The TSC Alliance’s impact on changing the course of TSC is not only defined by the research we have made possible and the services we provide, but also by the lives we touch and the people we support every day. Below are a few stories that demonstrate how devastating TSC is on those affected, how far we’ve come in terms of available treatments and resources, and why our mission of finding a cure and improving the lives of those affected is so critically important.
When Griffin Moritz was 10 years old, a routine MRI showed an explosion of growth of life-threatening tumors called subependymal giant cell astrocytomas (SEGAs) in the ventricles of his brain. This meant life-saving surgery to relieve the hydrocephalus (or relieve the pressure on his brain) would be risky and difficult, and might not be completely successful. Five years earlier there would have been no alternative but to proceed with the surgery and hope that Griffin would survive. But because Griffin was able to participate in a clinical trial of an investigational medication to shrink the SEGAs, there was a significant reduction in the size of his tumors. On top of that, he has seen a drastic decrease in the severity and frequency of his seizures. For Griffin, mTOR inhibitors have dramatically improved his physical, mental, and emotional health with negligible side effects. He’s even communicating with a device that allows him to deliver common phrases with the touch of a button.
The Meitzler Family
Two of Shelly Meitzler’s three children have TSC. Ashlin was born in 2001 and Mason was born in 2013. Because of recent discoveries in TSC research, their hopes for the future are entirely different.
Ashlin experienced her first seizure at four months old and four agonizing weeks later, TSC was confirmed as her diagnosis. Shelly felt defeated as multiple seizures, hospitalizations, life flights, and countless failed medications and endless testing dictated daily life.
A status epilepticus, or prolonged seizure, when Ashlin was two-and-a-half years old ripped away a piece of her child forever. She came home after a 10-day hospital stay with right-side paralysis, no vocabulary, and the inability to feed herself, sit up, crawl, or walk. She sees 10 different specialists, receives in-home therapy three days a week, will require assisted care for the duration of her life, and takes 13 doses of six different medications to treat the varying manifestations of TSC.
Mason was diagnosed with TSC at seven months old. He was promptly enrolled in a new research study at Boston Children’s Hospital, which has been invaluable to Mason’s developmental progress. When he began having infantile spasms, the recommended first line of defense, vigabatrin, was started within six days, stopping his infantile spasms. Mason went into status epilepticus in March 2015 and required so much rescue medication, a code blue was called to resuscitate him. Fortunately, he recovered with no major setbacks.
Since Ashlin was born, there has been so much progress and because of additional options now available, there is much more hope for Mason’s future. While the TSC community is grateful for current treatment options, they do not work for everyone, and the long-term need is to prevent manifestations before onset. We have made huge progress with TSC in terms of research and new treatments, but we have more work to do and more answers to find.
Ron and Ann Heffron’s son, Bao, was diagnosed with TSC at 5 months. After coming to grips with this diagnosis, they chose to fight back on Bao’s behalf. Their mission in life has become a mission of love, giving Bao the best chance to lead as normal a life as possible. By Ron’s own admission this has not been an easy task. The first thing he and his wife did was to research the disease and various treatments, knowing they had to find a way to stop Bao’s infantile spasms as soon as possible. They attended international research conferences, met with at least a dozen neurologists and neurosurgeons, and read more medical journal papers than Ron cares to remember.
Ron and his wife found the best neurosurgeons in the country, and Bao underwent a three-stage tuber resection process at 13 months old, which was followed by another surgery at 22 months old. Before his second surgery, Bao could not walk. As Ron exclaims, “Imagine the shock on his surgeon’s face when Bao walked into his office two weeks after the surgery!” Although Bao still suffers occasional seizures, they remain milder than those he experienced prior to his surgery.
Bao works hard in school and is doing remarkably well, earning A’s in nearly every subject. He keeps up, but with tutoring and non-stop homework he’s left with very little down time. He loves his equestrian therapy every week, which strengthens him and helps his balance–so much so that his new passion is figure skating. But he also suffers from the relentless effects of TSC. He still cannot chew and relies on pureed food and Pediasure for his primary nutrition. He’s also in pain almost daily with inflamed gums. Bao also experiences kidney problems that result in constant interruptions to his sleep and his study. Despite all the setbacks, Bao valiantly saunters on, embracing the challenges facing him.
“Bao is our hero. He teaches us not to dwell on the negative and to concentrate on the positive,” says Bao’s parents.
These are just a few of the stories that demonstrate the incredible odds people with TSC have faced and how, despite those odds, we as a community have driven progress and spurred breakthroughs that would have been unthinkable only a few years ago. Our fight isn’t over and we cannot do it alone, which is why your support is so important. The fact remains: the TSC Alliance is only able to provide all these services and support programs because of essential funding from people like you.
Today you have the opportunity to make a tangible difference in someone’s life. Please make a gift now, large or small, so the TSC Alliance can continue to work toward unraveling the mystery of TSC while ensuring the people we serve are supported by any means necessary.