I feel "mixed" about the Denver trip. They didn't do alot of extra testing like I expected them to. The only test they could think of that hadn't been done already was a blood test for Paroxysmal Nocturnal Hemoglobinuria (PNH), which seems pretty unlikely to me to come back positive. We'll see!
The doctor classified what Noah had as a "Thrombotic Storm" and entered him into a Genome Research Study (more information at http://www.stoptheclot.org/News/article181.htm ). We won't get any specific info back on Noah, but if it helps in the research process, great.
Hmmmm..... what else?? So I guess we just go back to taking Noah to Primarys with any new and unusual symptoms and hope that eventually we will either figure out what his diagnosis is, or he gets better.
7 comments:
Sorry it wasn't more fruitful.
In contrast to the bleeding experienced by approximately half of the patients with congenital dysfibrinogenemia, one subset of patients (diagnosed with fibrinogen Oslo I) has an abnormal fibrinogen that is associated with thromboembolic complications that are often relatively mild. The abnormal fibrinogen in these patients forms a fibrin clot that is resistant to fibrinolysis by plasmin.
Thanks for shedding a little more light on the issue Steve. Hey, I heard you did a genetic test. Did you find any weird blood gene mutations?????
I am so sorry- I know how frustrating it is when your kid is sick and you are getting no where... is that study with the NIH? If you go back there let me know- we could go together:) besides he would love the childrens inn- it is way cool! best luck!!! I'm praying for you guys:)
Lynita,
I miss you and I am just thinking about you! love you and your family so much-Becca
The genetic test I got back had a couple of catagories for blood, mostly unrelated. It did have one catagory for hemophilia, but it wasn't the type in my family, it was something like type XI, which is super common in the Jewish population. But the company supplied me the raw data of about 500,000 snips of genes. After reading your post I got motivated to use google to do a little research and decided that the test for Paroxysmal Nocturnal Hemoglobinuria would probably come back negative, since I don't remember you saying anything about blood in the urine. I found 5-10 dna snips that relate to Thrombosis, some of which were not supplied to me by my gene company. I found websites on rare blood diseases. I found out that there are factor diseases that are the opposite of hemophilia, Thrombophilia(sp?). I had promised my mom that I would get her the DNA test done for a Christmas present if I happened to have a positive November in the market, but started thinking that I would it to Noah in my moms name, just to see if it could give us any leads. Unfortunately November has been horrible so far for me. My thoughts are with you guys.
Thromobotic Storm? Sounds like a great title for Jacobs next novel.
I already talked to you about this so I'm just going to tell you that your verifier say spiri.
An incomplete spirit. Kinda like an incomplete diagnosis. But if anyone has the spiri to cope with it it's NOAH! Go Noah!
So fun to see you guys at the game. GO SIDERS!
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