Life with FXTAS: Supporting a Spouse with Fragile X-Associated Tremor Ataxia Syndrome

By Terri Corcoran

I call myself the “bride of FXTAS.”   When I married my husband Vince in 1999, little did I know that he was becoming afflicted by a genetic neurodegenerative condition called Fragile X-Associated Tremor Ataxia Syndrome (FXTAS).  A month after our wedding, Vince took his first unexplained fall while playing golf; as time went on, he would fall when exerting himself, but the reason for it was never clear.  As early as a few years BEFORE our wedding, Vince’s mind was exhibiting deficits in planning, memory, and behavior control; however, these incidences were too few and far between to raise red flags, and it was not until years later that I could see he had been in the beginning stages of FXTAS’s cognitive deterioration.

FXTAS was not identified by researchers (at U.C. Davis in California) until 2001.  It was found to be related to Fragile X Syndrome (FXS), the most common inheritable form of mental impairment, which was identified around 1990.  FXS and FXTAS are caused by too many repetitions of the CGG gene on the X-chromosome.  This gene is responsible for the production of FMRP protein which is needed for brain function.  In FXS, there are over 200 repetitions of the gene; this disrupts the production of FMRP protein, causing various forms of mental/behavioral impairment from birth.  In FXTAS, there are between  55 and 200 repetitions of the gene; in this case, FMRP protein is produced, but in a toxic way which may bring on the destruction of neurons in the brain later in life.  Before FXTAS, my husband was a Ph.D. electrical engineer who built lasers; he was brilliant in every way, interested in practically everything, and was physically very strong.

FXS is considered to be a full mutation of the CGG gene; FXTAS is called a premutation.  Not all carriers of this premutation develop FXTAS, but the chance of developing symptoms increases with age.  My husband started having problems by around age 63.  As his balance and walking problems intensified in the first years of our marriage, we started seeing neurologists, none of whom could give a correct diagnosis or interpret the report of his brain MRIs, as no one knew FXTAS existed.  It took five years and five neurologists and batteries of tests until we found the neurologist who diagnosed Vince; he had just read the first article published on FXTAS and thought Vince’s MRI report fit the description.  He ordered a DNA blood test which definitively showed that Vince had FXTAS.  By this time it was the beginning of 2004.

Unhappily, the doctor who diagnosed Vince became very ill shortly afterwards, and had to stop practicing.  Since then, we have been to many different neurologists, none of whom seem to know much about FXTAS.  Right after Vince’s diagnosis, however, I found the first published paper online, and wrote to the authors/researchers.  They have worked with me, long-distance, ever since.  I sent them a sample of Vince’s blood and copies of his MRIs to use in their research; and they have given me advice as to different medications to try—our local doctors would write the prescriptions.  Over the years, I have read all the research papers I could find in order to better manage this monster of an illness.

As for our marriage, it was never “normal.”  Vince’s bouts of apathy and lethargy and irrational anger outbursts made me feel like he didn’t care about me; I had no clue for years that his cognition was impaired, so I often felt frightened and very, very upset.  He just was not the guy I thought I married; I felt strongly that the real “him” was in there somewhere, but I couldn’t find him.  I would try to talk to him, and he would stare blankly at the TV.  Meanwhile, I was assaulted by home repairs (I moved into his house which he had let fall into horrible disrepair), and found myself having to undo a lot of financial messes Vince had gotten himself into—his failing mind fell prey to scams and outright thieves who were draining the bank account before I caught on to what was happening.

By early 2004, Vince needed full-time care.  He would get up to run to the bathroom and fall down.  He did not understand that he needed to ask me to help him because he had no balance.  He could not be left alone in the house, because he no longer had any judgment or the ability to use the phone in an emergency.  There were countless times when I had to call neighbors or the rescue squad to get him off the floor.  The years were full of heartbreaking losses of Vince’s physical and mental abilities, and full of adjustments needing to be made to the house and to our life (stair lifts, wheelchair, walkers, outside ramp, adjustable bed, power recliner).  Total incontinence set in also, so adult diapers and baby wipes became a large part of our life.

Medicare provided physical therapists and speech therapists for a while, until it was realized that Vince could no longer improve (he gradually stopped talking for the most part, and could not actively participate in exercise).  I would try to get him to exercise and would give up in frustration because he would not do anything.  He started taking Namenda (an Alzheimer’s drug) around 2007, and for years he seemed to be stable, although very disabled by that point.

The next large decline came in 2011 when he started having trouble eating.  Most of his molars had been removed over the years because of decay, despite regular visits to the dentist and periodontist; and he would pocket the food in his cheek instead of swallowing (a common occurrence in people with neurological conditions).  I quickly learned that I had to puree his food; after lots of experimentation (including lots of failures) and the purchase of many sizes of blenders, I became relatively competent with this new endeavor, and Vince has done very well with his pureed diet.

Since 2005, we have employed home health aides, adding hours as needed; for many years, we have had two strong, male aides—one for 6-7 hours during the day, and one for 4 hours in the evening.  At this point in July 2013, Vince is still amazingly strong and in good general health—no health issues besides the brain impairment of FXTAS.  (I give him low-dose testosterone shots twice monthly which keep his bones and muscles healthy.)  He cannot dress or feed himself; our aide showers him in the mornings.  I try to give him a healthy diet, as well as supplements like CO-Q10 and multivitamins.

Not every part of Vince’s brain has been affected by FXTAS, although he can no longer do anything for himself, because he has very little messaging from the brain to the other parts of his body.  He rarely speaks, but I know that he understands what is said to him, and I can sometimes get a “yes” or “no” response from him by asking him to signal me by tapping my hand or opening his mouth, etc.  He can still walk a few steps on some days, with me and the aide and a walker holding him up and directing him how to move his feet.  He is very peaceful and seems totally content, watching TV all day, sleeping, looking at newspapers and magazines, or sometimes playing with put-together toys like large Legos.  I found a private therapist who comes to our house every three weeks to spend an hour working with Vince: stretching him, massaging him, trying to get Vince to throw and catch a large ball, and arm wrestling (Vince usually wins without his even looking like he’s trying—that’s how strong he still is).

FXTAS research has made huge strides: scientists are pinpointing what is happening on the molecular level to cause the toxicity, and have been able to reverse FXTAS symptoms in mice.  A cure for humans is not yet in sight, but it is being actively sought in many research institutions worldwide.

I’m grateful that Vince is happy and pain-free, and that I can give him the best life possible under the horribly challenging circumstances.  It has been dreadful for me, but I am gratified that I have kept Vince as healthy as possible.  I have found huge support in my faith and church and in the Well Spouse^® Association, a support organization uniquely for spousal caregivers (www.wellspouse.org).

We live one day at a time; FXTAS is very unpredictable from day to day—it’s a mix of better days and worse days.  Doctors tell me that death would likely result from aspiration pneumonia or another type of infection, if not from illnesses such as diabetes, high blood pressure, or heart disease (which Vince does not have).  Meanwhile, as difficult and heartbreaking as FXTAS is, every day with Vince is one less day without him.  Miraculously, we do still love each other very much; and, until a few months ago, Vince would tell me he loved me on the rare occasions when he would speak at all.

**Note: FXTAS was originally discovered in older men, but more and more women who carry the premutation are reporting symptoms and may experience premature ovarian insufficiency as well.  However, women have two X chromosomes, one of which is normal, so that may help override the ravages of FXTAS; premutation women do not seem to be developing dementia.

For information on FXTAS, visit www.fxtas.org.

Terri and Vince Corcoran live in Falls Church, VA.  Terri can be contacted at [email protected].