GNE Myopathy is a rare genetic disease with a worldwide presence. There are currently 2,000* identified cases on 6 continents. The Neuromuscular Disease Foundation (NDF) is committed to supporting the global GNEM patient community through holistic programming, comprehensive educational resources, the galvanization of world-renowned experts toward the aim of spreading awareness and advancing research, and first and foremost, delivering the treatment that will end GNEM as we know it. The NDF is the world’s single largest funder of research in the service of ending GNEM.

One of the biggest obstacles in dealing with rare diseases is not fundraising, securing volunteers, or planning events. In support of GNEM patients, the single largest obstacle we often face is lack of public knowledge, awareness and compassion toward those living with GNEM. For patients and their families, a GNEM diagnosis can be an overwhelming and isolating experience. Little is commonly known about the condition, except from within the inner circles. Even the journey to diagnosis can be long and uncertain, as the medical community is less familiar with identifying GNEM indicators, than with ubiquitous diseases such as cancer, or coronary disease.

What we have learned in our efforts to empower patients of a rare disease, is that the simple act of sharing personal stories and experiences serves both the patient, as well as the global community, by sharing with the world how GNEM patients feel and experience life. We live in a predominantly ableist society, in which it is too easy to go about daily life with blinders on to what others are experiencing. It is our goal to lift the veil into the private world of rare disease patients, and in doing so, to catalyze a more understanding and inclusive global community. We are all sharing in this human experience together, and what affects one community of individuals, has ripple effects that impact us all. We sat down with a group of GNEM patients, to discuss with them what it is like living with GNEM.

Do you remember the first thoughts you had when you were diagnosed?

It may sound strange, but I felt relieved to finally receive my diagnosis. I had waited almost seven years for a correct diagnosis to explain my symptoms, and had undergone multiple examinations at several hospitals. Of course, when I was told my condition, I still had to google GNE on the internet; I’d never heard of it. — Leif Roth, Switzerland

When I was first diagnosed, I was in shock. I just had a hard time believing that it was possible for me to have an incurable disease. I was healthy. And, I didn’t really believe in genetics. Of course, I was deeply upset by my diagnosis. – Yulia, Russia

How would you explain your disease to your family and friends?

It is a disease caused by a genetic defect that progressively deteriorates the body’s muscle tissue. As a result, muscles lack a protein that is needed to be healthy. GNE notably affects the muscles that control appendages, like the feet and hands. Often the first telling symptom is “foot drop,” a difficulty lifting one’s foot. – Leif Roth, Switzerland

What’s the hardest part of having your disease?

The most difficult thing is my increasing physical weakness, and the fact that I can’t care for myself or be independent – that I need to depend on my daughter, who helps me with everything. – Svetik, Russia

I have lost many skills, but I still try to live as full a life as I can. The most difficult thing for me about this disease is that the muscle deterioration progresses relentlessly. And each time, a skill or ability is lost, and I then must re-adapt all over again each time, forever. – Yulia, Russia

What do you want people to stop telling you?

I want people to stop telling me “Your body is getting weaker, stop dreaming, it’s not realistic to think that you can still achieve your dreams,” and “All three sisters in your family have a rare disease. Since you are so weak, you should just accept government subsidies, and stop trying to build your own business. You just don’t have enough ability with your disease to run a business successfully.” — Kelly Ma, Taiwan

What do you wish people knew about the reality of living with a rare disease?

What is surprising is that the disease manifests into your twenties or thirties, not immediately from birth. And there’s no way to stop its progression. – Svetik, Russia

Good question. The point is that it is a very rare and incurable disease. There are other rare diseases that are curable, and there is a big difference in explaining this disease to people. At the end of the day, it doesn’t help to get upset about something you can’t change. As with everything. You often feel lonely with this disease, because there are so few people who are going through the same thing. It’s also hard to explain what you still can and cannot do, which changes from day-to-day, and exactly what is the problem – that certain things they have known you to be able to do are now no longer possible. – Leif Roth, Switzerland

How do you view yourself since the onset of this disease?

Since I was diagnosed, I have constantly felt that my life is limited, and the window of time that I will have full mobility is diminishing. I feel driven, like I have to race against time. Like what I want to accomplish in my lifetime needs to be intensified and completed in under twenty years. So getting married, having children, buying a house, starting a business, and making decisions, these experiences must all be accelerated, while I am still mobile. – Kelly Ma, Taiwan

Often as vulnerable and weak. I was athletic before; I played tennis and table tennis. You watch your body slow down and weaken over time. Of course, the unaffected muscles can be trained, which I work at doing. But the weakening of muscle tissue goes well beyond the normal effects of aging. I am lucky that the disease has progressed very slowly, so I’m not very limited. Fast walking, running, jumping, playing soccer and skiing are no longer possible, though. But I can still go hiking, snowshoeing and cycling. It’s been almost 15 years since I first noticed that something was wrong with my legs. – Leif Roth, Switzerland

Do you have a favorite thing that helps you in everyday life?

Yes, foot holders (orthoses) and Scandinavian walking poles help me. – Yulia, Russia

What is the biggest obstacle you’ve overcome?

I think the biggest obstacle to overcome is how to face myself in the process of accepting my disease. There’s another big obstacle in learning to get along with family and friends, under such changed circumstances. This is not an easy task. Something that they don’t teach you in school is how to face the sudden changes of life. I’m still learning everyday how to accept myself as a disabled person, and to be okay with having to use a wheelchair. It’s necessary to go through these hard emotions of shock, depression, helplessness, waiting, hoping, the many ups and downs, and finally to cheer up and take on my new normal. . . – Kelly Ma, Taiwan

What relaxing moments would you like to share?

The brightest moments are when I have my daughter nearby who helps me in everything, and also the hope that a cure for GNEM will be invented, and that I will be able to use it. – Svetik, Russia

If there were a cure, how would it change your life?

If there were a cure, I could provide myself and my family with stable economic conditions and a better quality of life. I would really like to help disadvantaged groups to improve their lives by providing more education and training for them, so that single mothers and people from disadvantaged families can learn to work to have sufficient incomes, and create stability for their families. I would like to be an international goodwill ambassador, and provide information to Taiwanese patients and friends. So that they could have an open channel with the international world, and develop a global perspective. – Kelly Ma, Taiwan

What struggles do caregivers of a rare disease patient face?

I find that the biggest dilemmas for caregivers of rare disease patients are: There’s an unbalanced dynamic, where the caregiver can only give, but that care can’t easily be reciprocated. They also bear the financial burden of the family: the needs of patients’ medical care, assistive devices, and nursing expenses. And that the caregivers will get older and themselves need to be taken care of. As the caregivers of rare disease patients, they bear great mental and physical pressures. They must take good care of the patients, and of themselves, doing more, with less help. – Kelly Ma, Taiwan

If you are a GNEM patient and would like to access resources provided by the Neuromuscular Disease Foundation, including patient support groups, emotional wellness clinics and more, please click here.


*GNE Myopathy patients may go undiagnosed or misdiagnosed with a different disease for many years. There are ~2,000 patients known worldwide and ~200 in the United States. However, we estimate (based on examining DNA sequencing databases) that there are at least 40,000 GNE Myopathy patients worldwide, including ~13,000 in Asia (~750 in Japan), ~4,000 in Europe and ~3,000 in North America, meaning that many patients are undiagnosed. Source: National Human Genome Research Institute.