The MDA Quest Newsletter is reaching out to adults with nonspecific diagnoses of muscular dystrophy or myopathy for a phone study held by New York University and funded by Genzyme Corp. If you are 18 years old and older and have an unconfirmed or unclassified diagnosis of LGMD, myotonic dystrophy, Emery-Dreifuss MD, oculopharyngeal MD, distal MD, facioscapulohumeral MD, polymyositis, hyperthyroid myopathy, hypothyroid myopathy, mitochondrial myopathy, or another unclassified myopathy please consider taking part in this study.

The basis of the study is to learn if adults with non-specific MD diagnosis may actually have late-onset Pompe disease, which has symptoms similar to the diagnosis listed above. Since late-onset Pompe disease can be treated with enzyme therapy, the earlier a diagnosis is made, the better. Genzyme Corp. has developed enzyme replacement therapies for Pompe disease.

You’ll begin with a phone interview and if accepted, (and with your consent) a blood sample will be requested.  A kit will be sent to your home so you can have the blood drawn at a lab close to you. There is no need for travel to New York City. You’ll also be asked to fill out a questionnaire, and provide medical records all at no cost to you.

If interested, please contact Edward Nunziato, research assistant in the Division of Neurogenetics at New York University School of Medicine at edward.nunziato@nyumc.org (preferred) or (212)263-5912.

For more information about this study, please see the article from the MDA Quest online.

June is almost over, but there’s still enough time to write my yearly post about Myasthenia Gravis Awareness Month. I’ve been living with MG for 7 years now. In the beginning it was so difficult that I really thought I would die. I can remember waking up at night being short of breath and thinking this would be my last moment on earth. In terror, I would hyperventilate making it worse.

That stopped thankfully and then I began to feel like my throat was closing up. At first my throat would feel numb. I don’t know how else to describe it. Then I’d feel like the opening in my throat was getting smaller. I’d be awake for hours afraid to close my eyes because I thought wouldn’t wake up.

This isn’t how the Myasthenia Gravis started. At first I felt like I couldn’t keep my right eye opened. No one could see it, but I felt it. It was annoying. Then I felt like I couldn’t move my body, like it was a dead weight. I was so tired. I remember standing in line to pick up my daughter from preschool when I was sure I would just fall right down there and sleep. I took all my might, my control to stay upright, to be able to move and talk. And then drive home.

I’d lie on the floor next to my daughter at home because I knew I’d fall asleep. At least I was close by her and would hear if something happened…I’d hope and pray.

Finally I went to the neurologist and he saw my eye drooping. It was the beginning of learning to live with this neuro-muscular disease, this chronic illness, that I take heavy duty prescription medications for, that I’ve had surgery that cracked open my breastbone, that allowed me to realize how blessed I am, how so many other people are worse off than I am and that made me the person I am today.

To learn about the symptoms of, the treatments for and the ways to cope with Myasthenia Gravis, visit the Myasthenia Gravis Association.

When you have a number of chronic illnesses you often feel that you’re always at the doctor, but keep your check up appointments. Don’t put them off because you’re feeling well. There’s a reason for these type of appointments. You’ll probably have some tests done and your doctor will do a quick exam.

I put off my check ups in particular one with my eye doctor. I thought I was doing fine. I got some bad news though which I’ll go into later when I feel better about dealing with it. So please take my word for it and see your doctor for your check up appointments.

April is almost done so before I forget I need to do my annual post about Sjogren’s Awareness Month.

Sjogren’s is pronounced SHOW-grins. It is a chronic autoimmune diseases which affects the moisture producing glands. It causes dry eyes and dry mouth, but has other symptoms that can be serious. The best place to learn about Sjogren’s Syndrome and how to live with it is the Sjogren’s Syndrome Foundation in my opinion. They also raise money for research and legislation to help people with Sjogren’s.

This illustration (from Sjogren’s Syndrome Foundation) portrays the many ways that Sjogren’s can affect your body:

Often when you have been diagnosed with Sjogren’s Syndrome, you have other connective tissue disorders also. That is the case with me.

There is no cure for Sjogren’s but there are many treatments available. Be sure to find a doctor that is your partner and treats you as a whole person since there are so many body symptoms that can be involved. Often a rheumatologist, an opthamologist and dentist are your primary doctors.

Please feel free to leave a comment about Sjogren’s Syndrome. I’m not a doctor, but I’m a person living with this disease.

This Is How I Roll, Living Independently With Neuromuscular Disease is a webinar held by the MDA on Thursday, March 25, 2010 at 6 PM EST. Hosted by Vance Taylor, Katrina Gossett and Angela Wrigglesworth, this webinar is geared toward people who want more information on living independently.

Event Address: https://mdaevents1.webex.com/mdaevents1/onstage/g.php?t=a&d=661483220

Event Password: MDAWebEx2010

Call-in number: 650-429-3300 (U.S./Canada) Long distance charges apply.

Suzanne Rogers, star of Days Of Our Lives, has Myasthenia Gravis. She has played Maggie Horton on the show for more than 20 years. Ms. Rogers has been a performer since she was a child, starting with dancing. She danced so well that she became one of the Rockets.

When her singing talent was discovered, she then became an actress, dancer and singer on Broadway and performed on the Ed Sullivan show. In 1973, she became Maggie Horton on Days of Our Lives when she decided that she wanted a full-time career. In 1984, she was diagnosed with Myasthenia Gravis and went through very debilitating symptoms.

Ms. Rogers wasn’t able to work for one year because of her extreme difficulty with speaking, double vision and problems with eating which caused her to lose a great deal of weight. After receiving the correct treatment including medication, she was able to return to work after going into remission. Her character has Myasthenia Gravis too, so she is able to share this condition with her fans and others.

She continues to inspire people by contacting other people with Myasthenia Gravis and is now the spokesperson for the Myasthenia Gravis Foundation.

Although remission is not the outcome for all people with Myasthenia Gravis, it helps me to see that it is possible. I commend Suzanne Rogers from Days Of Our Lives for speaking out about her condition when she could have hid it.