Finding the Family Connection

When my daughter was first diagnosed with systemic juvenile arthritis, my husband and I spent a great deal of time trying to figure out where it came from. We weren’t the only ones either. Both sets of Caitlin’s grandparents, her aunts, her great-grandmother, cousins and even our friends were all in on the sleuthing as well. And I’m not speaking about finding the “cause”…. Because that’s another novella and we spent a good chunk of time on that too. For some families, tracing the disease is, unfortunately, as clear as the branches on their family tree. For us, that wasn’t the case. We knew that scientists believed there was probably some family history and a “genetic predisposition” for such a disease, and then some “trigger” flipped the disease switch to “on”. So it became somehow critical to find the connection. Who in our families had experience with RA or auto-immune disease?

We quizzed family here and abroad, calling on relatives we had not seen in years. What was it that Kelly had as a child? Did they ever name it? But she got over it so fast… I think that was rheumatic fever or something….How about that aunt? Did she have lupus? I know my grandfather had psoriasis, and I did too as a kid….. Does that count?

It seemed so important to us to make a connection, that I went so far as to contact my biological father – a man whose name I wore until marriage, but had never met, spoken to, or heard from in any fashion at all. He knew I existed, but kids didn’t fit into his plans as a 23 year old – so he moved across the country away from my pregnant mother, got a PHD, a wife and soon two more kids. At 31 years old with a 3 year old daughter myself, I had pretty much stopped being curious about that man, or wanting anything from him. But my quest for answers led me to contact him to ask for one thing only, and surprisingly, he responded with a thorough, type-written medical history of that side of my biology. The good news is that apparently, all the women in that family live to ripe old ages! But it was a dead end in terms of our tracing the RA…. virtually no auto-immune disease in the history. No cancer either – so that’s a plus. (It was a side story – but I’ve never been in contact with him again – some things, you don’t need to meet a person to figure out).

After we traced the branches of the family tree out to the smallest twigs, we were stumped. We could not find anybody with RA or one of the more common forms of auto-immune diseases that fall under the arthritis umbrella. (There was lots of OA for sure – but sadly, it would seem many people have that in their family). Eventually, the investigation slipped farther and farther down our priority list, as we became more concerned with researching medications, therapies and clinical trials. And then one day, when somebody asked that question again “Who had it in your family?”… It sort of didn’t matter anymore. Even if we could have found the lid for Pandora’s box, it’s not like we could have shoved JIA back in! I think we had been hoping for a story already written that had a very happy ending – but we didn’t find it and moved on to hopefully write our own. Looking back to trace the path to the point of onset did us no good towards forging the best path into the future.

With that being said, even though we have stopped that personal quest, I am very glad for the research being done on genetics in RA. There was a very interesting article in Arthritis Today last month about a family’s experience with HLA (human leukocyte antigen) testing. A mother and two daughters all were positive for the marker, which indicates five times the probability of developing RA. But as one of the daughters without any disease onset learned, there are still so many questions unanswered – other triggers that are just being uncovered – even being positive for that marker does not mean RA is definitely coming into her life. Having a mother with RA does not necessarily mean you will too. Having one child with RA does not mean they all will – though that’s possible too.

I think there is great promise in this area of genetic research for the future. Just as the BRCA gene is offering promise in breast cancer pre-determination, someday there may be similar tests for RA. Someday, we’ll be able to redirect those genes to cause no harm, or avoid those triggers that send the avalanche of RA in. In answer to the question about whether a family member’s disease means you will inherit the same, Dr. Klippel, President and CEO of the AF said this: “Genetics are an important piece to the puzzle of what causes RA, but as best we understand the disease there are other – yet unidentified – things involved… Identifying and learning about these genes is an area of great research interest by the Arthritis Foundation and others, and progress is being made daily. It is quite likely that more than one gene is associated with the disease and, in fact, combinations of genes likely have to fall in place before RA actually develops. This would help explain why not everyone in a family known to have someone with RA gets the disease. Moreover, it is believed that there are likely different genes which might determine whether someone is prone to get the disease, when it might begin, how severe it will be, and how it will respond to treatment. If we stay focused on research in this area, we’ll someday know about the genes and will be able to use this information in physician offices to prevent, better treat, and hopefully cure the disease.”

Prevent, better treat and cure. Amen to that!

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