“NEMO syndrome” blood test

The email I sent to David’s pediatrician about him doing this new NEMO mutation test–it definitely seems interesting– 🙂

Begin forwarded message:

From: Tara
Date: July 18, 2013 4:40:59 PM PDT
To: “Dr. Crosby”
Subject: “NEMO syndrome” blood test

Dr. Crosby,

I just wanted to let you know that Mica from Dr. Jennifer Puck’s office called, to let me know there is a new ‘NEMO syndrome’ blood test that Dr. Puck would like David Noah to do.

She said she would send the test kit to your office, and I was thinking we could do the same thing we did last time–I’ll bring David by when the kit is available, and then after his blood is drawn I can take the kit to FedEx.

I’m guessing they’re trying to figure out how much this NEMO mutation is in play with our immune deficiency…the theory at the NIH was that it was this mutation along with another mutation in combination that was causing disease, but CHOP now feels that the NEMO mutation has nothing to do with our problems…

I guess time will tell 🙂 I’m just so grateful that people are helping David–my wish for David, after all of these years of pain and suffering, is that he has a long and normal life 🙂



About hopeforanswers

Some kind of rare immune deficiency, yet to be determined. A lifetime of infections without an elevated white cell blood or fever. Very grateful to be alive, very thankful for the friends who’ve supported me and for access to literally millions of dollars worth of medical care. I’m not the bubble child, I’m somewhere in between.
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