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Hi everyone. I'm really hoping someone may be able to offer some suggestions. Almost 18 months ago, our then 2 y/o dd was diagnosed with toxoplasmosis. Docs thought it was strange that she became sick with it and was then even treated with big time meds for it. ("Healthy kids do not become...
We just received the results from our Ambry panel There was a mutation found with the S912L gene. Is anyone familiar with this one? Any info would be greatly appreciated!
We just received the results from our ambry panels and one mutation was found - the S912L. Is anyone familiar with this one? How have you seen it present? More GI? More lung? Just trying to figure this all out. Thanks for everyone's help!
Hi all. We are currently in the process of waiting for the genetic testing results for our 3 y/o DD. Today we went in for an upper GI and the radiologist told us that she has significant relflux. I was curious to know if this can have a cf link or not. Thanks for your help.
Allie
Hi Steve. We're one of those families in limbo and awaiting genetic test results. We will be having another sweat test next Thusday but in the meantime I had a question regarding the panels that were ordered for our daughter. I am very thankful that all we had to do was ask our ped for the test...
Hi everyone. I'm new to this group so please bare with me. Over 14 months ago, our then 2 y/o dd becme ill. Finally was diagnosed with toxoplasmosis. (something most of us are exposed to but it typically doesn't become symptomatic). She was treated (very rare in "healthy" kids) with a heavy drug...
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