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. We eventually found ourselves at Boston Children’s Hospital, undergoing a litany of tests. After a few days we finally had a diagnosis. CIDP—Chronic Inflammatory Demyelinating Polyradiculoneuropathy.
It is a mouthful, I know. As a health care provider myself, I was surprised I did not know what it was. We soon came to learn that not many other people did either. A rare disease, somewhat similar to multiple sclerosis, thought to be triggered by either virus or vaccine, it sent us down a long, winding path of trial and error treatments and missteps. IVIg infusion treatments initially seemed to work and almost overnight we saw some resemblance to the girl we knew. But then she seemed to get weak again—or at the very least she did not get any stronger. Steroids were added, which would cause her face and body to bloat into some distorted, puffy caricature of our beautiful, sweet girl. They seemed to help. At least she did not get weaker. And so we continued down this path for some time.
She 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. Eventually, the steroids caused osteoporosis and she would suffer fractures in her spine. We tried weaning her off of the steroids, but each time she would become weaker. She underwent surgery for a central line to be placed into her chest so that she could undergo plasmapheresis treatments that would remove the plasma from her body and replace it with a salty mixture, in an effort to try to extract the CIDP from her blood. It felt like an archaic treatment from the middle ages—not far off from using maggots or leaches. But she did not get better. Her doctors were confounded and 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 did not in fact have CIDP but instead had an extremely rare form of Charcot Marie Tooth Disease–a degenerative, genetic disease called CMT4J. Only twenty-two people in the world have been identified with it. It causes progressive, profound muscle weakness. It can cause sensory problems and deformities of the hands and feet. It can act like a slow-moving ALS train, causing paralysis and limiting a person’s respiratory capacity. Doctors said there was no treatment or cure. We were supposed to sit back and watch our child 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 took on the science, funding and push for an expedited path to a cure for their child, with many successes. They are quickly giving a voice to the world of rare diseases. And researchers and stakeholders are starting to pay attention.
We are in the infancy of this parent-driven model for finding a cure. Our hope is that it becomes a fast-moving train, accumulating the experts, knowledge and funding as quickly as possible. Already we have established The Talia Duff Foundation led by a talented team of experts whose experience across business, medicine and development prove critical to reaching our goal daily. Strategic fundraising efforts are in place and my family is touched each and every day by the outpouring of generosity from friends, family and strangers. Already these contributions will fund the first meeting of our scientific team early this Fall.
Led by Dr. Jun Li of Vanderbilt University,we have 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.
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.