Thursday, March 24, 2011

FXS Carriers

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After some debating in my head, I've decided to go ahead and post something this is not directly related to Ayden, but does pertain to me and multiple family members of mine as well.

See, my family carrries the FXS mutation.  As far as I know, it goes back to my Paternal Grandmother's family, most likely her mother was a carrier as well.  It can get mildly complicated, but here's a graph that kind of shows how it is moving through our family.  (for privacy issues, I didn't use any names, but Ayden is over there on the left with the (FX-M) notation.)

The first thing I think when I see that is how many carriers there are within my group of cousins. Being a carrier wasn't as big of a deal ten years ago when my dad was diagnosed. So much of the research now is showing there are multiple health issues that can arise from being a carrier though!

First, there is FXPOI. Fragile X Associated Primary Ovarian Insuffiency. Scary words, right? 20-28% of women that are Fragile X carriers experience this. Infertility, early menopause (we're talking prior to age 40), and/or decreased ovarian reserve.

Second, there is FXTAS. Fragile X-associated tremor ataxia syndrome. FXTAS is characterized by a progressive intention tremor, ataxia, cognitive decline, and generalized brain atrophy. For females, the symptoms consist of seizure disorders, thyroid disorders, and fibromylasia. It's much worse in males..termors, parkinsons-like shaking, balance problems, cognitive/intellectual declines, hand/feet numbness, loss of bowel control, low blood pressure, impotence... Keep in mind, this only affects carriers.
The two health issues listed above have been researched quite a bit. As Fragile X is fairly new, scientists and doctors have a lot to learn. Between when my dad was tested and I was tested I think was almost ten years. From when I was tested to when Ayden was tested was another 4 or 5 years. I'm quite serious when I say that between just those three tests in my family, the research has changed quite a bit. I don't want to even hit highlights because I'm afraid that some of the information that is no longer relevant will cause confusion, so I'll just leave it at that.

I have the honor of being included in a couple different FXS groups (including one on Facebook.) The groups are a mix of people with different types of FXS, but I find it amazing at how many individuals have the same type of health issues. I'm going to preface this next part with a disclaimer that these are my own inferrences (though shared by quite a few others in these groups) and not by any means medically proven yet. These are merely my observations from reading through a bunch of other peoples blogs, forum posts, and webpages.
  • There are a lot of Fragile X Carriers with Fibromyalsia. A lot. I'd never heard of it until my dad was diagnosed last year - so it caught my attention when it came up in these FXS groups. Later, I talked to my dad and found that he has three cousins that also have fibromyalsia. Those three cousins are probably all FXS Carriers as well. I don't really believe in coincidences.
  • Many carriers seem to have sensory issues including hand/foot tingling. 
  • I've noticed a growing amount of FXS children with Type 1 Diabetes - of those that I've seen mention this, I'd say about 80-90% were diagnosed before age 5. I don't have the numbers, because I wasn't looking for this specifically only happened to notice as my niece is affected so I tend to pay attention when I see T1 mentioned. 
  • It seems depression and anxiety are very high among carriers, especially those that are moms and even moreso of moms with FXS children. ((There is actually a study being conducted on this currently)) 
So, there is my take on FXS Carriers.  There is a lot of information out there on the National Fragile X Website about physical, cognitive, and social/emotional affects that you should read through if you are a carrier. Read through it.  Join the registry. Get tested. Be aware.  Not for me, but for you.  For your family.  Your children. Your grandchildren, siblings, cousins, nieces, nephews, their children, grandchildren....the list goes on and on.   Knowledge is power, and when it comes to FXS - more is definitely better.


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