Thank you very much for your insight–I will talk with Noah’s doctors and coordinate the ordering of these tests, and I’ll have UCLA send both of our blood samples at the same time 🙂
I’m not sure how long the results will take, but I’ll send you a copy the moment I receive them–
Is there any other tests on that list that might be of interest? I really want to do the C3 test…it might not tell us anything, but with Noah’s previous test results I’m just curious, and I think it’s worth doing too–
I’m keeping fingers crossed this is the final answer, then I can open up the discussion of Noah doing a little IVIg, not a full dose right now, but I think a little will help him feel better–
(I read on an NIH website, the treatment for C2 gene dysfunction is IVIg and daily antibiotics (and just through learning and observing us through the years, I’m already on both and Noah is on daily antibiotics), but a little IVIg might actually better ensure Noah doesn’t hit major health problems as easily as I did…a confirmed C2 gene dysfunction would justify the IVIg–and with any luck, a little IVIg might protect him for a long time–)
On Jun 20, 2017, at 4:30 PM, Ryan G wrote:
Hi Tara – No bother. This is something I’ve wanted to resolve for a while now. Interesting find. C2 is the gene of interest that I think may not be making a functional protein, so based on the form, I think C2F is the functional assay that we want.
The only other mention of C2 is C2L. C2L is gives a level by RID. I’m not completely sure what this is…perhaps checking the amount of C2 being produced is my guess. There was nothing pointing to a lack of C2 so I don’t think this one will matter, but I can’t be sure.
I think based on everything we have done to date, C2F functional assay is the correct one.
On Tue, Jun 20, 2017 at 6:50 PM, Tara wrote:
I’m sorry to bother you with this (congratulations on the new baby coming :), but I need to move quickly because I may be forced to move back to Canada soon (for my medical expenses 😢).
I received this link about C2 testing done at National Jewish — which tests do you think could provide the most helpful information about Noah?
(He once had all of those strange results from the ALPS testing, that showed something wrong possibly with C3.)
Noah’s pediatrician is willing to write the order for the test, which just don’t know which tests to order.
Thank you very much for your help. 🙂 I’m glad everything is going well for you–