Monday, February 29, 2016

I Am Rare Disease Day

Welcome to my blog if you are a first time visitor. I don't normally advertise my posts on Facebook or anything, but this post is important to me. If you look back at old posts, you will find mostly my day to day life, random DIY projects, a little about what is important to me, and probably a bunch of typos and poor editing since I rarely have time to write, let alone go back and proofread.

In July, I got a phone call from Bubby's pediatrician that he had one of the tests from his newborn screen come back abnormal. We did a retest, another test to confirm, and some more tests to check his levels on certain things. Eventually, I got a call confirming that my newborn has Fabry Disease and our genetic variant is A143T. I say "our" because shortly after, CJ and I (Mrs. Neuby) were also diagnosed with Fabry (pronounced fah-bray).

Fabry disease is an x-linked genetic condition that can eventually lead to cardiac and kidney problems along with neuropathy and a whole host of other symptoms early in life due to a decrease in or complete lack of a certain enzyme. It is a disease that kills people early if not treated. There is a lot of good news though:

  • We know that we have it. 
  • There is a treatment. (Though it would involve going to a hospital, being hooked to an IV and being given an infusion for several hours possibly weekly, and the side effects aren't great.)
  • We may have a form that is later onset. I have gone 26 years without treatment, but the key test results say that my kidneys are fine. (It affects males more seriously than females, but females are not just carriers.)

I wish, pray, and long for the day when more is known about our form of Fabry.  They have started testing newborns in Missouri for a couple years and in Illinois for about the extent of Bubby's lifespan. By testing newborns, they can go back and test the parents and grandparents of diagnosed newborns and learn more about the specific variants based off their history. For example, Bubby and CJ are diagnosed. They can look at my history and find that I have some already diagnosed cardiac issues as well as Raynaud's disease which are both associated with Fabry. Then if I can convince my parents to get tested, they might realize that my dad's stroke, heart disease, ringing in his ears, carpal tunnel, and other sytreatmentse all caused by Fabry disease. Or if my mom were the one to pass on the Fabry Gene, then we might find out that it doesn't appear to have major issues at all.  By using that information, geneticists are able to decide when or if treatment will be necessary for my boys, my parents, and myself. Then we could also better determine if siblings, cousins, aunts, and uncles need tested. Unfortunately, I still haven't been able to convince my parents to get tested so we really haven't gotten anywhere. My dad did ask his cardiologist about getting tested, but despite the obvious facts and diagnosed genetic offspring saying he could be a carrier, he said, "I don't think you have that."

The problem is that Fabry disease is a RARE disease. CJ and Bubby are the only patients ever to have it in our pediatricians office. I am the only patient my doctor has seen with it. They both had to go look up what Fabry disease is because it is just one page on their medical school textbooks. One question on the boards. Most likely my dad's cardiologist has never had a patient with it (that he knows of). As a family with Fabry, we will have to advocate for ourselves.

My hope is that they will one day find a better treatment, but more importantly, I hope they find out about A143T before it is too late. From talking with those in the Fabry community, I have learned that this disease can progress to make life miserable for people. There are Fabry patients all over waiting for kidney transplants. There are patients dying because despite treatments and medical advances, it just wasn't enough. I have also learned that A143T Fabry seems like the better variant to be diagnosed with because it might end up being nothing at all which is the hope that I will hang on to.

At this point our future just involves yearly testing and visits to the geneticist.  The only thing we can do is try out best to minimize other risk factors be eating healthy, exercising, and not taking up smoking.  Knowing that we are fighting an uphill battle with our health is one of the reasons why I was inspired to stay making other changes in what we are using in our house and on our bodies. Hopefully, I will have time to write a post about that before the end of the day. Be on the lookout for part two!