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The Fight of my Life and That of our GNEM Community

Once you choose hope, anything is possible"    Christopher Reeve

Imagine you have a very active life as a mother and professional. Then suddenly, inexplicably, something changes. You become weak. Everyday tasks become harder to complete. Moving becomes difficult. Multiple trips to the doctor do not provide answers or solutions. And to make matters even worse, your siblings display the same symptoms. This is my story and that of my four other GNE Myopathy affected siblings.

By the year 2000, my symptoms were severe enough to interfere with my life. I began to fall and to have other mobility-related accidents. I started wearing a leg brace, hidden under my long pants so that my children wouldn’t worry. What I found to be the most frustrating was that I could not be physically spontaneous anymore. I couldn’t jump in the car to run a quick errand, or go to the beach and walk barefoot in the sand. Everything took time and extra effort.

Finally in 2010, when my doctor told me I had GNE Myopathy, my first sense was that of relief. An unusual reaction maybe, but the doctor's words were an answer to a decades-long family mystery. It had been forty years since then my eldest sister Kamla, began walking with a mysterious waddling gait. This disease eventually became our constant, nameless companion, until, finally, this mysterious disease had a name. That was a turning point, the beginning of a new path that was lined with hope. Still, it took courage for me to walk that path, as I realized that I would follow in Kamla's faltering footsteps, with the loss of mobility,  independence, and  ultimately confinement to a wheelchair.

Daily, I continue to experience physical challenges. Now I wear two leg braces and use a wheelchair more often than not. I need assistance to maintain my household and even to do something as simple as feeding my cats. It takes me five times longer than before to do such little tasks as dressing myself and getting in and out of bed. I choose hope, and therefore will not allow these challenges to stop me from attending an adaptive physical exercise class, and assisted swimming to slow the progression of GNEM.

I have seen the whole spectrum of devastation that GNE Myopathy brings.  It has ranged from my eldest sister to my younger brother, who is now completely immobile and dependent on others for care. I realized early on that I must be an advocate for myself and for my fellow GNE Myopathy survivors. I am motivated by a deep sense of duty to help others get faster testing and diagnosis by connecting them with the right support groups and resources.

My mission is to focus my efforts on expanding awareness of GNEM, on the importance of genetic testing, and connecting patients to the latest research. I have been fortunate to meet others living with GNEM, face to face as well as through my blog, social media, and the global online communities at curehibm.org and gnemyopathy.org.   Through it all, I am touched and inspired by the grace with which we handle our challenges. The indomitable spirits of my GNEM family and friends keep me going, working tirelessly to expand awareness of the disease, to find more patients to enter research studies and share resources, and ultimately, to find a CURE.

I remind myself often that on this journey of living with GNEM, I must undergo some remarkable personal challenges and push myself to clear these recurrent physical and emotional hurdles. I must come to a place of acceptance within myself as I witness my physical decline. I have learned that acceptance is not failure. Acceptance frees me intellectually and emotionally to continue the battle, a battle of our GNEM community, until it is won.

I think we are close to winning the battle… through GENE THERAPY. The Neuromuscular Disease Foundation (NDF) is at the forefront of exploring gene therapy as a viable treatment or cure for GNE Myopathy. I am proud to be one of two Patient Advocacy Program Managers working hard alongside their dedicated team to improve the lives of people living with GNE Myopathy through patient advocacy, and the funding of clinical research through collaborations with scientists and physicians worldwide.

When I had those first frightening episodes of weakness, stumbling, and falling as a 32-year old professional woman with two young children, I never thought I would be asking for money for research to combat a progressive debilitating disease. But I am fighting for my life. I ask you to be as generous as possible to fund research for treatment or a cure for many others struggling with GNE Myopathy.

This is where I need your help. The Neuromuscular Disease Foundation is positioned to bring us gene therapy. Thanks to a game-changing matching grant received by a private foundation that chooses to remain anonymous, we have the opportunity to fund our efforts in gene therapy, the only hope for cure. This year we have already raised an impressive $1.7 Million toward our matching grant of $2.5 Million. In order to receive the grant money, we need to raise an additional $800,000 in the next few months.

To make a donation you may make checks payable to NDF and mail them to 269 S. Beverly Drive #1206, Beverly Hills, CA 90212 or use a credit card, click the DONATE button. Please note 100% of your donation is tax deductible and goes towards gene therapy.  https://donate.curehibm.org/fundraiser/1728680

Thank you

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