MDA Mailbag Winter 2009

by Quest Staff on January 1, 2009 - 11:40am

QUEST Vol. 16, No. 1

Letters to Quest: Filmmaker seeks people with MC ** No help for single parents ** Choose to know genetic diagnosis ** PLS Awareness Month.

Filmmaker seeks people with MC

I am a filmmaker trying to put together a documentary about myotonia congenita (MC), which I have, as do many others found through the Myotonia Congenita Project’s Web site. At this time, we’re trying to get in touch with anyone diagnosed with MC in an effort to find the right candidates for the film. If you or anyone you know might be interested, please contact me.

James Lyons
Atlanta, Ga.

No help for single parents

I am a single mom of two children. My son Chase, 12, has MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome.

Since 2004, when my son’s disease began progressing at a more rapid rate, I have felt I needed to stay home with him as long as permitted. But it has been devastating financially. It’s absurd how little actual help a child receives and how state and federal government workers “help.”

A waiver will pay a stranger to come to my home and take care of my son, but won’t pay me to be his caregiver. I’m extremely qualified to make good wages. But if there is no work, and the caregiving work I’ve been doing for the past 12 years is being given to someone else, where is the logic in that?

Why is it that when my son is 18, I can be his caregiver and allotted the funding for it, but not while he’s a child? We still need help with rent, electric, etc. I have exhausted resources in my community for help.

I know it’s hard on all families, but it just seems that single-parent families are forgotten about. I am faced with a consideration that devastates me to think about — to hospitalize my son. That not only devastates me, but it would him, and that’s a shame.

I hope … [for] programs or waivers or even laws that actually, truly benefit families and help single parents keep doing the right thing for their children.

Heather Mousel
Dalten, Ga.

Choose to know

I read the section on genetic diagnosis [“The Genie’s Out of the Bottle,” November-December 2008], in particular the article about the Eveloffs, whose son has a form of congenital muscular dystrophy (CMD). As a parent of a child with CMD, I understand the decision not to push for genetic testing and diagnosis when it doesn’t seem to matter. This was the stance my husband and I took as well: Live day to day. However, given my daughter’s precipitous decline in muscle strength three years ago, we could no longer afford to be by-standers. Her profound weakness was terrifying and fear is a powerful motivator.

The decision to pursue a diagnosis in CMD is not an easy one. Usually it means a diagnostic odyssey of multiple trips to multiple doctors, invasive testing and grappling with both inconclusive and positive results — knowing the diagnosis may neither help solidify an understanding of how long your child may live, nor offer a cure.

CMD is a rare disease. There are currently no treatments or cures. However, there has been an explosion in understanding in the last 10 years, with identification of new genes and categorization of subtypes. Having every individual push for disease confirmation and, where possible, a genetic diagnosis [will help] boost understanding of what CMD is, how it should be treated and how to improve diagnosis. It is important that individuals with CMD work with their neurologist and/or genetic counselor to find a genetic confirmation of disease. Knowing the genetic diagnosis will help connect an individual with CMD to future trials. Connecting people with CMD with known genetic mutations to future trials is the goal of a CMD international registry.

Anne Rutkowski, M.D.
Los Angeles, Calif.

PLS Awareness Month

I am 41 years old and have primary lateral sclerosis (PLS). My symptoms started when I was 37 and the disease has been aggressive. I have gone from running upwards of 50 miles a week and competing in races to being confined to a wheelchair. I can’t walk or talk, I have difficulty eating and wear a neck brace to support my head.

I’m writing to let readers know about PLS Awareness Month in February 2009. Championed by Congressman Joe Baca of California, the PLS Awareness Month Act unanimously passed the House of Representatives on July 30, 2008, and will bring greater awareness to this disease.

Sarah Roberts-Witt
Raleigh, N.C.

Editor’s note: MDA covers PLS as associated with ALS (amyotrophic lateral sclerosis), not all forms of PLS.


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