MDA Mailbag Winter 2011

by Quest Staff on January 1, 2011 - 1:26pm

QUEST Vol. 18, No. 1

Letters to Quest: FSHD research progress * Still seeking justice * Workers’ compensation reduced due to pre-existing neuromuscular disease * Jerry Lewis and the MDA Telethon * Learning about myotonia congenita * SMA stakeholders want to help speed up research process * Living with challenges of central core disease

A long road in FSHD research

Re: Two genetic changes needed to cause FSHD, Research Updates, Quest, vol. 17, no. 4, October-December 2010: I would like to let Quest readers know that from 1999 to 2004, MDA funded our pioneer research studies following our discovery of the DUX4 gene within the D4Z4 element that is repeated at the FSHD chromosome locus. At the time, most researchers did not expect a gene to occur within repeated DNA elements, as evidenced by the fact these were dubbed “junk DNA.”

In 1999, we characterized the DUX4 gene based on DNA sequences previously determined by Jane Hewitt (UK). Our further studies with collaborators from France (Dalila Laoudj), Argentina (Alberto Rosa) and the United States (Yi Wen Chen and Michael Kyba) showed that the DUX4 gene produced a toxic protein in patient muscle cells but not in healthy persons. In 2007, we identified an unexpected characteristic of the DUX4 gene that we proposed was necessary to express the protein and thus cause FSHD. We also discussed that lack of this characteristic would explain why neither chromosome 10 that harbors similar repeated elements with the DUX4 gene, nor some chromosome 4 variants, could cause FSHD.

Our model for FSHD has now been confirmed by precise DNA analysis of a large group of affected and nonaffected individuals by an international consortium of eight laboratories led by Silvere van der Maarel.

Let me thank again the MDA for its support during those years of painstaking research where technical difficulties and other researchers’ skepticism didn’t make life easy for DUX4!

Alexandra Belayew, Ph.D.
University of Mons
Mons, Belgium

Keep fighting injustice

Re: Justice denied due to MD, October-December 2010: First off, I’d like to say how sorry I am to have heard about the circumstances involving your wife’s accident and case. I have FSHD (facioscapulohumeral MD) and was rear-ended more than seven years ago. I was at a stop sign and a young woman driving a pickup truck hit my 1998 Mazda 626 from behind, going approximately 35 mph. I had newfound pain and body aches for several months after the wreck.

I hired a personal injury attorney right away. I already was seeing a chiropractor, so he was instrumental in helping to separate my MD from the new injury. I will say that when the attorney took the case, he told me that my pre-existing condition made my case more attractive. It took about a year before the case was settled to my satisfaction.

I want to encourage people to seek out justice when they feel they have been wronged or injured due to someone else’s negligence. Some experiences may differ, but we are all fighters.

James Kelley
Cincinnati, Ohio

More ‘justice denied’

I read the letter in the October-December 2010 issue of Quest by Ron Diamond (Justice denied due to MD). I know the feeling too well. I got hurt at work and was on workers's compensation. I already was disabled in one arm and hurt the only good one I had. My comp benefits were cut and now the settlement for the permanent disability will be about $24,000 after attorney’s fees. Comp was cut down because the insurance carrier’s lawyer brought up at the labor hearing that it was not their fault that I had OPMD (oculopharyngeal MD).

I now live with the pain in the left arm and the pain to the cervical spine. This is a great injustice as I was capable of working prior to the fall. (By the way, [the accident] was caused by inadequate handicapped parking.)

Noella Martin
Pembroke, N.H.

Jerry tells it like it is

I have been meaning to write a letter for quite a while now addressed to those who continue to complain about Jerry Lewis. I was very happy to read what Mark Plocharczyk wrote in the "Shock Me" section of Verbatim in the July issue of New Mobility as I agree with him.

You have to "get real" with people if you want to raise awareness and in turn raise money to support those who are in need, as well as fund the research that will one day find a cure — not only for the more than 40 neuromuscular diseases supported by MDA, but also other diseases the research findings will benefit.

It is not a picnic to have a neuromuscular disease, or any other disease or disability for that matter. The profiles that are shown on the Telethon are true and tell it the way it is. Showing how real lives are affected is the only way people will ever even have an idea about what it is like. The profiles also show how individuals and families are living their lives in the most positive ways they can, against the odds and despite negative physical situations. To me, this is something to be proud of and respected, not pitied.

Those who call themselves Jerry's Orphans are the ones who are putting themselves down and drawing a negative light — not Jerry Lewis, or anyone involved with the Telethon, who continues to raise awareness and money that support all patients with muscular dystrophy, including those who complain. You are the ones who should be ashamed.

Amy Stevens
Spruce, Mich.
Limb-girdle muscular dystrophy

MC on YouTube

I have myotonia congenita and have shot an educational video about the condition that I have posted on YouTube. I did so after I visited and found that so many people with my condition suffered through years of misdiagnosis and years of mislabeling of their symptoms by friends and family members as behaviorally based.

Although the video has had some measure of exposure — more than 11,000 views — we are still trying to spread the word to as many people in as many countries as possible. If you will, please post a link to my video so more people can find out about it and more doctors will understand how to diagnose it. The link is (Note: YouTube registration required. Currently, this video is not available to the public.)

James Lyons
Atlanta, Ga.

Families want to speed SMA research

Re: NIH Convenes Meeting on SMA Treatment Development

Thank you for publishing the article regarding the NIH's October workshop focused on SMA. We in the SMA community are very encouraged by the stakeholders' show of interest and concern for speeding up the process.

Many SMA families are working diligently to raise funding for SMA research with the hopes of bringing a treatment to reality as soon as possible. I am writing to request more information regarding the results of the meeting so that these families, mine included, can share this information with potential donors. We know that a cure is possible, but we need solid information to educate the general public on what they can do to help. We would love to know [whether] any goals were set for 2011, did the stakeholders walk away with a plan of action, and what is it going to take financially to push these actions forward? What can we (families) do to aid in speeding up the process?


Letitia Kennedy
Secretary Stop SMA
Birmingham, Ala.

Editor’s note: Although no action plan has been released by NIH, there are many ways interested families can help speed SMA research. These include signing up to be MDA Advocates, and receiving updates and action alerts about pending SMA legislation; contacting their local MDA office and helping to raise research funds in their communities; and volunteering to participate in clinical trials or studies for which they are eligible. To learn about MDA’s latest SMA grant, see the Quest News Online article $1.4 Million MDA Grant Will Help Develop SMA Drug.

CCD can be very challenging

I was happy to see the extensive article on central core disease (CCD) (In Focus: Central Core Disease, April-June 2010). I have CCD, diagnosed through a muscle biopsy. I also have a novel mutation on the RYR1 gene.

I have searched the country without success for a physician who specializes in CCD or who is doing specific research on this rare disease. There are also no known support groups for just CCD patients. Since malignant hyperthermia is sometimes correlated with this disease, there is some interest in CCD among the doctors of the Malignant Hyperthermia Association of the United States, or MHAUS, and their website is helpful.

The literature out there unfortunately describes CCD as a relatively benign myopathy, which has not been my personal experience. I have progressed significantly over the last 20 years. I am 53 and spent 25 years in social services before having to retire due to this. I am considering developing a website for CCD patients and their families at some point in the future.

Linda B.
Rhode Island

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