william syndrome/genetic testing

Discussion in 'General Parenting' started by Ktllc, Nov 5, 2012.

  1. Ktllc

    Ktllc New Member

    I received the report from the Autism Spectrum Disorders (ASD) evaluation.
    It listed 9 recommendations, including genetic testing for atypical William syndrome (no MR and no heart issues as far as we know).
    I talked to the pediatrician today and she said that she only knew of one geneticist in our area and the waiting list is about 10 months.
    It will likely cost several thousands of dollars depending on the tests recommended.
    husband thinks it's a waste but will not go against it if I wish to proceed.
    I'm very conflicted, because V IS atypical. I can see why the PH.D doctor thought of William syndrome: the paradoxe of a cocktail personality combined with big social defficits.
    With grown ups, V is an absolute delight (was even put on the report!). But yet, he has difficulty with theory of mind.
    The internet mentions the very striking "stare" that babies with William syndrom have. That was V: he would stare at you in the eyes and it felt like he was trying to read your soul. Anyone who knew him as a baby remembers it vividly.
    Ultimately, I'd like to know. But is it reasonable to spend so much just to know? Wouldn't be cheaper to just see a heart doctor and make sure there are no uncovered issues?
    Does it matter wether we call it atypical Autism Spectrum Disorders (ASD) (read: Pervasive Developmental Disorder (PDD)-not otherwise specified) or atypical William syndrome? At the end: V is atypical and probably the reason all the specialist are puzzled by him and sometime struggle to help him.
    At school, he is not learning like the other kiddos and the teacher already mentioned holding him back or, more precisely said "V will not be held back just because of reading problems". Meaning that reading issues don't warrant holding a child back, there needs to be more issues.
    So yes, she was trying to be positive, but all I keep out of it: the teacher is already thinking that V might need to be held back.
    She is very positive about his work and never forgets about his numerous challenges, but bottom line: he is not learning as fast as his peers.
    So how does it help to call it Autism Spectrum Disorders (ASD) or William syndrome?
    Either way, V is not behind enough to qualify for an IEP.
    Either way, his therapist are working on his lacking skills and building on his strenghts.
    Yep: I'm confused!
     
  2. HaoZi

    HaoZi Guest

    A definite answer should be able to land you that IEP even if he's not falling behind now, to help prevent him from falling behind later.
     
  3. TheBoyHasArrived

    TheBoyHasArrived New Member

    We were referred to genetics because The Boy's psychiatrist was concerned about WS versus Autism Spectrum Disorders (ASD). If I hadn't been so panicked, I would have realized that The Boy has almost no typical symptoms of WS that weren't also common in many other disorders...he just didn't fit in any other box and has some atypical facial features. In the US, the genetic testing was fast, but very expensive and not covered by insurance....and completely pointless. In retrospect, we should not have pursued the testing for my kiddo. Especially since the common health concerns with WS are applicable to kids who have obvious medical needs. But, I understand NEEDING to rule out WS just so you can move on...I'm not sure I would have been able to relax if we hadn't done the testing.
     
  4. TerryJ2

    TerryJ2 Well-Known Member

    I'm an information person and I will waste my last penny on books, internet searches or medical tests. Do NOT ask me for my opinion, lol!

    I still think you need an IEP. I'd get the therapist and referring dr to write up letters for you. That teacher ticks me off. I understand not holding him back, but he needs interventions. Now.
     
  5. Malika

    Malika Well-Known Member

    Ktllc, my two or twenty cents' worth is that I wouldn't waste the money. J also had a striking stare as a baby... has this tentative diagnosis been made principally on the basis of facial characteristics? That is not very reliable. Obviously you should check out the possibility of a heart defect.
    Why is the Autism Spectrum Disorders (ASD) diagnosis not enough to get an IEP??
     
  6. SomewhereOutThere

    SomewhereOutThere Well-Known Member

    Wouldn't your insurance cover it? Ours did. It was a great relief to find out that Sonic had no genetic disorders because we're the type that like to know what we are treating and to have as much knowledge as possible. Insurance covered it 100%. The long waiting list wasn't a big problem because we were still giving him his interventions. In his case they were trying to rule out a lot of things, including Fetal Alcohol Syndrome (FAS) and fragile X and Prader Wille Syndrome. But he had the gamut of testing.
     
  7. InsaneCdn

    InsaneCdn Well-Known Member

    I'm with MWM... easier to deal with what you know, than to deal with the unknown. But... I wouldn't break the bank to do it, there has to be some cost/benefit analysis. For example - Speech Language Pathologist (SLP) screening wasn't covered for us because schools don't do any after grade 3... we paid out of pocket, but it was a low three-figure cost, definitely worth it. Six Grand... definitely requires cost/benefit analysis.
     
  8. buddy

    buddy New Member

    Are you sure your insurance wont cover genetic testing? Quin's did and he recently had it done. (nothing found). His symptoms could overlap with so many things that to put all the eggs in one basket may be a huge financial risk, and as time goes on....for the sake of your other children and their children maybe it would be more worth it, but if he is otherwise healthy I think your feeling to check out for physical issues is probably enough for now. There is not particular treatment for WS in terms of medicine to stop it or anything.

    It comes down to what you need for your peace of mind though. Maybe talk to your pediatrician and see what they think?
     
  9. slsh

    slsh member since 1999

    To me, the question would be: Does confirming/ruling out a diagnosis of William syndrome do anything for V in realistic terms? Would it change what you're doing now? If it would, then I'd go for it. If not, then I wouldn't.

    thank you had so many diagnoses over the years, and it was just so incredibly frustrating, because at the end of the day it didn't change a darn thing in real terms - no magic cure, no magic strategy for getting him to function. It was all variations of the same old same old.
     
  10. Ktllc

    Ktllc New Member

    To answer a few questions: we have a family deductible of $10,000/year. So yes, insurance will probably "cover it", which really mean we'll pay the full amount and it will go against our deductible. It will be pricey.
    The reason we are recommended genetic testing are the following:"V shows some dental features and the sensory and auditory processing differences mentioned in that or other syndromes. if V is found to have a known and clearly described syndrome, it may provide the explaination for his group of challemges, as well as providing any potentailly relevant information about other, possibly internal and therefore not obvious, physical health conditions which may accompany the syndrome and need monitoring".
    And his unsual friendlyness with adults is one other thing that made them think of WS.
    But I do agree that the waiting list is not a huge issue. We are not in an emergency situation.
     
  11. Malika

    Malika Well-Known Member

    Is one possibility to do as much research as you can yourself (yes, with all that spare time you have to fill :)) and maybe rule the syndrome in or out before going down this expensive route of testing?
     
  12. SomewhereOutThere

    SomewhereOutThere Well-Known Member

    K...since there could be physical problems that you need to monitor, why not just put it on hold and save up for the test? It's not like you have to know RIGHT NOW or even THIS YEAR. That's what I would do if I had to pay up front. Heck, you can't go broke over a test, but it probably is a good idea to have it done some day. But that doesn't mean today or even next year.

    Good luck. Hope we helped you.
     
  13. Ktllc

    Ktllc New Member

    Bottom line: I don't think I can move on unless we proceed with the genetic testings. And should something ever happen, I would never forgive myself.
    Then, it would give an explanation for his being so social with grown ups and his animated, full of colors ways of talking.
    Maybe, we would have a better fitting diagnosis. It would not take his already identified challenges away, just explain why he does not *look* Autism Spectrum Disorders (ASD).
     
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