Charlie's hem/onc called

Splash

New member
He does NOT have Wiskott-Aldrich disease.

We were pretty certain he didn't, but I am SO glad to have an official negative.

His WASP protein still might be defective, but he doesn't have a full blown case of WAS.

His von Willebrand's test came back almost positive again. He's gotten three results right on the cusp of positive and negative, so it's looking like he might have it. I don't really care. I CARE, but not that much. vW is not a big deal. His isohemaglutinnins is off again, though. Once it was 4 on a 4-264 scale, now it's 2 on the same scale. So he is definitely immune deficient (duh, his Ig levels confirm that) but no solid diagnosis yet.

But I'll take undiagnosed forever over a Wiskott-Aldrich diagnosis.
 
ADS

JaRylan

New member
That's great news! I know how you feel about getting things officially ruled out...last week I received the last of Rylan's test's results from Metabolics that say he does not have a, b, c, d, e....syndromes.
 

RubysGirl

New member
That's great news, and on the vW, you're right, it's very managable. I worked with a girl who has it, I'm not sure what type, but she has meds that help most small bleeds and otherwise the local hospital is familiar with her so she gets quick treatment.

I do hope that they figure out what's going on, not just for him but for the other kids aswell.
 

SPJ&E

New member
I'm so glad you can finally officially say "I told you so" for all those times you've said you know he doesn't have it...that's really great news!
 

AdventureMom

Senior Community Member
Good news! Thanks for posting... :)

I spoke to a neighbor who has a child with a rare syndrome - it took them until he was five to figure out what it was (he's 19 now). She said that she would try a geneticist and that Children's Hospital in DC has some of the top geneticists in the country. I don't know the history of what all you've tried, etc., but just thought I'd toss that out there.
 

Splash

New member
Yeah, he's had some genetic testing and we're moving into more...
One of his half siblings has also ben evaluated at National Institutes of Health for a Hermansky-Pudlak study, and in April will be a National Jewish (one of the top immunology centers in the world) for two weeks. We've been talking about getting all of the kids together somewhere and letting one doctor examine them all.
I think we're going to lay off most of the testing for now. We want to know, but we don't NEED to know. We might never know the origin, but at least we can now manage the symptoms. I just don't like having him repeatedly poked and tested and tortured for nothing. It's one thing when you're trying to find out what is wrong with a SICK child, it's something else entirely when that child is basically healthy with some underlying make him really sick demon... when he was really sick, we consented to everything. Now it's harder, because he seems so healthy. We know he'll have a relapse of whatever it is, but until then... I don't know.
If AJ can get her insurance company to go along (were talking several thousand dollars), she's going to have a genetic panel to isolate and rule out anything she might have given him. We're pretty sure she didn't give him anything, since all the half siblings are from the father and they all have the exact samy symptoms, but it's worth a shot. That's why we were so sure he didn't have WAS. He fits ALL the symptoms for it, and on paper that's exactly what it looks like, but it's x linked form mother only, and the chance of these four kids, related through the father, having completely unrelated yet identical immune deficiencies is pretty much nil.
 

LuvBug

New member
mmm yeah. Its like slim to none that all of them would happen to get the same thing from 'their mother' when its 'their father' that is the only link between them all.
I totally understand putting off more tests, especially now that they ruled out this. As long as he is healthy and comfortable, its so good that you can treat his symptoms and keep his outbreaks down.
 

rlsadc

Senior Community Member
its good to hear that he is feeling better...i hope you can get an appropriate diagnosis so that you can treat him effectively. but it definately make sense to hold off on the testing (theres no use in making him miserable when he is feeling good)
 
Great news!!! I'm glad you can put that out of your mind completely now, or maybe rather that the *docs* can put it out of *their* minds... ;) But still it's great news all around that Wiscotts-Aldrich is out!
 

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