Two Newlyweds Fight Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS)
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 golf—medics were called and could find nothing apparently wrong with Henry. It took over five years of worsening symptoms—including more frequent falls, difficulty walking, cognitive decline and incontinence—examinations 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'sdrugs, 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 neuropathyin 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.
*Names have been changed to maintain privacy.
