I was going to write about something else for Fragile X Friday but I think it will save it for this weekend. Instead, I’m going to talk about something that is weighing in on me and it hasn’t really before: FXTAS. FXTAS commonly occurs in the grandfathers of the boy children who have fragile x syndrome. Well, that is how it started anyway. That is what triggered Dr. Hagerman to look into it a lot closer. Now we know that it’s not really gender specific. Women get it too.
Carriers of premutation (CGG) expansions of the fragile X gene are generally thought to be spared most of the problems associated with the full mutation; however, a newly identified neurological disorder, involving progressively <!– –> severe tremor and difficulty with walking and balance, appears to specifically affect some older premutation carriers, generally grandfathers of children with fragile X syndrome. Although this neurological disorder occurs by a completely separate mechanism from fragile X syndrome—and affects different individuals, it is caused by the same gene, and therefore opens a new portal for understanding how the fragile X gene works. from http://www.fragilex.org/html/fxtas.htm.
As Matthew gets older I can’t help but think about his future. Who will he live with? How long will Kevin and I be able to take care of him? What if when the time comes Lauren or Rachel can’t or won’t take him in and care for him. And niggling in the back of my conscious is, “What if I get FXTAS?”
Kevin is hell bent on dying before me. Not that he wants to. But he assumes he will. His family history is littered with cancer, heart disease and diabetes. And he smokes. The poor guy has tried to quit but his addiction is so strong. He has tried patches, gums, pills, cold turkey, prescriptions, etc. It never does the job. It sounds funny to say that he needs rehab but seriously…he needs rehab.
So suddenly my biggest fear is not only who will take care of Matthew but who will take care of me. I lived in orphanages and group homes and I can tell you right now that I ever get put in a home I would freak out!!!
FXTAS usually develops between the ages of 50-80. Symptoms that family members may notice, but often attribute to aging, include:
* “Intention” tremors — shaking that often occurs when reaching for or pouring something
* Balance problems (ataxia) that cause falling or instability while walking
* Numbness in the extremities (neuropathy)
* Mood instability, irritability, and other changes in personality
* Short-term memory loss and gradual intellectual decline
Short-term memory loss and gradual intellectual decline. How scary is that? I watch my great-grandma die of Alzheimer’s. Towards the end she thought she was the little German girl she was in her childhood. She couldn’t care for herself at all. One minute I remember her cooking like crazy in her kitchen and the next she was in a room playing with dolls and speaking in a language I couldn’t understand.
There are many carrier mom’s out there who are not only taking care of their fragile x children but they are also taking care of their FXTAS parent. Stress doesn’t even begin to cover it. I don’t want to put that on my children. No parent does. So all I can do is hope for a cure, like so many other people out there who is struggling with this.