Tara - My Family’s Story
"Everything can be taken from a man but one thing; the last of the human freedoms—to choose one’s attitude in any given set of circumstances, to choose one’s own way." ~ Viktor Frankl
My name is Tara and I was born in a rural village in a small country in South America. I am of East Indian origin and have six siblings. Five out of the seven of us have GNE Myopathy (GNEM) two siblings are unaffected. I feel very fortunate that all seven of us did not have to experience the “wrath and ravages” of GNEM.
As a teenager growing up in my big family, I noticed my eldest sister started walking in an unusual way (a waddling kind of gait). At that time, we thought it was because she had just given birth to her first child. As time progressed, however, we noticed that she avoided coming to our home, which was about one mile from her home. She used to walk almost daily to visit us and bring me detective magazines to read. I always looked forward to her visits. Sad to say, we thought that she had become “lazy” and did not want to walk the mile to visit us. Decades later we now understand why she avoided visiting us.
During the late sixties, significant political unrest developed in my native country. No proper medical facilities existed to diagnose my sister; thus, she went undiagnosed. It was not until fifteen years later when my second sister exhibited the similar “waddling” gait pattern that she was then able to get a diagnosis of Limb Girdle Muscular Dystrophy (LGMD). Since I was not living in the same country as my two sisters, it was quite difficult to understand what really was going on with them, and how the progression of this disease was manifesting. (This was a time before cell phones with cameras and Facetime, etc.). Nevertheless, I decided to get myself examined by a neurologist in Los Angeles, but the tests for LGMD came back inconclusive.
Over the course of time this pattern of “waddling” gait showed up for yet another of my sisters, my only brother, and eventually me. Some of my siblings started showing symptoms in their mid-twenties and some in their mid-thirties. When I was told that we all had LGMD, I sought out numerous doctors, scientists, and lay-persons in the U.S., as well as globally, to find out what subtype of LGMD we carried, as LGMD has many subtypes.
My symptoms started in my late thirties, which caused me to stop working, due to progressive weakness and frequent falls. Since then, I have devoted my time to adaptive exercises and pursuing doctors, and researchers in search of a definitive diagnosis. One research hospital in Ohio, U.S.A. had my biopsy taken in 1997 and sent samples of my muscle fibers to various research institutions. As new tests became available, these institutions would test a fiber sample from my muscle biopsy to see if it would be positive for one or another subtype of LGMD. Still, my muscle fiber failed many tests for LGMD.
In 2009 a group of researchers from Children’s Hospital in Boston decided to include my family in one of their LGMD studies. After waiting for two years to get a report on this study, I got a phone call from the geneticist of this hospital. She said “I have news for you.” There was a long anxious sigh on my end of the phone; my thoughts traveling at lightning speed. What will she tell me and am I ready to hear it? She said, “your family does not have LGMD, but something called Nonaka Myopathy”. At that instance, I was thinking Nonaka sounds like a Japanese name; and Myopathy relates to muscle. She then explained to me what Nonaka Myopathy was, and that it is known by different names e.g. HIBM and Distal Myopathy with Rimmed Vacuoles (DMRV). In 2014 an international consortium of researchers agreed to name my disease GNE Myopathy, after the defective GNE gene.
Finally, after forty years of waiting for a correct diagnosis, my family now knew the name of the disease and that it was not some unknown LGMD subtype. I felt such an enormous relief, a kind of freedom of sorts, it was as if I could fly as freely as a butterfly. For some reason, towards the end of my conversation with her, I stated, “I am glad we have HIBM.” In many aspects I do feel fortunate because my family and I have finally gotten a definitive diagnosis. What ails us has been given a name and we can now attempt to learn all about this disease. The team member also referred me to some people and related resources.
One of those people I contacted was Dr. Daniel Darvish. I called his office and told him that I just found out that I have HIBM. He was very patient and empathetic to me. He answered my questions and told me about the progress that had been made with GNEM research. I am unable to express in words how I felt after talking to Dr. Darvish that day. After I finished talking with him, I felt very hopeful that a cure would most likely be available in my lifetime. Fortunately, I had connected with someone who, not only is a doctor who has GNEM but, most importantly, understood what the challenges are to those who have GNEM.
Since that memorable day in June 2010, I have met many individuals with GNEM and researchers who are studying this disease and I was introduced to the Neuromuscular Disease Foundation (NDF). This is now the foremost non -profit organization for GNE Myopathy patients and their families. I now work as a Program Manager and Patient Advocate for NDF. In addition, I write a blog and co-founded GNE Myopathy International.
I continue to look for possibilities- the possibility that we can have a cure, whether from stem cells, a substrate, or from gene therapy. I think an effective therapy would, not only stop the progression of GNEM, but restore or regenerate the affected muscles. All of this seems like a daunting and almost impossible task nevertheless, it is comforting to know there are dedicated efforts being made by various entities to bring a cure to patients.
My mom is in her late-eighties, and what a precious gift it would be if a cure became available for her children. My parents have lived through our declining function, our sorrows, tears, thwarted aspirations, and our disappointment in not being able to help them in their old age. My father, who recently passed, was a Hindu priest and had high hopes that his only son would continue in his footsteps and carry on the family name, as is customary in our culture. Well, that may not happen or could it? My parents have always maintained a positive outlook and have continued to help us and do so with grace, love, and enduring empathy. My current focus is to stop the progression of my ever-failing muscles, and to help in ways that I can to facilitate a cure, not only for me and others here and now, but for all future generations.
Learn more about Tara and GNE Myopathy on her blog, here.