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Thread: How do I find a doctor with expertise in mitochondrial disease in my area?

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    Default How do I find a doctor with expertise in mitochondrial disease in my area?

    We've spent a few years working to figure out the issues our son struggles with. At one point we had a very thorough assessment for adhd completed at a clinic quite a distance from the state we live in; revealed some vitamin metabolism issues/kreb's cycle stuff. I'm a very intelligent person but this is sort of out of my league and I'm not sure where to start. I suspect mito is some of his issues - he has a VERY poor appetite and slow growth. This is a daily issue for me. He complains about what I cook and then when I prepare exactly what he wants he still only eats a few bites. I am very concerned about this. He is simply never hungry. This has been going on for about three years. When he was a toddler he was a pig and he was a chubby little tank. Now he's tiny for his age and genetically, he shouldn't be so small. So....please help me find help in addressing this. I don't think we can ignore it; not improving. Thank you.

  2. #2
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    Hi Ashley . . . you are a *very* smart mom not to let this go!

    I think that Lisa Marie (mickey2) and I are your "mito moms" on this list. The tough part of the answer is, there are hardly any docs who are really good with mito, and they are hard to get into. Our doc is Richard Kelley at Kennedy Krieger/Johns Hopkins; he is not taking new patients now (he is concentrating on research) but his office may be able to give you a recommendation. We were super-lucky to get in with him a few years ago when I sent him a desperate email out of the blue when we were getting blown off at CHOP (more on that below), which struck a chord with him.

    Two of the treating bigwigs are Shoffner in Atlanta (mickey2's son's doctor -- she can tell you the saga of getting in with him) and Bruce Cohen at Cleveland Clinic. Marvin Natowicz is a neuro at Cleveland Clinic who has collaborated with Dr. Kelley on research into what they call "mito-PDD."

    I don't know where you live (um, where do you live?) but do *not* go to anyone at Children's Hospital of Philadelphia. They miss a ton of cases (my son's included) because they have blinders on and only diagnose based on a certain mental "checklist" (and the stuff on their "checklist" is wrong -- they told me my son could not have mito because he does not have cardiomyopathy, which is silly . . . but I digress).

    I suggest you run your fingers over right away to the yahoo group entitled "mito." Many many more mito families there than here, and no doubt many more names for "good enough" docs you can get in to see, to facilitate a referral (if necessary) to one of the bigwigs.

    Also go to www.umdf.org and see if they have links to help you find a doctor.

    Good luck! Hope this helps. Let us know if you have follow-up questions. I can tell you our story if you have a few years to read a long message. ;-)

    Lisa

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    Thank you for responding; I so very much appreciate this. I would love to read your whole story if you get time. I'll email you through inciid in the next day or so, ok? Thanks again!

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    Lisa - I'm trying to figure out how to email you through inciid - can't find out how! Any help? I thought if I just clicked on your user name the option of emailing you would pop up. I'd love to read more about your story and learn more about mito issues. Thank you.

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    While my children are not "mito kids" I am on another board where there are alot of moms with mito kids.

    I know that alot of these mom swear by a Dr K(not sure of her full name) at Children's Memorial Hermann Hospital in Houston, Texas.

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    mickey2 is offline INCIIDer - A Community Creator
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    we used dr shoffner, the guru of fresh muscle biopsies for dx'ing mito. we see him every 1-2yrs and he is working on some new research to determine ds's exact mito issues but for now its low creatine and mito complex 1, 2, and 4.

    we too self referred to shoffner after several therapists and picu nurses/friends kept bringing it up to me along with moms here. our ped at the time thought we were nuts.

    www.umdf.org is awesome and you can also call them for doc rec's. there is also a dr korson in ohio i think and another doc in boston...but i admit i dont keep track since we have shoffner here. we use a geneticist and neuro to f/u every 6months who also consult with shoffner and his new partner. our geneticist is shoffners former partner btw.

    long story, the wait for a mito doc is long, so if you suspect it, call now as you can always cancel the appt down the road....

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    Hi again Ashley, sorry for my delay in responding! I am such a lurker lately. So, here is the short version of our long story.

    Evan was born at 29w severely septic. He had every neuro complication under the sun, including the ones that they assured us they've never seen before in 29-weekers, then the complications that they had never before seen follow on the heels of the first ones . . . etc. You get the picture. We didn't know if he would ever walk or talk. He had global delays but with scatter skills like vocabulary. By 1 1/2 or so we were concerned about autism. He never engaged in much telling/showing/sharing behavior, didn't understand gestures, perseverated, and was echolalic. He was also very delayed in terms of gross motor, less so (but still delayed) in fine motor.

    At 2 he got dx'd with autism (technically with PDD-NOS, but that's another story). The CP diagnosis came and went and then ultimately stuck. We were seeing a neuro (who supposedly specializes in metabolism -- ha!), a developmental ped, a developmental psych, an orthopedist and a physiatrist. None ever spent time asking *why* Evan was having the problems he did; it really seemed perfectly obvious. The kid had been through neurologic he** and there was no "why" to wonder about.

    But dh and I started noticing huge variations in his day-to-day functioning. We would know the minute he got up whether it would be a good day or a bad one. If a good day, he would wake up and call out from his crib "mommy, come get me! good morning mommy! are you awake?" If a bad one, he would chant repetitively and tonelessly "pick me up pick me up pick me up."

    The interesting part was that on the "bad" days he not only acted more autistic, he was physically weaker and floppier. That variation -- and the fact that it seemed to affect him globally -- is what got me thinking "metabolism," or "energy levels" in a very layperson way. I mean, Evan has brain damage. No question. But damage wouldn't explain the huge variability in function. My gut was telling me that something biochemical was going on.

    So I started asking doctors about metabolic disorders, and I started an epic tale of getting blown off, scoffed at, and generally frustrated. Oh, and the autism doc telling me that I needed counseling to work on accepting my son's disabilities instead of tilting at windmills. Thank heaven, thank heaven for Kris who was on this board at the time. She was the one who taught me the terminology I needed to research mito and inborn errors of metabolism. But the more I pushed our docs, the more I got truly bad info (like the CHOP neuro who told me that my son could not have mito because he did not have cardiomyopathy, and that it's impossible to test CoQ10 levels), and the closer they got to firing me as a patient because they were so fed up that I would not drop it.

    I did insist on, and get, three different rounds of metabolic testing at CHOP, and three times the Metabolism doc reviewing the results said they were normal.

    In the meantime, Evan was having terrible croup episodes, and the ER treatment was epinephrine. Every single time he got the epi, he acted completely normal for hours. He would chat up the ER staff and walk endlessly around the halls (this was the autistic kid who couldn't really walk). It became sort of a running joke that the ER people would be incredulous when we told them his diagnoses. "Who called THIS kid autistic?!" they'd ask in disbelief, and we'd say "your colleagues!!!" Anyway I mentioned the epinephrine effect to our neuro and asked whether Evan might be deficient in neurotransmitters. He told me it was an interesting theory for future research, but had no practical application.

    I was starting to think that maybe I should give up, maybe they were right. But I couldn't let it go. Then I found Richard Kelley's research on what he calls "mito-PDD," essentially the theory that certain untreated mito disorders cause autism. I emailed him cold and described Evan and our saga. Luckily for me, it turned out that he had been at CHOP and (my inference) had a sense of what we were up against. He said to send him Evan's lab results. I did. He emailed me within hours and said "come to Baltimore."

    Turned out that CHOP's "normal" results showed what Dr. Kelley called a "footprint" of a mito disorder, but CHOP had never ordered the most basic precondition for metabolic testing: fasting, then eating a prescribed meal, to standardize the inputs.

    We went to Baltimore and did fasting blood and urines, then post-prandial blood and urines -- and there was our answer. Evan was getting hypoglycemic overnight depending on what he ate, so that explained his morning variability. The other laboratory indicators (I don't even remember them at the moment, sorry to say!) of mito were clear. The epinephrine clue that the neuro blew off fit perfectly into the explanation in a way that I don't presently remember, but Dr. Kelley thought that it was diagnostic and more importantly pointed the way to the proper supplements.

    Dr. Kelley felt that muscle biopsy would not add any info that we needed, and the indications were to start Evan on Carnitor, a custom antioxidant "cocktail," and bedtime cornstarch to stabilize his blood sugar. We did. Literally within the first week of Carnitor, Evan started using emotion words for the first time. He was 2 1/2 at the time. Approx 9 months later, the developmental peds were astonished at his progress. At 3 1/2, he tested off the autism spectrum entirely.

    The autism doc who had recommended that I seek therapy said that she has seen a recovery like Evan's in maybe 5 or 6 of 1000s of kids over the years. And the best part is that she now refers kids to Dr. Kelley!

    Evan definitely still has some Aspie features, and always will, but he's a quirky kid and it's part of what we love about him. He still has CP and walks awkwardly (that's the brain damage part, which is unrelated) but his stamina is much better now that he's being properly treated. We follow up with Dr. Kelley once in a while to check blood levels and for advice, but we are pretty much on autopilot now with the supplements. (And did I mention that we don't go to CHOP for *anything* anymore?!)

    If it weren't for inciid and the people here, I might have let the doctors talk me out of following my instincts. Follow yours! Hugs.

    Lisa
    Last edited by LandB; 11-03-2009 at 10:04 PM. Reason: spacing

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