Growing up, my cousins and I watched as our parents strangely became slowly more and more limited in their mobility. As young kids our parents explained to us that our family was different from other families, and that one day they might depend on us to help take care of them. That’s because for reasons unknown at the time, five out of my grandma’s six children had all been diagnosed with LGMD2B. The doctors could never really explain to them why this was happening, but they did all agree on one thing; “there is no cure, it will get worse with time, and there’s little to nothing that can be done”. At the time it was impossible for our parents to understand the implications of this prognosis. Even more perplexing was trying to figure out how a recessive disorder had managed to affect an entire generation in such a dominant manner.
Over a decade later the implications began to become very clear as my mom and her siblings began to decline faster and faster. It was clear by now that what the doctors had said back in the late 80’s was more than true and the reality was catching up fast. Nevertheless, everyone in my family remained optimistic that the new millennium and its improvements in science and technology would eventually find a cure and this nightmare scenario would soon be just a distant memory for us, but nothing happened. A few more years passed, and by the time I was 15 I noticed I could not walk or stand on my toes. When it was brought to my mom’s attention I remember seeing her completely break down from one minute to the next, for she realized what was going on right away. Her son was showing the first symptoms of LGMD2B, except it was happening almost 10 years earlier than it had in her case. Needless to say we were all devastated when we realized that not only was the nightmare not going away, but it was in fact getting worse.
Within a few months a blood test officially confirmed what we already knew to be true, so by 16 I was officially another statistic of LGMD2B and worst of all I didn’t understand why. It would be six more years before I would learn of the Jain Foundation; an organization that with the help of genetic sequencing technology helped my family and I understand our mutations and consequently the reason a recessive disorder was behaving what seemed like a dominant manner. For the first time my family and I had the answer to questions that had been unanswered for over two decades. But the Jain Foundation had done something more importantly than merely answering an old puzzle for us; it had created a bridge between patients and researchers. This meant that for the first time it was possible for us to have an active role in supplying crucial information to the people who will one day find a way to put an end to this debilitating disorder.
We all have a role to play on this journey towards a cure, which for the first time in decades has a truly dedicated partner in the Jain Foundation. It is important that we as patients use this great partner to come together with researchers and doctors and work as a one voice with one cause to spread awareness and urgency. It’s up to us patients to contribute in any way we can, and seemingly small steps like knowing our mutations will eventually go a long way. In the end we can either remain divided, ignorant and weak, or we can unite and take advantage of the resources at hand to push for knowledge, and hopefully someday soon we will once again be strong.