Every Rare Disease Puts Its Own Distinct Squeeze on a Family

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Friday, March 4, 2011

By Rebecca Prosino

In October 2007, my husband and I invited my mom and dad out for a glass of wine to share some wonderful news: We were pregnant! The baby would come in June.

That same day, Mom and Dad had gotten some news they also wanted to share with us. Then only 64, Dad had been experiencing a strange combination of symptoms — slurred speech, precipitous blood pressure drops, loss of balance — and had just received a devastating diagnosis. He has the rare disease Multiple System Atrophy, or MSA.

Feb. 28 is World Rare Disease Day. Those with rare diseases bear more than just the burden of the disease itself. A sense of isolation; the need to educate their caregivers, friends and even their physicians about the disease; the lack of research on "orphan diseases" (it is not profitable to understand them); unknowns about how the disease will progress in the individual; and a lack of equity in health care because of unusual and expensive treatments all add to the emotional toil of having a disease. Worst of all, most rare diseases do not have a cure. Such is the case with MSA, a neurodegenerative disorder caused by atrophy of the cerebellum.

It is extremely difficult to watch as my Dad slides back through developmental milestones that my daughter is progressing through so beautifully. Dad is now mostly wheelchair-bound and difficult to understand because of his slurred speech. How sad that he can't toss his 2-year-old granddaughter in the air!

But with the sadness of this disease, Dad also has found succor in a band of dedicated friends and family we call his communication circle. The faithful members of this group come to do speech and physical therapy exercises with Dad at least twice a week. In so doing, they lessen his isolation and fear and the burden of constant attention and socializing that rests on my mom while slowing his disease process. Dad's speech and emotional state have improved dramatically as a result of this intervention.

Perhaps you know someone with a rare disease. How could you help build up the community around this person and perhaps address some of their unique needs?

Every rare disease puts its own distinct squeeze on a family. But with education and community, rare diseases can provide those people who are struggling with them new insights into caring, faith and hope.

Rebecca Prosino lives in Shreveport.

 

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