Letters to Quest: Two MDA Pen Pals become close friends * Encouraging thoughts from Ms. Wheelchair Ohio * Caregivers are true heroes * Perseverance pays off in life
Thanks to Pen Pals
I have had CMT all my life. A couple years ago, I e-mailed a woman from Quest’s Pen Pals section. She is close to my age and also has CMT. We began our friendship very cautiously [but] in a very short time realized that we were just two women with the same disease, with children, grandchildren and full lives of our own. In no time, we were calling each other instead of e-mailing. She is going to try to visit in the spring. She’s in New Jersey and I am in Texas. We both feel like we are lifelong friends, and it all started with her writing to Pen Pals. I wanted to let you know how much I appreciated this opportunity to make a real friend.
Always grateful for camp
My nephew Deyerle went to camp every year from the age of 5, and he loved going. He always came home with lots of great stories about things they did. He would start planning what to take to camp the following year on the day he got back from camp. If you are worried that your child won’t be taken care of, please remember that these volunteers and workers from MDA treat these children as if they were made of GOLD. The counselors sometimes become an extended family to the child. They love these children and are as affected as the family when they lose a child to their illness. Thank you again to everyone who helped make Deyerle’s years at camp wonderful. Please remember that no matter how long he has been gone, we will always remember and love you all.
"Aunt" Cindy Stewart
Focus on CCD
My 5-year-old son Elijah was diagnosed with central core disease (CCD) when he was 3. Thanks to the specialist overseeing his care, our family has a terrific understanding of where we are now. My hope is to connect with other families living with CCD. I was delighted by Kathleen McCook’s letter [January-March 2010]. I have no doubt that Elijah’s future is bright and full of endless opportunities and I look forward to sharing the Spring “In Focus” CCD report with our family. Thank you for all you do to support families like mine. Quest is a wonderful resource.
Julie M. Palmer
Editor's note: see the In Focus report on CCD in the Spring 2010 Quest.
Ms. Wheelchair Ohio
I am 49 years old and have type 2 spinal muscular atrophy. I have not let my disability stop me from living a normal life. Since the onset of my disability I have [won numerous awards, honors and adapted sports medals]. I have been married for 30 years and have served as the secretary/treasurer of a bowling league for people with disabilities for over 20 years. I also work out of my home. Recently, I won the title of Ms. Wheelchair Ohio, a division of the Ms. Wheelchair USA pageant. I will be going to the national pageant in July. Thanks to the Ms. Wheelchair USA program, I have the opportunity to share with others all that I have accomplished, as well as my platform: It’s important to have a positive attitude and a good outlook on life. I believe if you can imagine, you can achieve.
National Myositis Awareness Day
In 2006 the U.S. House of Representatives passed a resolution designating September 21 as National Myositis Awareness Day. For a number of years MDA has included inflammatory myopathies under its big umbrella of covered diseases, and I for one am very grateful for that step. As one of “Jerry’s Kids” at the ripe old age of 68, I am able to find support at MDA and access to their services. My site, www.myomusings.com, chronicles my journey with myositis, gives yearly updates and provides useful links to myositis-related sources.
My daughter, Natalya, died of Pompe disease more than 20 years ago, and back then no one knew much about it. We tried to do all that we could to save her. My daughter died when she was 9 months old. I miss my daughter so much and was so shocked to even hear about Pompe again [“Heroes, Hope and Hollywood,” Winter (January-March) 2010]. As I write this letter it takes me back to all the pain that I went through wishing for a cure. I’m so sorry that it didn’t happen in my daughter’s lifetime, but I’m happy that there is finally hope.
A ‘perfect person’
I just read “A Happy Compromise” [January-March 2010] and would like to commend Margaret A. Nosek on her independent lifestyle. I also have type 2 spinal muscular atrophy and live independently. [The article] has inspired me to write and say, “Yes, there are ‘Anne Sullivans.’“ At 18, I left home and moved into a long-term care facility. It was there that I met my “perfect person.” She was a volunteer and we became friends. She helped me find an accessible apartment and agreed to move in with me. Over the years I’ve had many hospitalizations and my physical requirements have increased. She was always by my side, unselfishly thinking of my needs first. It has been 30 years now that I have had complete independence in the community. Our society tends to just acknowledge a hero when he/she saves a person from near tragedy, but there is an unacknowledged hero: that extraordinary person who quietly dedicates themselves each day to the life and well-being of another. I am the happy living proof that a “perfect person” does exist, and she is still with me. Her name is Ramona Watras.
My son Coby, who was born with DMD, is now a teenager – 13 years old. He’s wheelchair bound but active as can be in cyberworld, running and jumping around on his XBox video games.
I am writing you because I am about to complete a journey of developing a physical therapy device for kids like my son who are in the constant fight against contractures in their legs due to neuromuscular diseases. About eight years ago we began developing a stretching routine with our son to help maintain flexibility in his legs and Achilles tendon. As Coby grew older the stretching became increasingly more challenging physically and emotionally for our son and even ourselves as parents. The use of night splints became a constant battle and day-use AFO's became a part of his life. Due to the potential expense and burden on the family to pay for weekly physical therapy sessions, the stretching regiment became the duty of my wife and me — mostly my wife.
The physical demands of stretching our son and the discomfort it caused to my son seemed to be a losing battle to the contractions. Information about possible heel cord surgery in the future was not what we had in mind for our young child. As an architect, my profession is to identify a need and or a problem and then produce a design solution in the form of a product, typically building or a portion thereof. When it came to our challenges with stretching our son, I looked to Google to find an answer. After an exhausted search for several weeks I also met with the Kaiser Permanente physical therapist and the MDA San Francisco physical therapist who both said there really was not anything available to assist with stretching. Pilates and martial arts stretching devices just do not meet the specific needs of a child with a neuromuscular disease.
With the help of my son with his constant feedback, we together created a device that without a doubt helps children and families assist with their stretching routines. It has been over five years in development, a long road through United States Patenting Office, and a lot of risky expenses to have finally produced the "CobyStretcher" and [it’s] ready for sale. Over the past five years of development, we have had nothing but positive feedback from kids with DMD, parents, pediatric neurologists, orthopedists, and physical therapists and the staff/physicians at the MDA San Francisco Medical Center.
We have just completed our Web site for the CobyStretcher device. Please review the product and learn more about how the product works through the Web site, www.CobyStretcher.com.
Never give up!
It is easy to tell others to never give up. Let me tell you my life story; if I can help or motivate even one soul, I will feel blessed with no regrets for anything.
I was born in India in 1972. When I was two years old, I got a lung infection and was given the wrong medicine for a long time, which had a very bad effect on my health. In 1983, I was diagnosed with spinal muscular atrophy; [and] in 1988 I broke my leg in a car accident. I was bedridden for more than 6 months. During that time my muscles got weaker and my SMA got worse. In spite of these difficulties I received my B.Com (Bachelor of Commerce) and MBA from Punjabi University, a reputed university in India.
Nothing has ever been easy for me. I have foot drop in both of my feet. [While studying for my MBA] I wore special socks which caused slow blood circulation in both of my feet and hurt them. I would be in pain the whole day while at University because I had no choice. Even then I completed my MBA in two years. After my studies, I was not able to get a job because of my health. I refused to give up and decided to move to the United States. It was a big decision against heavy odds but my parents encouraged me.
I came to USA in 1998, with no support but with lot of hope, confidence and determination. I started my first job at $20,000 a year. I support my mom and dad (both of whom are cancer patients) and myself – I am an only child. I look after them and they help me. I [even] learned to drive a hand-controlled car.
To improve my qualifications for a better career I completed my CIA (Certified Internal Auditor) and CRA (Certified Risk Analyst) certifications, in addition to [maintaining] my full-time job and [in spite of] my health issues. I also have served as president of my local chapter of the Institute for Internal Auditors and an advisor for the Internal Audit Council of Financial Managers Society. Currently, I am serving on the Board of Governors for the IIA chapter.
Though there are laws against discrimination, my experience is that people with physical handicaps are treated at discount than others and handicaps greatly affect the progress of life. People with less qualifications, experience and junior in status have been promoted; whereas, I am still at same job grade for the last six years in spite of my higher education, professional experience and better work performance.
Ever since I was first diagnosed, my weakness has greatly increased. I [am unable to do] many things that I loved to do; however, I am determined to do things others think I cannot. I cannot climb stairs, pick things up from floor, sit on a chair or stand up without support; however, I still go to work every day and do much more than I am told. I have never used my health as an excuse and I do not like it if people give me special treatment or show mercy because of my health. The harder the difficulties, the more determined I am to struggle for my career and my rights.
I still cannot afford a home yet. I do not know if I will be able to fulfill my dreams of home and family, but I am determined to try my best and never give up.
I suggest that everyone, no matter what happens, never ever give up.
I just recently released a film about Canadian boxing legend, Art Hafey. Among the many intriguing aspects of his career, Art is one of the few (possibly only) people diagnosed with myotonia congenita (MC) to reach the world-class level of any sport, let alone the brutal sport of boxing. Considered one of the hardest punchers of all time, Art was the number one-rated featherweight in the world in the mid-70s, but he didn’t receive a shot at the title due to corruption within the industry.
Brad Little, "Toy Tiger" director
Winnipeg, Manitoba, Canada
[Editor’s note: Watch for a profile of Art Hafey in the summer 2010 issue of Quest. For more on the movie, visit www.toytigermovie.com.]
My beloved caregiver
I have cerebellar ataxia and have been married to my beloved caregiver for nearly 50 years, 32 years of which I have had [the disease]. I have had a personal care assistant one day per week for the past 10 years because of financial reasons. The rest of the week I take sponge baths, and that works for me. Of course, you must understand that only in the last three years I have been unable to walk and am resigned to a wheelchair, but it works for us.
“Heroes, Hope and Hollywood” (January-March 2010) incorrectly stated that John Crowley’s former biotech firm, Novazyme, developed the technology that led to the Pompe drug Myozyme. Although Novazyme was bought by Genzyme, which later developed Myozyme, Genzyme says the drug is not based on Novazyme’s technology. For more on the development of Myozyme, see "Rescued Lives” in the January-March 2009 Quest.