Click on one of the headings below to read the stories in our library written by patients who are particiating in the Registry. If you have a story that you would like to share then please get in touch.
As a baby I was very weak but I grew up fairly normally, albeit always under the normal weight until my twenties. When I was eleven I realised big deficiencies in sports and I was very slow at running and was under average in athletic sports, which led me to be badly teased by my classmates. I started to hate sports because it was always embarrassing for me. After sport lessons I found I always had intense muscle pain. When I was eighteen I discovered other sporting activities like cycling, mountain hiking, skiing and dancing. Neither my parents nor my doctors ever had the idea that there was something wrong with my muscles.
2. Twenties and Thirties
When I started university at 20 years old I was very skinny. My student home was on a hill and I had to climb about 70 steps to get to it. I had very bad muscle pain and was always slower than other people, but I never thought that my muscles were the problem. I knew I wasn’t very good at sports and I had already accepted this years ago but, now looking back, this was the first sign that my muscles were getting worse. During my time at University I was skiing, biking, swimming and mountain hiking as normal without deficiencies. However when I was 38 years old I found out that getting up after falling during skiing got more and more difficult. I avoided falling and if this happened I took off my skis, got up and then put the skis on to continue.
When I was forty I was working as a marketing manager and I was transferred to the USA. In my free time I enjoyed sports, including skiing in the winter time. Some years later I went on holiday and visited my brother in Germany, who was a general doctor. He told me that he had observed that I walked and climbed stairs a little differently. He did a thorough examination and recommended that I go and see a neurologist to check for muscular dystrophy. I was shocked. Back in the USA I underwent several tests, including a muscle biopsy. This was done when I was 43 and I was clinically diagnosed with Becker MD. This was done at the University of West Virginia by Professor Dr. Gutmann. He told me something which would be very important for me to remember in the future and it has since become part of my philosophy for life: “You've got to know what the heck is going on”. He also told me that Becker MD was progressive and that there was no cure or medication in sight. He also told me that some people have physical therapy but he was not convinced that this would slow the progression. He could not give me a prognosis and advised me just to continue life as before but did advise me to work out in order to get more muscles. I agreed with my family just to live as normally as possible and to make adjustments to life as needed.
Back in Germany I continued working as a marketing manager and was traveling a lot. In contrast to living in the USA I went to my office by bike which I enjoyed and was good exercise. My German neurologist recommended weekly physical therapy and after 15 years of not enjoying it very much I quit physical therapy because it wasn’t helping me. I also tried taking cortisone pills but that did not help either. I found out that living my own lifestyle was better than the advice of experts who had no real treatment proposals. I found out that the progression of the disease could not be stopped and even trying to slow it didn’t work either. I found that just continuing with my previous lifestyle was the best thing for me. I wanted to be independent but accepted help when necessary. At 55 years old it started getting more and more difficult climbing steps without handrails. I often asked other travelers to give me a hand or carry my briefcase when climbing up stairs to airplanes, factories, offices, buses, etc. I also started to fall more frequently. In most cases I did not hurt myself but I developed a technique that allowed me to get up with the help of just one person using physical lever laws. When I fell down the stairs in my house I decided to install double sided handrails. At 58 years old I could not cycle anymore and so I decided to get an electrically supported tricycle. The insurance refused to finance it as a therapy measure, which I sued them for and won. I learned how to fight for a target!
When my children entered the age of possible reproduction I decided to get more information about my genetic situation and I so approached a genetic doctor. After a genetic blood test I experienced a surprise - Becker MD was excluded but the obvious genetic defect was not detected. I then contacted Profs Voit and Straub at the University of Essen and they submitted blood and muscle samples to an international research group. After three years the FKRP gene was detected and I was one of the first patients to be diagnosed with a mutation in this affected gene. My whole family including my siblings and their children were tested. I was found to be the only one who was homozygous, some were heterozygous, and some had no FKRP gene defect at all. I followed the advice of Prof. Dr. Gutmann: “You've got to know what the heck in going on” and so I generated transparency as a way of avoiding unnecessary fear.
When I was 58 years old, due to my disabilities, traveling and performing my marketing job got very difficult and I decided to take advantage of early retirement which I enjoyed very much. I was still able to walk without aids but was falling and hurting my head more often. So at the end of my fifties I decided to lower this risk by using a light weight rollator (walking frame with wheels) which I could move in and out of my minivan by myself.
My muscles continued to get weaker and weaker. I used rollators on each floor in my house in order to prevent falling. When I fell head first downstairs even using double sided handrails I decided to install a stair lift. Even though it was very expensive, I managed to successfully avoid falling with these measures. Now when I fall, rare as it is, my wife is not able to help me up and so I have to call the ambulance and two strong professionals help me up. They are always surprised that they do not have to take me to the hospital.
My ability to rise from a chair is completely gone. I have an electrically lifting bed, chairs, toilet seat, and recliner. In order to get out of the car and a wheelchair, which I occasionally use for long distances, I use a self-made compressor and an inflatable set of five air cushions. If there is not an aid I need I will invent or develop it myself. This often happens because the market for special aids for muscular dystrophy patients is too small and so the number and quality of aids for muscular dystrophy is insufficient, e.g. there is not a small easy to carry chair lifting aid for use in restaurants, theaters or cinemas available. It is fun for me to overcome this with own inventions.
At this time I cannot walk one step without a rollator. The maximum distance I can walk at present using a rollator has decreased to 30m. It is not due to the failure of the leg muscles but the upper arm muscles, my back and stomach muscles are almost gone and my arms cannot hold my body in an upright position for a long time. However, my hands and feet are still strong and so I am able to safely drive a car, controlling it by my feet and hands. Sometimes people are surprised about this and I tell them that I control my car with hands and feet, which are strong, not with my butt, which is weak.
With age, other health problems have occurred: high blood pressure, minor heart and lung insufficiencies, Carpal Tunnel Syndrome, diabetes with insulin injection, hernia surgery, herniated disc surgery, gall bladder surgery, urinal incontinence. You name it I've got it.
In my mid-sixties I started to hate winter. Most body heat is generated by muscles and as my muscles are deteriorating I am always feeling the cold, even if rooms are well heated. Outside I cannot stand the cold and when there is snow or ice I cannot hold myself on my rollator and it is impossible for me to get out of a car. The effect of constantly feeling the cold has not been focused on much in MD research, in contrast to pain. Wearing warmer or thicker apparel does not help. I compare this phenomenon with a perfectly insulated home when the heating has stopped. After some time it will get cold even with optimal insulation. When the human body is insufficiently producing heat you will still feel the cold even if you wear thick pullovers. In winter time I regularly wake up during the night with ice cold feet even if I wear socks under a heavy winter blanket. A bag of heated cherry kernels gives some more hours of extra heat but after 3 hours this heat source is gone. I consider feeling the cold worse than pain since there is no treatment available.
After my wife retired we decided to buy a winter home in Florida which I equipped with all the necessary lifting aids. For me it is impossible to stay in a hotel because of the lack of lifting aids. In Germany I only know of two hotels with lifting beds, and only one hotel with a lifting toilet seat. Having a permanent home in a warm and sunny country with all the lifting equipment and a special car with (easy butt sliding) leather seats meets my special needs in an optimal way. In addition Florida with its elderly population is “handicapped wonderland”. Having 25⁰C weather in January is exactly what I need. Since housing prices went down to a third of the previous years, this investment was still affordable to us and it was the right move. We now live twice a year for 2.5 month a time in the sunshine state and really enjoy it, moving back to Germany in the Spring. As “German Snowbirds” we also enjoy the American Dream which is a special experience and challenge for us. Medical facilities are of a high quality and we are covered by good affordable German travel insurance.
Thanks to the support of my wife, family, and friends, and last but not least my doctors, I was able to master and enjoy life although having a severe disability. I was lucky since the impact of LGMD2I hit me relatively late and mildly. I know people with LGMD2I who are permanently in a wheelchair by the age of 30 years old, while I was able to ski up until my mid-forties. However, I think it is also a question of mind how to master the terrible fate of muscular dystrophy. This is my philosophy:
- “You've got to know what the heck is going on”
- A “this does not work” attitude doesn't work
- Necessity makes us inventive!
- Never give up
- Be optimistic
- Be independent as much as possible and ask for help when necessary
- Use disability aids as needed
- Enjoy life!
Published July 2014
As I breezed out of my physical with flying colors, I thought I would show the cute doctor my party trick that had been all the rage at the college parties I was attending. “See? My hip pops out of its socket. Isn’t that wild?” “Why don’t you come back in and let me see that again?” he asked, tilting his head to the left and then to the right.
Imagine my surprise when he told me he wanted to run more tests, that that was not normal and it definitely wasn’t just being double jointed like I proposed. One test led to another: from probes and blood work, to shocks and finally a muscle biopsy.
A new doctor, a neurologist, sat me down in his mahogany office and told me I had muscular dystrophy. Since he looked like he wanted to cry, I tried to cheer him up by lamenting that I had some stupid Jerry Lewis disease. It seemed to work a bit.
I asked what I needed to do - how I could fix this problem? I was offered no treatment, no suggestions, no research, not really anything. I was 18 years old so I changed majors to psychology (you can do that job in a wheelchair I reasoned), finished college and grad school, spent three months backpacking around nine countries in Europe, and just generally went along with my life. From time to time I would try and research what was going on, but nothing much was there. This new cool thing came out called the internet, and I occasionally would see things about it but really they never amounted to much.
So the years rolled on as years often do and it just got a tiny bit worse, a tiny bit worse, a tiny bit worse each year. It is not usually noticeable year to year, but every so often you are struck with the realization you can’t do something you could do not that long ago. That’s where it gets you. I liken it to wearing heavy skiing gear all the time every day. Everything is a bit harder and more cumbersome. Yes, I used to ski. I also used to rock climb and go white water rafting and lots of other things.
Now I am 46 years old. A few years ago I went to a conference in Iowa and learned about the Global FKRP Registry. Obviously I am very enthusiastic to know that such a thing exists because that means people are trying to track it, measure it, and do something with that data. I appreciate that because now this thing is really starting to affect me. I eyeball the distance to the front door before I get out of the car and muster the energy to walk the short distance to get inside. My choice of clothes is influenced because I cannot lift my arms over my head very well. Wait-this just in, correction, I cannot lift my arms over my head. That just happened.
A lot of things are happening. I also learned at the conference that I have contractures in my legs and that I don’t get enough oxygen when I sleep. Since oxygen is kind of important I just started using a BiPAP machine at night to help me breath. Well, I use it most nights (ok some nights). I know I should be more consistent, but it is a bit disheartening and a bit like Darth Vader and some nights that’s just too much to take in.
I got a scooter years ago for long distances at airports and for festivals. Now I use it to make it into the movie theater and find it is also helpful to avoid drunken people from knocking me over at bars. I’m using it more and more, and so it goes…
My current battle is the chair at my office. A very kind man made me a remote control barber chair contraption on which my husband put a chair and then a garbage can rolling base. It’s still not quite right. When it is low enough to work I can’t get up and when it is high enough to get off, my back is killing me from leaning over and I can’t reach my files. (Sigh) Well, a work in progress. I’ve got to make it work because dragging myself up my desk isn’t working anymore and even I have to get up once in a while for food, the powder room and of course to go home.
I wonder how long I can keep up working. While my job is mostly stationary, seated at a desk working, but just the effort of getting out of bed, getting showered and dressed, walking to the car, going up the sidewalk, riding the elevator and getting seated is really pretty tiring.
At times I have thoughts like “I am the Executive Director of a 1.5 million dollar agency I have built from the ground up and I can’t even carry a full cup of Starbucks across the room. I am literally having to stop and drink some of this coffee so I can finish carrying it across the room. Ridiculous!” I repeat this for many things (picking up my sunglasses that I have dropped, or opening a bottle of wine, putting my hair in a pony tail - well, you get the picture). I’m scared of where this is leading. What else will this disease take from me?
My plan is to take it day by day with an eye on the future. I mean, what else can you do?
My husband designed a cool, accessible pool that mimics the resorts we like to go in Mexico, complete with a swim up bar and a “Melissa Friendly” table in the pool. It’s getting harder to travel so this is us making the most of things. Just for fun I made a website for the pool-visit it and let me know what you think. It is www.playavistaresort.com.
As I think about the Global FKRP Registry, I think about how amazing it is to have a place where people like me can be counted, measure, and unified. For a quarter of a century I never even met anyone who had the same problem as me and now there is a Global Registry? That means many people are just like me, struggling with their disease, taking it a day at a time, trying to be patient until there is a cure or a treatment. Speaking on behalf of all of us, please don’t hesitate to ask questions or tell us what we can do to move this thing along. One more thing; we thank you for what you are doing and please keep up the good work. We need you.
Published September 2014
Biography of Melissa Grove:
Melissa Grove M.S., LPC resides in the USA and has served as Executive Director of Legacy Counseling Center, Inc. since 1999, transforming the agency into the largest provider of mental health services for HIV+ people in the South of the USA. Previously, she had developed the agency’s Legacy Founders Cottage, a facility designed for terminally ill AIDS patients. A licensed therapist, Ms. Grove served as the Gero-psychiatric Director for ADAPT of Texas, managing a 60 bed in-patient facility. Other experiences include working with individuals with Schizophrenia, emotionally disturbed children, Mescalero Indians, terminally ill elderly, and Melissa has also researched on Post-Traumatic Stress Disorder, computerized DSM and attachment theory. She has been honored as Grand Marshall of the Alan Ross Freedom parade and her organization has received the Outstanding HIV/AIDS Organizational Achievement award. Ms. Grove additionally maintains a private psychotherapy practice and speaks around the nation on issues pertaining to mental health and HIV through the AIDS Education and Training Center.
When I was first diagnosed with muscular dystrophy, I lived in complete denial. I didn’t want anyone to know and I made excuses why I had difficulty walking up stairs or said I was just clumsy from my frequent falls. I wanted to be “normal,” a normal wife and mom. I was pretending to be someone I wasn’t, and didn’t fully embrace the true me. As the disease progressed, I couldn’t hide the fact that I was different, I felt like a failure, that it was my fault. It took some time for me to understand that it was a genetic mutation that I had no control over. I became aware of how much energy I was wasting by denying my reality rather than accepting it.
What has helped me with my diagnosis is recognizing that I have a choice in how I handle this disease. Instead of feeling like a victim, I chose to help others on their journey with LGMD2I. I created the LGMD2I webpage and Facebook Group. I became an active participant in finding a cure by enrolling in studies, registries, and donating blood and tissue.
One of the gifts of having LGMD2I is that it has forced me to slow down and become fully present. I believe I am a better wife and mom because of it. I no longer look at LGMD2I as something that I am fighting, I have complete compassion for it, after all, it’s part of me.
Published September 2014
Biography of Lacey Woods:
Lacey Woods resides in the USA and is a member of the Global FKRP Registry Steering Committee and her biography can be found here.
My life has been a very active life, until recently. I have been extremely active in all sports with an active social and travel focus throughout my life.
School age: Running, cricket, Aussie rules, swimming, tennis, cycling, squash, abseiling, hiking etc. Always able to do every task, and although always a slow runner, and never very strong, was able to participate, compete and enjoy without ever realising that something might have been a problem.
Twenties/Thirties: Travelled extensively, hiking in Europe and throughout Australia. Played a lot of social sports, and achieved high standard at tennis, amongst many other activities, again showing no sign of physical weakness.
Forties: Early to mid-forties still played competitive tennis, swimming, cycling, travelling, and started a family. No signs until late forties when I started running for fitness. Had quite a strange running gait, and an upright running posture, but I thought it was due to bad knees and a bad back because of the excessive contact sport when I was younger.
9 years ago I ran a marathon and was training and running 70 km's every week. I still didn't have any hint that the changes to my body was anything more than physical fatigue. Although able to run the long distances, my pace at tennis and other sport was markedly slower, and I started to find difficulty in bending over, doing sit ups, push ups, etc. I put it down to wear and tear. Medical advice was that it was due to fatigue in my knees and hamstrings. I increased my cycling at that time but did find it difficult to push my legs when riding uphills, etc.
Current decade: 5 years ago, I found that my core was continuing to weaken and my lower back started to have pain and discomfort and extreme tightness, even after stretching, swimming, walking etc. My walking was slightly impacted as I seemed to waddle slightly, but I was still able to go running, but over shorter distances of 5-8kms. I had excellent blood pressure, heart rate, and lung capacity with a resting heart rate of 43.
About 3 years ago I was struggling to bend down and stretch at all and so I took up Pilates, and it was through the physiotherapist that advised I should get some specialist testing for the muscle weakness. It was then that I was diagnosed with muscular dystrophy, and last year I was confirmed as having LGMD2I. I hope that it is confirmed that my two children are don’t have this.
Since then, my posture is weaker, my gait is now quite a waddle, and I find it difficult to walk up any type of incline and stairs. I really cannot bend down to pick things and the overall strength in my core, thighs and hamstrings is almost non-existent. My arms, chest and shoulders are still relatively strong, however there is noticeable weakness around my neck and I see a lot more puppy fat about my midriff. But, at this stage, I am still walking, still able to drive, and get out and about. My heart rate is still pretty good, although I do find myself huffing and puffing wiht minimal exertion. I try to go to the gym for basic weight training and some boxing, which is only low impact and not too fatiguing. My lungs at times feel quite weak and my capacity to take large breaths and exhale heavily has really reduced. I used to be able to hold my breath for two minutes but now 20-30 seconds is a challenge. In humid weather I get very tired after only 10 minutes of walking, or after minimal gardening.
Past twelve months: I have noticed that I am now struggling to get out of bed easily and I find that it is impacting my approach to dressing, such as tying up shoe laces, etc.
I am unsure of how quickly the next phase will take over, but I am currently focussed on my 20 year old son, and 17 year old daughter. I am still travelling, still getting out into the world. Standing tall............