not a direct answer if the disease is treatable or if their child will have it. I think that the downside to testing is that parents are haunted by the thought of having such a terrible disease in their child. The treatment is incredibly risky and complicated; therefore, it is very hard to decide if it’s even worth it. The risky treatment destroys bone marrow and there are very risky transfusions. But at the end of the day, even with a period of limbo of parents not knowing exactly if their child has Krabbe or is just a carrier, it is still better to know earlier than when its too late and treatment is not allowed. Some doctors do not think that people should be screened for these diseases. But without screening, babies with Krabbe would suffer more than if they found out early. The screening of Krabbe in New York started because of a famous football player, Jim Kelley’s, son. And his son suffered a lot because he was not screened for it and when it was found out that he had it, it was incurable. Although the Wojtesta family was incredibly stressed and upset about the phone call they received about their daughter Vera possibly having Krabbe, they were still supportive of the screening because if she had it they would want to know. I think its better to know and be prepared for bad news then for it to spring upon someone and then it is too late for treatment.

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  37. I have always been in favor of screening for all diseases possible. This way the parents of the child can address any medical concern immediately. With certain diseases, the disease becomes severely worse and unmanageable if left untreated. In the case of Krabbe disease, I am support the screening for it. In 2005, cord blood transplants proved to benefit children with Krabbe. However, the transplant is only beneficial if the transplant takes place before symptoms occur. Therefore, the only way that this transplant is possible is if the baby is screened for it. At that time, babies were only screened for it if their sibling had signs of Krabbe. If all babies were screened for Krabbe, then these cord blood transplant could help lengthen their life, while lessening the physical symptoms and emotional stress. Dr. Maria Escobar makes a great point by saying, "families develop relationships with their children, and no matter what degree of disability they have, they treasure each day that they are spending with their children."
    With any new, complex disease education is critical. The parents as well as the doctors need to be on the same page in terms of possible symptoms, treatment routes, and life modifications due to the disease. By screening for diseases like Krabbe it forces doctors to educate themselves on the disease. This way they are not caught off guard if one of their patients' infant screens positive for a disease like Krabbe.

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  39. The controversy brought about by genetic testing is a long-standing one, and will always call for debate. However, in this case, I believe that genetic testing should not be mandated to screen for Krabbe disease as it causes more ethical turmoil for the family regardless of whether their child is eventually symptomatic.

    One of the most important points brought up in this article surrounds what constitutes screening as in this case, the symptoms don’t really manifest themselves immediately, so what are you screening for? Typically, screening is used for morbidity and mortality but what if you don’t know what is going to happen or when it is going to happen. What do the parents and families of the child gain besides an additional emotional burden should their child screen positively? If the parents electively choose to go through genetic counseling that’s one thing, but mandating everyone to be screened for this disease and then having them wait is incredibly strenuous.

    In epidemiology, the ethics of sensitivity and specificity and false positives and false negatives are often discussed. In this case, false positives prove to be extremely detrimental. Though false positives can often be overlooked if an abundance of true positive cases are identified, the turmoil and anguish caused to families who have screened positive for Krabbe disease is unparalleled and should not be caused unnecessarily (like in the case of a false positive).

    Further, if exact diagnosis cannot be made, and if the onset of symptoms occurs only after a delay, the families of the children who are potentially afflicted with this condition are playing a waiting game and are at the mercy of the disease. They are unsure of the outcome and would be relieved if their child doesn’t have the disease but distraught if they come to learn that their child is affected by Krabbe disease.

    In an ethical sense, I do not think that families should be subjected to the diagnostic tests to detect Krabbe disease automatically. Until a very permanent cure is found, families only spend a longer amount of time in turmoil. It is true that they might have the ability to mentally prepare beforehand; but, in terms of their reality, they are essentially going to experience the same outcome so why cause them additional misery while they wait for the symptoms to begin?

    Even if these children ARE screened at birth, the chances of them being cured of the disease are slim to none as proven by the success rate of the surgeries done in the state of New York. Therefore, the question becomes a sort of ethical debate: what is more important - the right to know or right to choose to know?

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  40. While I understand there are many negative affects associated with this screening, and that not many effective interventions and treatments are available to those who do test positive for it, I still feel that it would be more beneficial in the long run if all newborns were screened for Krabbe disease. The reason that so few effective treatments are available is because very little is known about the disease. Without screening, no data on prevalence levels or research could be conducted in an effort to improve the current situation. Without collecting this data, we would be effectively turning a blind eye to the disease and settling on its current prognosis. As a more better solution to the poor treatments available and mental difficulty that this could pose to family, my only suggestion would be giving them the option to not know the results of the test. If this were the case, valuable information would still be collected and recorded for public health agencies, and the family’s wishes would still be respected, should they choose not to know. I understand that this is a very difficult decision, but purposeful ignorance will not help to improve the current state that Krabbe disease treatment is in. In the long run, mandatory screening for infants could be very beneficial to the larger population

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  41. After reading the article, I can completely understand the dilemma regarding Krabbe screening. On one hand, testing for this neurological disorder may allow families and doctors to take the necessary steps to alleviate the symptoms of the disease and prevent death. However, the effectiveness of the current treatment for the disease seems to be somewhat questionable. When successful, the treatment can prevent death. Yet, when unsuccessful, the treatment can cause death. This treatment is clearly extremely risky, but if successful, a life is saved. Based just on this information, I believe screening should be mandatory. But unfortunately, there is much more to this dilemma.
    There is a less obvious negative aspect of the screening as well. Although screening can help with early detection and therefore proper treatment, having a newborn screen positive for Krabbe can take a devastating toll on a family. A positive screening informs the family and doctor that the child is at risk for this disorder, but it is impossible to know when the symptoms will begin and to what extent the disorder will affect the child. The disorder could take effect in the newborn, or not for a few years, or even not until adulthood. Knowing that your child may develop this disorder can be traumatic for a family. The constant looming threat of a devastating disease can take its toll. Constant worrying over the possibility of Krabbe is not a way most people would want to spend their time raising their child. For this reason, many people do not want their newborn screened for the disorder.
    It is readily apparent that there is a major dilemma regarding Krabbe screening. The main question is whether the possibility of saving a life is worth the incessant worrying and the possibility that the treatment will be unsuccessful anyway. Ultimately, I believe I would want my child screened for the disorder because any chance at saving my child’s life is a chance I believe is worth taking. To me, saving a life outweighs the worrying. However, I do not believe that Krabbe screening should be mandatory at this point in time. If there are advances in treatment or technology that allow treatment to be more successful and much less of a risk, then I think it would be appropriate to make screening mandatory. But until then, I think the decision should be left to the parents.

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  42. After reading the article about Krabbe screening in infants, it becomes obvious that there is no clear cut answer as to whether this screening should be mandatory of not. Although it ultimately has been shown to save children’s lives, I am not in favor of mandatory Krabbe screening.

    While the intent of programs such as “Hunter’s Hope” is in the right place, unfortunately our current knowledge about the disease and its treatment options leave too much unknown in order to be an effective prevention method. To begin with, the disease is fairly uncommon, as only 300 children out of the 2 million screened in New York have even been flagged as having the disease. With numbers so low, it makes it difficult to study the disease in an ethical way, as each screening must be considered “research” and thus requires parental consent. Additionally, although it can be of some help to newborn cases, the cord blood treatment is very risky and only somewhat effective. Ethically as well, the results (or lack of) can be very traumatic for families and children, particularly if they have the late-onset type of Krabbes.

    Instead of making the test mandatory, I believe the best option moving forward at this time would be to spend more time and money in screening more babies for research instead of for telling the parents. This way, more could be learned about how to properly identify the disease and all its variations, and more effective treatments could be developed. After this, then I think it would be ethical and beneficial to implement mandatory newborn testing.

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  43. Because this test can help alleviate symptoms, has been proven to save a childs life and is more beneficial earlier compared to finding out later it is imperative that this screen test be mandated. However, other factors to consider when deciding if a screening test should be mandated, is whether or not a diagnostic test exists. Also, if a treatment exists, and if there is enough treatment for a population. Next, is the screening test cost effective, and is the disease screened for present enough in the population.
    Another factor to consider is the stakeholders and ethical implications regarding a newborn screening test. Telling a family that their newborn will potential get sick is devastating. However, I believe the benefits of catching a life threatening disease early outweigh the negative impact of telling a family. Potential negative consequences for the family, include anxiety and the possibility o having a screening test be inaccurate.

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  44. After listening to this story, I feel very conflicted about whether or not screening for Krabbe should occur. In terms of ethics, there will be complications if a health care provider does not choose to screen for a disorder that could potentailly save a child's life. Even though there is a very short critical period to get this test and treat potentially negative consequences, the family should still have the peace of mind in knowing that their child will not be affected by this disorder. That being said, a few implications of administering this test must be assessed. What is the total cost-benefit analysis of this test? How would this test be logistically administered? What is the sensitivity and specificity of this test? If this test is administered like testing for phenalalinine intolerance, how can we ensure that the results that families are getting are accurate and they are not loosing sleep over a false diagnosis?

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