The TS 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
“In January 2002, our daughter Ashlin experienced her first seizure at four months old. A CT scan found “spots” on her brain and we were accused of Shaken Baby Syndrome, despite the fact that all further testing showed no indication of abuse. Four weeks later, a second opinion confirmed with an MRI that Ashlin had tuberous sclerosis complex. We were angry, heartbroken and isolated, and we struggled to understand what all of this meant for the future of our daughter. In those first few years, we watched as multiple seizures riddled her body. We felt helpless and desperate as we tried countless medications to control each new type of seizure. We watched this disease rob our daughter and us of the development you eagerly wait to celebrate as milestones are achieved. We were powerless as multiple hospitalizations, life flights, numerous failed medications, rescue meds, MRI’s, ultrasounds, echocardiograms, EEG’s, and blood draws dictated our daily lives.
Status Epilepticus, a prolonged seizure when Ashlin was 2 ½ years old, ripped away a piece of our child. She came home after a 10-day hospital stay with paralysis, no vocabulary, the inability to feed herself, sit up, crawl or walk. Since then, Ashlin has been receiving therapies for all of her delays and behavior issues, and support to assist in daily living skills. Ashlin is 14 years old, but has the developmental skills of a 3-year-old. We have maintained overall seizure control for 8 years, with a few break through seizures. She takes 13 doses of 6 different medications daily to control her epilepsy and behaviors. One of her medications, Afinitor, is the direct result of TSCRP-funded research leading to an FDA-approved treatment for angiomyolipomas in her kidneys. She is autistic, has brain, eye, heart, skin, and kidney involvement. She has significant developmental delays, limited verbal ability, and paralysis on her right side. Ashlin will require assisted care for the rest of her life. The insight needed in those early years when development is so critical, was not readily available.
Our son Mason was diagnosed with TSC on April 21st, 2014. We immediately started early interventions for physical therapy and speech. He has epilepsy, brain, skin and eye involvement from TSC. We worried his journey would be as devastating as Ashlin’s, wondering if we would watch his development regress. We immediately enrolled Mason in a clinical trial called Early Biomarkers of Autism in Infants with Tuberous Sclerosis Complex. He had a normal EEG at 6 months, abnormal at 9 months and constant fear loomed over us wondering when the seizures would appear. A local EEG at 11 months revealed no seizures even though we were highly suspicious. Mason’s 1-year EEG revealed clinical and subclinical infantile spasms, a catastrophic form of seizures that can have profoundly negative long-term developmental and cognitive consequences. The recommended first line of defense, vigabatrin, was prescribed and started within 6 days of the seizures appearing. He’s maintained seizure control with Infantile Spasms since October 2014.
In 2015, Mason also went into Status Epilepticus and we knew what to do: When the seizure didn’t stop with the first round of emergency medicine given, we called 911. We watched as seizures ravaged our baby’s body, petrified of what the long-term effects could be. He recovered with no major setbacks, a blessed miracle for our family. An additional epilepsy medication was added and Mason will soon celebrate 1 year of seizure freedom. On his second birthday, his EEG was normal. Today Mason is almost 2 ½ years old, and he is walking, talking, and learning new things every day. While we have no way of knowing what tomorrow will bring, we are better prepared since we now understand the preferred course of treatment if TSC manifests in other organs. Both of our children are involved in various research opportunities to help provide a better understanding for those affected by TSC in the future. We are fortunate to have some of the best TSC specialists overseeing our children’s care. Mason is excelling today because of the continued insights gained, resulting in a better quality of life.” – Shelly Meitzler
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.
Now 12 years old, Bao has really been working hard in 6th grade. He’s done 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.”
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 TS 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 TS Alliance can continue to work toward unraveling the mystery of TSC while ensuring the people we serve are supported by any means necessary.