Genetics, Confusion, and Me

File this under TIL at the conference...

I went to several sessions discussing both Severe Combined Immune Deficiency and genetics but I really didn't think I would have the same kind of revelations I have had.

At the last conference, I learned that my having a primary immune deficiency isn't quite as random as I'd been led to believe. My grandfather passed away from complications resulting from Scleroderma, an autoimmune disease. My father has B12 neuropathy, more than likely related to an autoimmune dysfunction. These are connected in an interesting way. They all are connected via the T-helper cells and are basically sides of the same coin. It was as though a light went on in my head and I finally understood.

I found out through further research that my grandfather's family had a history of such diseases. My great grandmother wrote of symptoms that sounded like autoimmune problems in her letters to my grandfather. Also, such autoimmune conditions are more common among the Amish. My grandfather left the Amish and took the gene malfunctions with him.

Sitting in several genetics lessons, I had been told several times that CVID is not really connected to any particular gene. There are several that are related, the TACI gene being the most recently discovered one, but there is no clear path for genetic testing.

Then I went to a genetic counseling session. One of the mothers in the session pulled me aside after to tell me that the RAG dysfunction genes run in the Amish and have been shown to relate to B Cell disregulation, similar to what happened in my family with the autoimmune problems and my PIDD. It has specifically tied to SCID.

Uh. What? The next step will be to discuss this stuff with my immunologist at my next appointment. I am not terribly sure about how I feel with this stuff. I am going to have my T cell function checked. There is a distinct possibility that I could actually have a SCID variant rather than CVID. Wouldn't that be interesting?

Importantly, though, is the information this gives me and the genetic testing possibilities for my siblings and cousins. There is the chance that they could pass such a dysfunction on to their children. We'll have to trace it up and out to figure that out, but it certainly concerns me for my future children. It's a tough thing to learn, but would be a good thing to know.