Today I received notice of a new article on CVID and the information is pretty exciting! In Utah a mother with two children (all of whom have CVID) enrolled in a genetic study for CVID and the researchers discovered another gene mutation associated with causing CVID. In addition to testing the mother and her two children they also found another person (out of 35 tested) who also had the gene mutation. They don't know whether it was a mutation that all four of these people were born with or whether the gene mutated due to some other cause.
"NFKB2 gene impairs a protein from functioning properly, which interferes with the body's ability to make antibodies and fight infection."
The article also stated that there's a new test developed by ARUP Laboratories that involves testing for this gene mutation that will be available in May of 2014. The new test will help doctors diagnose CVID. I hope that this new test will help CVID patients who are borderline in terms of antibody numbers get a more definite diagnosis that will ensure insurance will authorize treatment for them. No more of this "We won't cover because your numbers are borderline and your doctor didn't test your pneumonia titers to see if you built antibodies". Wouldn't that be wonderful? Too many of my friends in my CVID support group have had to wrestle with insurance companies to get treatment because their doctors weren't knowledgeable enough to follow a diagnostic criteria that insurance companies would honor. I'm blessed in that regard, despite the fact that I am not currently getting IVIG treatments.
This is so exciting because it means that there is more research being done to find out the cause of CVID and they are making discoveries that could one day lead to a cure! I expect that somehow I may have interacted with the woman in this study. There are few enough of us in the United States that it's not that unreasonable an assumption. If so, or if you are reading this, thank you for getting involved to help get us some answers! :)
