When Talia was born she turned our world upside down with her peaceful beauty and her extra 21st chromosome from Down Syndrome. It took us a few days to realize that life could go on—that it would just be a bit different. And quickly we fell head over heels in love with her. Our lives were rich and joyful. We learned to celebrate smaller moments in life and were quickly adopted by a large community of other parents of kids with Down Syndrome who had an infectious love and enthusiasm for their child. Talia’s bright smile and blue-green eyes drew everyone in to her circle and taught them something they didn’t know about themselves. We truly felt blessed.
But then, when she was four, a horrible thing happened. She began to slowly lose those motor milestones that were so hard to achieve in the first place—that doctors and therapists felt were delayed because of her Down Syndrome. She was never able to walk up stairs, but she could crawl. And her crawl became a funny sort of tripod crawl, using her chin to help her up each step. She was sick all the time. And with each sickness, she became a little weaker. Ultimately, we were given a diagnosis of a treatable neuropathy, known as CIDP. This sent us down a long, winding path of trial and error treatments and missteps. IVIg and steroids helped immediately, but never brought her strength back to baseline. Steroids can be game-changing, life-saving treatments, but side effects from long-term use are horrific. A central line was placed to try something called plasmapheresis. An immunosuppressive drug was tried. Both to no avail
Back then Talia was able to walk the length of a football field in her bright, yellow walker. Through the years she would remain incredibly resilient, cheerful and brave. Her strength was like a mini roller coaster, but she did not get back to baseline, or anywhere near her expected level of strength and function. Her doctors started to question her initial diagnosis. She would fall and fracture her leg and get weaker still. And then we would receive the worst news of our lives.
We learned that Talia had an extremely rare, neuro-degenerative disease known as Charcot Marie Tooth Type 4J (CMT4J). Only twenty-two people in the world have been identified with it. CMT4J can cause progressive, profound muscle weakness leading to paralysis. It can cause deformities of the hands and feet and joint instability, requiring surgeries. CMT4J can even restrict a person’s respiratory capacity, making it difficult to breathe or cough, sometimes leading to cardiac complications, as well. We were told there was no treatment or cure. We were supposed to sit back and watch our child grow weaker–live her life in reverse. I decided not to accept this. I stayed up late nights poring over scientific papers and booked appointments with the top CMT doctors in the world. We traveled to the University of Iowa and then Vanderbilt University, where we met Dr. Jun Li. As I regaled him with my timeline and charts of Talia’s story and response or lack of response to various medications, he interrupted me: “You know there is a possible cure…it will take eight, maybe ten years to get there, but it does exist.”
Cure. I never thought I would hear that word. But eight to ten years? I knew we did not have that kind of time. With such a rare disease, who would ever take an interest in us? Of course I pressed him to find out how we could get there faster. Dr. Li introduced me to a new world of parent advocates. These parents take on the science, funding and push for an expedited path to a cure for their child–often with many successes. Parent and patient-driven disease foundations are giving a voice to the world of rare diseases. And researchers and stakeholders are starting to pay attention.
Armed with this information, we quickly set to work, in June 2016, pursuing a parent-driven model to a cure. We assembled a talented team of experts whose experience across business, medicine and development led to our establishing our non-profit called CureCMT4J. The goal of CureCMT4J is to fund and drive forward the science required to advance gene therapy to cure this horrible disease and others like it. Along the way we also do a great deal of advocacy for rare diseases.
In October 2016, we hosted the first symposium on Cure CMT4J that led to the development of a truly world-class scientific investigative team led by Dr. Jun Li of Vanderbilt University and comprised of leaders in gene therapy and viral vector development, scientists who know the mutation involved with CMT4J better than anyone, and physicians who have traveled the path of gene therapy from drug development to clinical trials. We are locating others with CMT4J who are also desperate for some hope. Eleven families have reached out to us thus far.
Preclinical work is well underway at Jackson Laboratories, funded by a Precision Genetics Grant from the National Institute of Health, and we expect proof of concept by end of summer 2017 when we will chart a path towards pursuing a human clinical trial with the FDA.
We have accomplished an impressive amount in one year’s time but we must raise the funds necessary to support the continuation of this impressive work. To date, we’ve raised nearly $250,000, and by year’s end we need to reach $1 million (potentially $3 million in total) to complete this important work.
Please help us get there by donating here »
We need to move quickly for Talia and others. If we can travel this road together, proving the science that we believe is there—that has been shown possible in other similar diseases–then we can make history together.