The Spousal Caregiver: Diagnosis Rare Disease

Your spouse has just been diagnosed with a rare genetic illness that you’ve never heard of. Your reaction might well be a mix of shock and panic, as your mind starts racing wildly and you feel that life as you have known it is coming to an abrupt halt.

Or, as in the case when my husband was diagnosed with FXTAS in 2004, we were both actually relieved, because it took five harrowing years to learn the reason for his strange physical and mental symptoms; at least now the mystery had a name.

Once you know what you are dealing with, you should educate yourself about the illness. Knowledge about the illness will make you more confident about caregiving. We are so lucky to have the Internet, which gives us instant access to copious resources (remember the movie Lorenzo’s Oil, where the parents had to go to libraries to research their son’s strange illness?). After my husband’s diagnosis, I googled FXTAS and found the first scientific paper which had recently been published, announcing the new discovery of this genetic condition.

I contacted the authors (who are at U.C. Davis in California; we are on the East Coast), and they have been accessible over the years by phone and email to give me whatever knowledge they were accruing on treatments for the illness. I also set up a “Google Alert,” so that Google would email me whenever it found anything on the Internet mentioning FXTAS. I read research abstracts online, and contacted the authors to obtain the entire papers, which they kindly sent me.

In the case of a rare illness, you may not be able to find local doctors who are knowledgeable about it. In that case, you need to educate the doctors. I gave my husband’s doctors the contact information for the doctors at U.C. Davis, and I printed out papers on FXTAS for them to read. When I read in one paper that men with FXTAS should have their testosterone levels tested, I showed it to our primary care doctor—he did the test, and sure enough, my husband was in need of testosterone injections to keep his bones and muscles from atrophying. You may have to try another doctor, and another … until you find one who has enough interest in the illness to give it the proper attention; we have seen many doctors who, sadly, were not interested, because my husband was their only patient with FXTAS.

Most diseases, no matter how rare, will have some kind of central organization(s) which you can find on the Internet. They can help direct you to appropriate doctors in your area and offer suggestions and contacts to help you manage the illness. These organizations can possibly put you in touch with others who have the same illness, and recommend support groups—either local, face-to-face groups or online—where you can connect with others. Finding other people in your situation is immensely comforting and helpful.

Now, I’m not suggesting that right after receiving a diagnosis, you should start madly searching for every bit of information on the illness, although you may want to. These are things to do over time—in your own time. It’s not possible to instantly absorb the diagnosis of a life-changing illness and deal with all of its implications at the outset.

As a caregiver with a long road ahead, you should try not to get into states of panic or expect the impossible from yourself. A chronic, and possibly degenerative, genetic illness will slow life down considerably for you and your ill spouse; if you, as a caregiver, can learn to slow down and go at your own speed, you will be able to think more clearly and accomplish more. And instead of worrying too much about the unknown future with the illness, try to live in the present, enjoying what you can of every day. With reasonable diligence, the answers you need should present themselves at the right times.

Terri Corcoran lives in Falls Church, Virginia, and has been a full-time caregiver for her husband Vince since 2004. Vince is severely disabled physically and mentally by the genetic condition Fragile X-Associated Tremor Ataxia Syndrome (FXTAS). Terri is on the Board of Directors of the Well Spouse® Association, which offers support and resources for spousal caregivers. She also serves as the association’s PR chairperson and the editor of their quarterly newsletter, Mainstay. She has published articles, and has been interviewed for magazine articles and on radio shows about FXTAS and the unique challenges of spousal caregiving. Although not formally trained in caregiving, Terri has, by necessity, become well-educated in the trials of spousal/family caregivers.