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Do you recall your initial thoughts when you received your diagnosis?
When I was diagnosed by a doctor 17 years ago, my mind just went blank. In that moment, I wasn’t yet able to accept the news. I typically am a positive thinker, and interestingly, that was an obstacle to my accepting the reality of my diagnosis; that my future would now look different. Later, once the information set in, I experienced subsequent depression, daily sadness and worry about not only my future, but that of my children. There was so much uncertainty about how to move forward in my life: What should I do? I did a lot of online research into the history and evolution of GNEM. One help for me was that my older sister had actually been diagnosed with GNEM more than 10 years before. Thanks to her experience, I at least had a minimal understanding about the disease. I still worry about my progressive muscle weakening; I have to work very hard just to maintain my usual daily activities that most people needn’t give thought to. Now every few years, I lose some physical functions and/or my movements become more difficult. The most obvious examples are: the inability to open soda bottles; the inability to stand easily; and my now requiring assistive devices when walking (walking sticks, walkers, wheelchairs, etc.). – Kelly Ma, Taiwan
How would you explain your disease to your family and friends?
My family and friends understand perfectly. Many of them offer help, and they worry. Of course, it is difficult for them to understand exactly how I feel or what it is like for me to live with this every day, but they do help and support me a lot! – Yulia, Russia
What’s the hardest part of having your disease?
The biggest challenge for me is simply being able to accept it. And, it’s still difficult to present with GNEM in public spaces. People can be very vain. The other difficult factor is living with the constant uncertainty of how far my disease will progress. Planning for the future can be a challenge for this reason. Waking up to realize that something that worked in my body just a short time ago, no longer works today. – Leif Roth, Switzerland
What do you wish people knew about the reality of living with a rare disease?
I want people to understand that people with rare diseases may not have had their disease since childhood. But in most cases, a person living with a rare disease has likely already experienced a number of social setbacks as a result of their condition. Because of the progressive physical deterioration of GNEM, they will eventually lose their ability to walk independently, and have to use a wheelchair. And that their hearts are sensitive and fragile. I hope that family members and society can show us greater tolerance, compassion and care, and be more accepting humans with rare diseases. – Kelly Ma, Taiwan
What relaxing moments would you like to share?
The most relaxing moments for me are when my busy workday is over, and I can relax at home by enjoying TV dramas, lying in bed and listening to music, getting a massage or giving massages to others, and getting together with family members to chat and gossip. – Kelly Ma, Taiwan
If there were a cure, how would it change your life?
If a drug is developed that can improve or preserve muscle function, that would change my life a lot. I would certainly approach life with a perspective of greater confidence and peace of mind for the future! — Yulia, Russia
If I could have a cure for GNEM, then my life would become full and I could do everything for myself and for my family. I could go to work, travel and find true happiness. Happiness is being able to hug your daughter, pick up your granddaughter, and go for a walk with them. – Svetik, Russia
What struggles do caregivers of a rare disease patient face?
The difficulty of being a parent of a patient with a rare disease is that you become not a free person – you are constantly attached to the patient, and must always be there to accommodate their needs. It’s physically challenging just to physically help the patient get up, lie down, sit down, walk, bathe, feed. A guardian cannot even work normally. The hardest thing is that children caring for a sick parent can’t live separately, so it is very difficult for them to create their own families. – Svetik, Russia
