My Story Into Understanding LGMD--->Gene--->GNE---HIBM--->

In trying to understand what ails me and some in my family medically and physically, I have embarked on a quest to bring understanding and insight into a disease called Hereditary Inclusion Body Myopathy or HIBM for short. I will learn all I can, explore, and bring awareness of this disease to anyone who will listen.

Years ago after my eldest sister started walking “funny” (a waddling kind of gait) we did not know what was happening. We thought because she just had her first child it may have to do with that. As time progressed however, another sister started walking “funny”. They lived in South America where, at that time, it was difficult to get an official diagnosis. They were told they have a form of muscular dystrophy(Limb Girdle Muscular Dystrophy or LGMD). Later, I had myself checked out by a neurologist and the tests proved inconclusive. About twenty years later I joined their waddling gait club.

This was a very scary and confusing time for me. I went through many scenarios of doom and gloom, and what if’s. At the end of this dark tunnel, I decided that I must take action. The actions I have taken then was to study articles, research findings, and seek out anyone who knows anything about my disease. I have consulted numerous doctors, scientists, and laypersons from near and far about Limb Girdle Muscular Dystrophy. I spent most of my time trying to get a definitive diagnosis. One research hospital had my biopsy taken and sent parts of the biopsy to various institutions and, as new tests became available they would put a fiber from my muscle to see if it would be positive for a subtype of LGMD. Still my muscle fiber failed their tests for LGMD with no definitive diagnosis.

Then a little less than two years ago, I got phone call from one of the team members of the Children’s Hospital in Boston. She said “I have news for you”. Long sigh on my side with my thoughts spinning on many levels. “your family does not have LGMD but something called Nonaka Myopathy”. At that instance, I was thinking that no one in my family is Japanese and myopathy relates to muscle. She was able to explain to me what Nonaka Myopathy is and it is called by different names i.e. HIBM, Distal Myopathy with Rimmed Vacuoles-DMRV, GNE Myopathy.

I felt an enormous relief, a kind of freedom like a heavy weight have been lifted. Towards the end of my conversation with her I stated “ I feel fortunate to have HIBM”. In many aspects I do feel fortunate. The most immediate, was my family and I have finally gotten a definitive diagnosis. I was also asked to contact HIBM/HRG lab founded by a compassionate doctor Dr. D. Darvish.

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