One caregiver's story
Reviewed by Melissa Conrad Stöppler, MD
My name is Marcia*, but sometimes I call myself the "bride of FXTAS." FXTAS stands for Fragile-X Associated Tremor/Ataxia Syndrome, the degenerative neurological disorder that attacked my 64-year-old husband Henry* a month after we were married in 1999. The first noticeable symptom was that Henry fell down while playing golfmedics were called and could find nothing apparently wrong with Henry. It took over five years of worsening symptomsincluding more frequent falls, difficulty walking, cognitive decline and incontinenceexaminations by five neurologists and many diagnostic tests before Henry was diagnosed with FXTAS.
For the seven-plus years of our marriage, I have been Henry's medical advocate, as his mind was failing, and his primary caregiver, since he gradually lost the ability to walk or do activities of daily living on his own. The journey to a diagnosis began when Doctor #1 suggested Henry might have Parkinson's because of his stiffness and falling; she did several tests and then just never returned our calls because she clearly didn't know what to say. Doctor #2 gave Henry two Parkinson's drugs, but they had no effect; his next guess was that Henry had some small strokes (per his MRIs) and he sent Henry to Doctor #3 for another opinion. Doc #3 said it was not strokes, but determined that Henry had a small amount of peripheral neuropathy in his legs; he just called the problems "old age" and prescribed physical therapy. Subsequently, after Henry had a bad fall resulting in a broken arm, we tried Doc #4, who couldn't diagnose Henry, so he called the condition multisystem atrophy, and prescribed more physical therapy. The therapist gave up on Henry since she couldn't figure out how to help him. She suggested we just get Henry a scooter to get around.
The scooter idea was out, because Henry didn't have the coordination to use one. I refused to give up and condemn Henry to life in a wheelchair until I got a correct diagnosis. His original brain MRI reports from Doc #1 mentioned some irregularities which I didn't understand and which the first four doctors didn't even address. Finally, we went to Doctor #5 at the end of 2003. He diagnosed Henry immediately because he had just read an article about FXTAS in a journalit had just been identified as a medical condition in 2001, so most doctors still didn't know anything about it. Doc #5 put Henry's MRI reports together with the article he read, and ordered a DNA test for Henry, which showed that he had a premutation (also termed a premutation expansion) of the FMR1 gene on the X chromosome, the gene that is defective in the condition known as Fragile X syndrome.
Henry's grandson has Fragile X syndrome. Fragile X syndrome is the leading cause of inherited mental retardation, involving a full mutation of the FMR1 gene, and results in a number of mental and physical developmental disabilities. Henry and his daughters are carriers of the faulty gene, which Henry inherited from his mother (fathers cannot pass it to sons, because they give sons the Y chromosome, not the X). Having the premutation and not the full mutation, Henry did not have any developmental problems growing upto the contrary, he was a brilliant PhD laser scientist and a very energetic, inventive person. FXTAS affects a large percentage of male premutation carriers, usually after age 50. Cures are being researched by doctors all over the world, but so far there is no remedy. What I have been doing with Henry is just managing the FXTAS. His general health is good, but at this point, he can walk only with two people holding him up and verbal coachinghe has no balance and very little coordination between mind and body (ataxia), so I need to constantly say to him "pick up your feet, walk, walk," etc. I try to keep his diet healthy, and I give him many supplements.
I had to stop working in 2004 to care for Henry full time, since he was falling too much to be left alone. I gradually added handicap accommodations to our house as his condition degeneratedgrab bars in bathrooms, wheelchair ramp into the house, stair lifts, and countless other modifications to get Henry around. I did exercises with him which I learned from physical therapists (Medicare pays for therapy intermittently, but not continually) and got speech therapists to try to work with his diminishing mental and verbal skills.
By mid-2005, I was burned out from the constant stress of caregiving and being completely responsible for everything in Henry's life as well as maintaining our house and finances. I began hiring home health aides, going through lots of incompetent help and incompetent agencies. At this point, at the beginning of 2007, I have 10 or 11 hours of help every day to get Henry showered, dressed, and moving around the little that he can. I finally have two steady male aides who have helped enormously, giving me the freedom to get out and do other things to keep me sane.
Henry's condition seems to have stabilized in the past year or so and hasn't gotten worse; but if he gets even the smallest fever, he can barely move or talk. Luckily, he is very accepting of his condition and never complains about his illness. I guess I'm keeping him comfortable! I, however, have suffered tremendously from the loss of my husband's former self. I've learned to believe in and depend on God, and He has faithfully brought me through every day and even has shown me blessings in this mess.
I hope that by reading this article, other men with FXTAS can get a diagnosis more expediently than did Henry. There are still plenty of health-care professionals who are not acquainted with FXTAS. Sadly, the doctor who diagnosed Henry became very ill shortly afterwardnow we are seeing one of his partners, who admits to not knowing much about FXTAS.
* Names have been changed