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'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 journal—it 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.