Needle in a haystack — The Bump
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Needle in a haystack

DS had his Metabolics/Genetics appt on Thursday, they finally got his results back from the CPT II genetics screen - negative. The specialist was so sure he was right (so was I). He's been studying ds' case for 18 months, and hasn't had any more idea about what ds has. And he's high up in his field - officially stumped. DS didn't take it very well. He's still very silent about it all - his words - I just want to know wtf is wrong with me. It hurts that he thinks he's flawed, and I'm sure that part of that is true hurt along with teenage hormones. I get it. It's been 14 years and no answers. Mine is, keep calm and carry on. What the hell else do we do?

His next solution is Next Gen sequencing. Since the machine is so new to our hospital, ds has to get approval to be part of a study in order to have the testing done. Even if they would let us pay out of pocket (they won't, yet), it's too expensive at this point. So, we may have it done by December, or, in the next couple of years. And there's no guarantee that they could match with a known disease. So, for the moment, we're waiting. Again.

Sorry for the vent - I'm kind of tired of appointments with no answers.



Re: Needle in a haystack

  • It's so frustrating. We are enrolled in a study that is doing really sophisticated genetics testing (SNP array) and it's found nothing for DS.

    Hang in there. It must be hard for your DS.

     

  • imagethefuturemrskudla:

    It's so frustrating. We are enrolled in a study that is doing really sophisticated genetics testing (SNP array) and it's found nothing for DS.

    Hang in there. It must be hard for your DS.

     

    Sounds like similar testing. I'm well prepared for it to turn up nothing, I'm not sure ds is. He's not handling it well at the moment, I'm going to have to bring it up with his psychologist.

    14 years. You think we'd know what we're doing by now. I don't think the doctor's news that worst case was the testing might not get in until he's 20 went over well at all. He said after all he's had to go through, he'd get to know. With all his dx, all he wants is answers, and most of all to be normal. I can't give him that. Where's a fairy god mother when you need her?



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  • SNP is different from genome sequencing, I think, from my limited genetics knowledge.  When P had genetics testing done last year SNP wasn't the 'normal' but this year it is.  The people at KKI told us about it.  

    We are pretty burnt out on genetics right now.  It comes and goes, where i'm all, "OMG SHE  MUST HAVE  GENETIC DISORDER I SHALL STAY UP 12 HOURS ON GOOGLE AND FIND I!!"  

    vs.

    meh.

    I'm sure it is so different for you since he has an opinion, he is 14.  I hope he can find some comfort in accepting that this is just a 'now' thing and that he has every possibility of getting his answers.  

    DD1(4):VSD & PFO (Closed!), Prenatal stroke, Mild CP, Delayed pyloric opening/reflux, Brachycephaly & Plagiocephaly, Sacral lipoma, Tethered spinal cord, Compound heterozygous MTHFR, Neurogenic bladder, Urinary retention & dyssynergia, incomplete emptying, enlarged Bladder with Poor Muscle Tone, EDS-Type 3. Mito-Disorder has been mentioned

    DD2(2.5): Late term premie due to PTL, low fluid & IUGR, Reflux, delayed visual maturation, compound heteroygous MTHFR, PFAPA, Bilateral kidney reflux, Transient hypogammaglobulinemia, EDS-Type 3


  • Like 14 isn't a hard enough age as it is. I hope he can come to accept the uncertainty, at least for now.

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