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Milwaukee Journal Sentinel Wins The Pulitzer

Jane Clayson in for Tom Ashbrook.

Reporters from the Milwaukee Journal Sentinel just won a Pulitzer for their story on genetic sequencing and a young boy fighting for his life. They join us.

Nicholas Volker. Photo: Gary Porter

Nicholas Volker, 5, of Monona, Wis. holds tight to the arms of his mother and a nurse. (Photo: Gary Porter, Milwaukee Journal Sentinel.)

When Nicholas Volker was just 17 months old something went wrong. Doctors found pin prick-sized holes in his intestines. Waste leaked into his abdomen.

One In A Billion Web Site

"One In A Billion" Web Site

Hundreds of surgeries later and still, no diagnosis. No cure.

Then, a cutting edge idea – mapping Nicholas’ DNA. A technology before it’s time, but Nicholas’ last hope.

The Milwaukee Journal Sentinel won a Pulitzer this week for its series on Nicholas and the genetics which might save his life. But plenty of emotion and ethical questions attached.

This hour a conversation about technology on the cutting edge and one boy’s life.

See videos and photos from The Journal Sentinel’s award winning series.

Guests:

Mark Johnson, medical reporter for The Milwaukee Journal Sentinel and winner of the Pulitzer prize for the series “One in a Billion: A Boy’s Life, a Medical Mystery.”

Kathleen Gallagher, business reporter for The Milwaukee Journal Sentinel and and winner of the Pulitzer prize for the series “One in a Billion: A Boy’s Life, a Medical Mystery.”

Howard Jacob, professor of physiology and human and molecular genetics at The Medical College of Wisconsin and director of the Human and Molecular Genetics Center.

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  • http://twitter.com/mem_somerville mem_somerville

    This is such a great success story. But people also have to be aware that there are some sequencing results that may tell us what the problem is, but there may still not be a solution to fix it. Yet.

    I’m just concerned that some desperate parents may put all their hope in this, and it’s too early for it to work in all cases.

    • Mmack

      You are correct that there will not always be a solution. In fact, there may rarely be a solution. But identifying a mutation may be the first step in identifying a treatment plan, whether it be for that patient or for the next patients who present with the same mutation. And for many families on diagnostic odysseys, just having an answer provides some solace.

      • http://twitter.com/mem_somerville mem_somerville

        Oh, I agree completely. But there is a risk of charlatans promising parents things that they won’t be able to deliver. I think the system that was set up by the MCW is great–well thought out, and reasonable. I just hope that parents will have access to credible counseling and guidance on the realities.

    • Tina

      I had genetic testing with my breast cancer. Hospitals that offer this have departments with ethicists and genetic counselors. There is quite a bit of counseling and time between when you ask to do this and when you get tested. Specialized and supportive counseling is part of the process automatically when you receive your answer. Not everyone would even be eligible: I had certain personal/medical and social/family criteria that met some of the guidelines. The counselors are trained specifically in these issues; they are not just people talking off the cuff. This whole process is highly specialized and scrutinized. Even existing programs are still scrutinized — very rigorously.

      These hospital-based genetic testing programs would be well aware of the risks to overly-hopeful parents. Also, when you say, “and it’s too early for it to work in all cases,” I was told that my test results are still in an active bank; that IF another breast cancer genetic marker were to be discovered, that my first test would already provide researchers with enough information to detect whether or not this new scientific information could benefit me. If that is what you were referring to by “early”, I hope this makes you feel better.

      By the way, my family was very fortunate, because I did not have the known genetic markers for my breast cancer.

      • http://twitter.com/mem_somerville mem_somerville

        Oh, yes, that’s my concern though–that some people outside of hospital settings will lure parents with promises that they may not be able to evaluate. I see this a lot in the case of autism, for example. There are so many alt-med charlatans that make promises that cost parents huge amounts of money but don’t work, and could actually harm the kids. I’m seeing people right now target the “worried well” with aging and skin treatments based on their supposed DNA markers.

        Here’s another issue: I also have a family history of breast cancer. But I also lack the big, well-known markers. Yet those markers only represent a small fraction of the breast cancer genes. Many people don’t realize that, and will assume that not having a couple of specific genes puts them in the clear and they might skip screenings, for example.

  • Njph1012

    I can empathize with the family, having spent plenty of time in Children’s Hospital Boston with my daughters, but honestly…portraits???? In the hospital?????

    • Nic Volker’s Mom

      I’m not exactly sure what you mean by your comment “portraits???? In the hospital????? And I won’t make any assumptions as to how much time you have spent in the hospital with your daughters but if you haven’t read the whole story or don’t know the facts and even if you did and you do, please don’t judge my family! I wanted Nic’s story to be made public to give other families hope…. especially the parents of chronically ill children. While this isn’t the “whole” story as the series is based in science it still has alot to offer. My son Nic had spent over 700 days in the hospital most being before the age of 6. Unfortunately between 2009 and 2010 he lived more in the hospital than at home with almost 300 days in 2009 and around 230 in 2010.
      The hospital WAS Nic’s home and he was rarely allowed off hospital grounds during the duration of his stay. We are not in a competition by any means, I don’t wish one day in the hospital for any parent’s child other than after childbirth but lets be realistic not many children, not even pediatric oncology patients have stayed IN the hospital as long as Nic. As LYBBA says, “Do good, be well.”

  • Wrkelly10

    So, how did they fix it for this poor little boy?? Presumably they did…

  • Abigail

    What makes me absolutely INSANE about this whole story is the fact that its “one in a billion” tag is only such because there are thousands of other children and adults in this country that are suffering from the same type of genetic “misconfiguration” but have gone undiagnosed or brushed off because most doctors aren’t as thorough as they should be and most people aren’t as severely afflicted, so rather than deal with the agony of navigating the waters of health insurance, specialist referrals, taking time off of work, etc., it’s just easier to try and live with the pain. I know, as I’ve been written off as having “some kind of autoimmune disorder” with a shrug of the shoulders and the attitude that I should just stop trying to find an actual diagnosis and deal with it (this by some of the best and most touted doctors in the Boston area, mind you). As long as the FDA continues to approve GMOs in our foods, we are going to see a staggering surge in the amount of unspecific “autoimmune” disorders that will be tracked back* to genetic mutations in people as a direct result from ingesting organisms that ARE NOT FOOD! (*the powers that be permitting the time, finance and research of course)

    • Anonymous

      GMOs aren’t the product of mad-scientist movies. They’re simply a variation on what we’ve been doing for thousands of years. Oranges taste sweeter; wheat gives higher yields, and on and on because we’ve been modifying their genes.

      • Abigail

        Of course they’re not–they’re chemicals; things that have been occurring in nature that are now “different” so that crops yield bigger harvests, are less susceptible to blights or droughts, etc., but which slight alteration is NOT natural–if that orange isn’t sweet because it didn’t grow that way, I don’t add chemical orange flavor to make it so and don’t want some government agency approving the right to do so to any corporation with enough money and lobbying power. We certainly have not been genetically-modifying food for thousands of years–we have allowed evolution and the choice of which seeds we plant to determine what we eat/grow; genetically modifying food does not refer to that slow process that takes decades to change the types and strains of foods we eat, it refers to someone adding chemicals to foods in order to keep them artificially fresher, “better tasting” and more likely to make it through cross-country transport–all developments made SOLELY to aid business with no regard to the greater health implications. There are no longitudinal studies on the health effects of GMOs–that’s no accident. This poor child’s entire disease was tracked to one awry allele in amino acid sequencing–how in goodness’ name can anyone deny the direct link to the fact that that is the precise mechanism used to genetically modify foods to make a wheat harvest greater or that orange so-called sweeter?

        • Anonymous

          Because the genes in the food don’t change our DNA. It is possible for a modified organism to produce a substance that causes an allergic reaction in some people, but that needs to be something studied in the evalution. It’s not a reason to reject a new technology that has the potential to feed and power the world.

          • Abigail

            Perhaps not in the first iterations, but as more and more children are diagnosed with diseases that either never existed, or were exceedingly rare, in increased numbers, your assertion will hold less and less clout, as it is merely an assertion and not provable; it’s simply been endorsed as the “rational” response so people will subscribe to the rhetoric more readily, as you have. And are you serious? “Potential to feed and power the world?!” We can’t even get wind farms approved because the uber-elite are upset about ruining the view out of the third story balcony in their summer homes and millions of children continue to die in this country and across the world from malnutrition and hunger–this technology is not a humanitarian effort–it’s greed, pure and simple.

          • Anonymous

            More and more children may be diagnosed with these diseases because a generation ago they would be dead.

            You complain about hunger an malnutrition, but big business (so evil!) has been working on solutions to these problems…maybe it is because it helps their bottom line, but who cares? For instance,
            GMO cassava’s with protein, GMO crops resistant to wheat rot, GMO plants that need less water.

            (These companies do bad things in the U.S. when they prevent seed storage by claiming their own seeds were “stolen” in the storage process, but that is a separate issue).

    • Tina

      Abigail, Hi. You are clear, yet unclear, and I do honor your privacy, so I’ll just throw out a few ideas that I’ve found are “the culprit”, or “the fix”, to problems I’ve had, or friends have had:

      1) Sorbitol, aspartame, mannitol in food OR as an INactive ingredient in prescription medications (sorbitol IS used, unbelievably!!). Most of these cause gastro-intestinal issues, but I have written here a lot about how I was cognitively impaired by aspartame that was in my cereal without my knowledge. It may have been giving me daily mini-seizures. In any case, I experienced 4-6 hours/day of painful dizzy spells (sounds like an oxymoron, but this IS an excellent description). No doctor could figure it out; I identified the culprit due to a fluke!

      2) Physical therapy: many doctors do NOT understand the spine. When the vertebrae are being pulled by extremely overly tight muscles on one side of a joint (and there are many, many joints in our spines!), especially for awhile, as bones, they pull in their troops to “help”. The troops/help are bone spurs — some help! The bone spurs can then start to scrape against the spinal nerves; these are the peripheral nerves that come off the spinal cord on their way to different parts of the body. That kind of pain is OFTEN misdiagnosed by medical doctors as representing an autoimmune disorder!!! How do I know this? because it happened to me so many times, and it has happened to friends. My personal belief is that THIS is what is misdiagnosed as Fibromyalgia. In other words, I believe that Fibromyalgia is just a DESCRIPTION of the pain CAUSED by this underlying condition. This condition (vertebrae bringing in spurs, nerves scraped) is called spondylosis. It is particularly common at the neck, and from “non-physical” work like typing at a computer. Spondylosis also gets worse, and each of these worse stages has a different name, tho they sound like spondylosis with “extensions”. Ugh!!! Anyway, a really good PT, especially one with excellent knowledge of MANUAL PT manipulation techniques can help you, if this is your situation. PT manipulation is a highly specialized term — you needn’t be afraid of it; there are also very clear contraindications regarding its use. I wouldn’t recommend those places that use traction. Find a manual PT with a specialty in the spine, if this is your situation.

      I’m hoping that maybe some of these ideas might help. I am astounded at how many friends had one of these issues, and their lives were back to normal once they figured these out — without doctors’ help, sadly.

      • Abigail

        Tina,

        Thank you–not only for the specifics you offer, but for the affirmation your words convey; I often describe the situation as similar to going down the rabbit hole–once you take the tumble, there’s no way back up and the only sanctuary to be had will be the one you make and discover yourself; it is the knowledge that I am not alone in this journey that helps to make the dark a bit brighter. I wholeheartedly believe your take on aspartame, sorbitol and mannitol–though I’m going to have to do some research on the latter two–have really been curious about the “inactive” ingredients in prescription drugs these days and your tidbit on this count is invaluable. Not to digress or become overly personal, but I sincerely think you’ve possibly hit the nail on its proverbial head in naming the spine as the underlying culprit–again, have been wondering about this for a while now, and your input has given me the impetus to keep pursuing, despite the callous nature of “health care” (for the most part), despite the despair that goes along with dead ends and the desperate desire to finally “be better,” and despite the discouraging words of the naysayers who have yet to take the long, disorienting tumble down the rabbit hole (for I believe we are broaching the point where it will become an inevitability and just a question of when). Thank you.

        Sincerely,
        a.

  • Tina

    My dream is that people start saying about the cost of this kind of thing, “Well … we could take the money out of the military budget!” And then, worldwide, countries would start spending on Health instead of on Death. And, the countries that did NOT do this for their people? They would be ostracized: no one would trade with them. Yes, they would have the armaments, and they’d go on the attack to get what they wanted, but they wouldn’t be able to make a real go of this because their own military would we well-versed in the liberty-seeking behaviors of the military people in Egypt! We have the money; Cheney and his cronies STILL are pulling strings to get us to spend our American dollars on Death, not Health. I’m talking about “countries” being involved in this, because I do believe that helping with catastrophic diseases/conditions should be spread out throughout the entire populace where the cost would probably be pennies per person. Even as the pennies add up, the cost would still be remarkably low, while being so beneficial to the patients as well as to the helpers. True humanism.

    • Anonymous

      All it takes is one nation that won’t play along with your pacifist system to ruin it, and you’re discounting the strength of nationalism.

  • Andrea Kuhn

    How is this related to the controversy related to patenting genes? This is a concern.

    • Tina

      How is “this” related? I’m not sure that I know what you are referring to, exactly. But, my post was in anticipation of someone saying that if this kind of testing “took off” that we wouldn’t have the money to pay for it.

  • Samantha

    Thank you for bringing this story to us.

    I wish all the best to the boy and the family and his stoic mother.

    It makes me cry looking at the pictures and videos, as I am a mother of a little boy as well and I just thank god that hopefully we will not have to deal with something like that.

    As a parent, all I want is for my child to be healthy and happy.

    Thank you

  • PeterMelzer

    Nicholas is afflicted by a grave, undiagnosed disease. The course of action provided more insight into his affliction. One mutation was identified. Others may have been missed. Regardless, sequencing his genome made perfect sense. However, is it a good idea that we all be sequenced preemptively? For most, the result would be a catalog of risk factors. At what risk would we act? Would we seek preemptive treatments against possible afflictions? Who could possibly pay for this? Personalized medicine is no panacea. It will provide help to some, and I do sincerely wish that it helps Nicholas. But for the rest of us the word is still out.

    Read more here:
    http://brainmindinst.blogspot.com/2010/07/human-genome-false-promise.html

  • alex.m

    While I certainly admire the persistence of the doctors and the science that makes such diagnostic tools available, I personally have a major problem with individualized medicine at a huge expense as well as many life saving/prolonging treatments that are being developed and used. I know many find this thought unpalatable and inhumane in some respects, but at some point a conversation needs to happen with regard to the cost of saving individual lives. It seem absurd to me that hundreds of thousands of dollars are spent on individual cases and yet there is no funding to provide much less expensive basic services to a very large uninsured, under-insured and plain poor population in this country, which could save many more lives and make them more useful and productive for society as a whole.
    Having said that, I wish all the best to this boy and his parents and mean no disrespect.

    • Agree

      yes. it’s true, there needs to be some kind of sanity applied to distribution of resources in the world. water, oil, healthcare, they’re all scare, and …….

    • anderson

      booo

    • BL

      I strongly disagree. Many great technological breakthroughs involve excessively expensive products/solutions, and if highly useful, we figure out how to make the solution more affordable to benefit many. Did we really need to put a man on the moon when people are starving ? Did rich people really need a car back in 1900 ?
      No but we all benefit from what only the rich could afford back then. You do go for your checkups in your CAR don’t you ?

  • Bi11me

    The cat is out of the bag. Although this is clearly a grossly expensive procedure, it may well lead to practices that will benefit many people in the future. There are always first cases, and though this may be one in a billion, there are in fact billions on earth now and many billions more (one hopes) on the way. I know that my children are priceless to me – an opinion I think is not rare among parents – who decides which person is not worth the effort?

  • How is the information gathered from these gene mapping techniques actually lead to a solution or treatment of the disease?

  • Czigmund

    Not enough light is shed on the treatment after the diagnosis is finally achieved. What is the intended purpose of the umbilical transplant. Where was it transplanted to? Why? What happened? What is meant by his “new immune system?” I’m intensely frustrated by the lack of explanation of this phase of the story.

    • Mark Johnson

      If you want to understand the purpose of the umbilical cord blood transplant, why it was done, etc. please consider reading the series, particularly the final part: http://www.jsonline.com/features/health/112249759.html
      I hope you’ll find your questions answered. Not always easy to do that on a single hour of radio. :-)
      mark johnson

  • Miriam Meisler

    It is DNA Sequencing, not DNA mapping

  • Henry Hill

    Not once did you ask: How much did this cost and who paid for it?
    How could Ms. Clayson overlook these kinds of questions?
    Did the “Pulitzer prize winning journalists” ever ask these questions?
    What a sham. Was everyone involved in this program and the retelling of the story so emotionally overwhelmed that they lost their judgement?
    One hour of fluff, fluff and sap.
    Henry Hill

    • Mark Johnson

      Dear Mr. Hill:
      The stories clearly mention the estimated cost. Keep in mind that tallying times for doctors and nurses is inexact at best. The ballpark figure was $75,000 for the sequencing. Sorry you felt the story was “fluff.” You may feel differently when your hospital begins using these techniques–and it undoubtedly will.
      Mark Johnson

      • MP

        I agree, people need to read the actual piece before they start spouting off. For those that weren’t inclined to read the story, donors paid for the $75K sequencing. The real cost was his years of medical treatment and trying to figure out what was wrong before that – he maxed out his insurance lifetime benefit at $2 million before they even started down this route.

    • John199453

      cuz money is no option

    • Brennan511

      If the price tag goes down exponentially… then the future is unknown, but if this is indeed a BIG money hole not a predictable funnel; then we need to recognize with our own eyes what is going on for better or before. With Esteemed alternatives ^ compassion.

    • Shawn

      I disagree with your view. The scientists who undertook this work discovered a novel mutation in Nicholas’ genome. Now they have narrowed down the cause (to the exact base pair(s) that causes this), quick diagnostic tests can be done to detect this for future cases.

  • Brennan511

    Medical “attention” I’ve found gives persons a one-up in life, like everyone I know who’s had orthodontic work [confident lives]. However I feel that such “sustained attention” should be aimed at genetic excellence, after all the perfect are the movers and shakers, and THEY! require affirmation because perfect [genetically] people are the future, who’s psychological attainment is a characteristic worth maintaining and indeed sheltering & nurturing… or geopraphic fostering culturally unsequenced children LEFT BEHIND [certificate please].
    Deeper into ethics and back to science {3-D sonar} i Desperately want to know what genetic surrogacy [IVF innside imperfect... wombs] produces? Could a superman Embryo be born in the 3rd world in poverties womb and then return [ultra innocent] to the Planet of his destiny? or does the womb/placenta dictate outcomes? at any degree?

  • Editors

    A great place to discuss topics like this live are at http://www.personalziedmedicinetv.com. Watch for their live shows or some updates at http://www.youtube.com/user/PersonalizedRxTV

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