Our kids grew up as many children do – carefree, curious, active, and enjoying many interests. Our daughter loved dancing, biking, and painting as a child. Our son loves photography. Our children seemed mostly healthy and happy growing up and we felt blessed to have a close, warm family life.
Despite being generally active, our kids had some difficulty running and jumping like other kids since about age four. With the medical knowledge available at the time, both were diagnosed with hypotonia, meaning they simply had less muscle tone than normal. They engaged in activities that they thought they could do and were able to enjoy life. To a large extent, we put our worries aside.
But as they entered their teen years, both of our kids began to display very concerning symptoms in their normal activities. Climbing stairs became a challenge, as did rising from a seated position. Soon our son started struggling to keep up with the normal walking pace of his friends. It became obvious to us that something was terribly wrong. This was followed by two years of specialist visits and tests to find the cause for these worsening symptoms.
In Fall of 2021, we received devastating news. At the Children’s Hospital of Los Angeles, we were told that both of our kids have an ultra-rare genetic disorder, a myopathy caused by mutation in the ADSSL1 gene. We had no idea we carried this genetic mutation, since no one in our families has shown symptoms.
As we sat in the doctor’s office, we learned that ADSSL1 myopathy is a progressive muscular disease with an onset at 13-15 years of age that leads to loss of mobility in legs and arms. Without a timely treatment, our kids could end up losing their ability to walk and lose mobility in their arms. As disease progresses it impacts heart, lungs, and swallowing muscles making the patient dependent on ventilator and feeding tube. Worse, this little known disease is so rare that there is no treatment for it, and, at first, nobody seemed to be looking for one.
We left the hospital that day crushed and confused. What would this mean for our kids – their dreams, their ambitions, their ability to lead independent lives? Was there any hope for their families? How would we as parents guide and help them through this journey when there is little known about this disease and no ongoing research in this area? It was an extremely scary and distressing time for us.
As most people would do, we immediately turned to the internet to research this terrible diagnosis, seeking any kind of hope or help. We learned that ADSSL1 myopathy was first diagnosed in a handful of patients in Korea in 2016, and later in Japan in 2020. To our surprise, these studies were the only two known research papers on this rare disease. There are fewer than 200 individuals diagnosed with this mutation worldwide. The disorder is so rare that it is not even listed with the National Organization for Rare Disorders (NORD), or any other rare disease group we could find. We could not identify a support group for families facing this illness. We felt so alone.
While there are only a few people worldwide with ADSSL1 myopathy, we discovered that there are at least 7,000 rare diseases, and therefore, many families facing similar difficulties. These diseases have little chance of attracting the funding needed to generate cures. With that realization, we decided to pull all our energies and efforts together and become a driving force for finding the treatment for this rare disease.
We started reaching out to many organizations that have been actively supporting research for treatment of rare diseases. Fortunately, we were able to meet Rich Horgan, founder of a nonprofit organization called Cure Rare Disease™ (CRD). Rich is trying to revolutionize drug development for rare diseases. He advised us to seek a Principal Investigator who was interested in ADSSL1 myopathy, and who would lead pre-clinical research. We threw ourselves into a frantic search to find potential researchers. Watching our kids struggle and worried about what the future may have in store for them, we were propelled forward.
After reaching out to various research institutes, we were thankful to meet Dr. Alan Beggs, PhD, from Boston Children’s Hospital, who agreed to lead the pre-clinical research on ADSSL1 myopathy. There is hope for a treatment via gene replacement since this is a genetic disorder. As strange as it sounds, a good copy of a gene can be injected and carried through the body by a virus. This can stop the progression of the disease and help strengthen the muscles. It is new, groundbreaking technology with a promising outlook. When Dr. Beggs agreed to lead the research, we felt a glimmer of hope for the first time since that horrible day at the hospital. But we also knew we would need help.
We have formed a foundation in collaboration with CRD called Cure ADSSL1. We are making it our purpose in life to find a cure. As with any research initiative, this cannot be done by us alone financially. We are looking to raise funds to support the research.
Our kids were independent, happy children. Now their future is slowly fading before our eyes. Every day we see our kids having more and more difficulty with tasks they were able to do a few months or even a few weeks before. The ability to perform activities of daily living is getting significantly compromised.
Seeing our children struggle is terribly painful. We would trade places with them if we could. Even small, day-to-day mishaps make us wonder whether a little bit more of their independence is slipping away. Our children need help and so do others who are carrying this disease. Over the past year we have built a community of patients who have pinned their hope for treatment on Cure ADSSL1. We believe this research and fundraising support will help our children and others fighting this rare genetic condition.
Your support would be greatly appreciated. Please know that no gift is too small, and that every gift will help us move towards our time sensitive goals. Thank you, in advance, from the bottom of our hearts. Please know, too, that with your support we can pave a better path for families like ours in the future!
Priyanka and Naveen