Shelly and Matt

Shelly and Matt have two children with TSC 12 years apart. Those 12 years of TSC research have defined their journeys in profoundly different ways.

Two of Shelly’s three children have tuberous sclerosis complex (TSC). Ashlin, her firstborn, is 22 and was diagnosed with TSC at five months old. Mikenna is 19 with no TSC and Mason is 10 years old and was diagnosed with TSC at seven months.

Ashlin’s first seizure was at four months and she was diagnosed four weeks later. The complexity of life flights, hospitalizations, countless tests, and failed medications left Shelly and her husband, Matt, discouraged, defeated, and overwhelmed.

At two-and-a-half years old, Ashlin experienced status epilepticus (a prolonged seizure) and things changed from bad to worse. Ashlin came home from the hospital with right-side paralysis, unable to feed herself, sit up or walk. Today, she sees 10 specialists, takes six medications to treat her TSC manifestations, and receives weekly in-home therapy. She will need assisted care for the rest of her life.

Mason was diagnosed with TSC at seven months. Thanks to the progress made through the TSC Alliance and TSC research, his journey has been completely different.

Mason was enrolled in a clinical trial at Boston Children’s Hospital, which has been invaluable to his development. Within six days of his first infantile spasm, his doctors started him on vigabatrin, a medication that the TSC Alliance helped increase access to. He was seizure-free until 2015 when he went into status epilepticus. Mason received rescue care and was able to fully recover.

“I’ve gained so much more hope for my children’s futures,” Shelly says. “And it’s because of the TSC Alliance’s work. Though every day is unique and complex, we are grateful to have access to quality care and new treatment options.”

The journey of TSC means that the Meitzlers, like many TSC families, continue to fight for new treatment options and better outcomes for their children. There are a lot of questions yet to be answered, and they pin their hope for answers on research.

“There are still countless questions surrounding TSC that only research can answer,” Shelly says. “We must continue learning and working together so that one day every person affected by TSC can live their fullest life.”

Amaan

Amaan wasn’t supposed to walk at all, let alone across the stage at his high school graduation. TSC research changed the course of his life.

For Amaan, the value of tuberous sclerosis complex (TSC) research is embodied by his most recent accomplishment: walking across the stage at his high school graduation. Amaan’s parents, Noor and Zohra, were told he would never walk . . .  let alone at a graduation of any kind.

“He’s a great kid. He’s always smiling,” Noor says. “He makes everything better. He’s got a great smile, he’s always happy, and he doesn’t let anything bring him down.”

For the Panjwani family, Afinitor is one of the major contributors to his success and a stand-alone reason to support TSC research. Afinitor started shrinking a brain tumor that was blocking 90% of the cerebral spinal fluid in the brain, which would have led to deadly consequences. Once Amaan started Afinitor, which Zohra fought for because she’d heard about its potential effect on speech development, the tumor began to shrink and his path turned brighter. He began to speak, and it bought  them 10 years before having to consider brain surgery.

Recently, Amaan did have brain surgery because the tumor started growing again. The surgery removed 85 to 90 percent of the tumor, and Noor reflects on the incredible value of having that surgery in 2024.

“It was amazing that we could do brain surgery and be out in four days,” Noor says. “Ten years ago, there was nothing like that. Because of the research we had Afinitor and then better timing for a brain surgery. The things they can do now are so much more advanced than they were 10 years ago.”

Noor and Zohra have fought hard for every success they’ve seen in Amaan, and they continue fighting. They lead the Step Forward to Cure TSC ^® walk in the Dallas-Fort Worth area and raising money for TSC research through that event has become a family tradition. Extended family flies in, everyone pitches in and Amaan revels in it all.

“It’s his day and he loves it,” Noor says.

Yet, the Panjwani family, like so many others with TSC, are exhausting their options to control Amaan’s TSC manifestations. They acknowledge both how grateful they are for the successful treatments research has given them thus far and the incredible need that remains.

“The whole point is to cure this thing,” Noor says. “And we’re not there yet. We need to find something. When I look at other parents, what they’re going through . . .  they’re going through such a hard time. We need to find something. They’re on three to four medications a day or more, and it’s interfering with daily life so much. We have to find something for them.”

Help the TSC Alliance give the gift of more treatment options to families like the Panjwanis. We can’t do it without each and every one of you.

Hope

Hope was diagnosed with tuberous sclerosis complex (TSC) when she was eleven years old.

“It was a day we’ll never forget,” says Hope’s mom, Jennifer.

Hope had her first seizure at age six. She had always excelled at school, yet suddenly she was struggling to keep up academically. She couldn’t remember how to put on her shoes or that there were twelve months in a year. Despite a traumatic brain injury, her neurologist didn’t believe the seizures and the traumatic brain injury were linked. Then, during a sleep study five years after her first seizure, Hope’s neurologist saw something. Shortly after, Hope was diagnosed with TSC.

“We were told not to Google it,” Jennifer recalls.

As all newly diagnosed families do… they Googled it anyway.

“I wanted to know what we could do for Hope and what our lives were going to look like,” Jennifer says. “Thank goodness we found the TSC Alliance, because we wouldn’t have known where to turn or what to do after her diagnosis… We are incredibly fortunate that a Google search led us to a group of people so fully committed to helping others like us.”

Hope is now thirteen years old. Although she’s now seizure-free, she continues to struggle academically, partly because of dyslexia and partly because of medical appointments and therapy sessions. Her newest challenges are related to TSC-associated neuropsychiatric disorders (TAND) as well as trying to prepare for the transition into adulthood and what it will mean for her. These challenges include finding an advocate for her medical needs (such as organ checks), navigating Supplemental Security Income (SSI)/Disability, housing needs, etc.

“It would be amazing if a cure could be found in Hope’s lifetime,” Jennifer says. “Our wish is for Hope to experience a long, healthy, happy life with a family of her own and to live independently.”

TSC research holds some of the greatest hope for the Gallagher family. Like so many other families affected by TSC, the future holds questions they simply can’t answer without more information.

“We continue to be as involved as we can be with supporting the TSC Alliance as they seek a cure for Hope and other individuals with TSC.” Jennifer says. “We hope sharing our story may move someone enough to contribute to the research the TSC Alliance is doing.”

Iris

Iris Mustich, a 29-year-old clinical research project manager and adult with tuberous sclerosis complex (TSC), is passionate about the TSC community and medical research. Her background in a research office offers her a unique perspective on her own journey and the progress of research. While she works in a setting dealing with other disorders, she’s proud to be part of the research community and recognizes the differences between those disorders and TSC research.

“One thing I know from working in the research industry is TSC research is moving faster than the normal regulatory timeframe,” Iris says. “We’re not by any means dragging things out. Because of the TSC Alliance, researchers can be more efficient, even if it feels like it’s taking a long time.”

Iris has been a beneficiary of the last two decades of research, specifically when it comes to treating her TSC manifestations. Diagnosed at two and half years old because of focal seizures, her parents sought medication to help control them. Twenty-five years ago, that meant a prescription from her U.S. physician, yet needing to get vigabatrin from another country. This went on for 20 years, all the while her family incurred the cost out-of-pocket, until vigabatrin was approved by the FDA in 2009. For them, the cost and inconvenience were worth it to control her seizures.

Iris’s kidney involvement means she’s also on everolimus, an mTOR inhibitor that is currently preventing Iris from going without one of her kidneys.

“They attempted an embolization which was unsuccessful. Without these drugs I’d be without a kidney, so that’s been really impactful for me,” Iris says.

As an adult, Iris has experienced various TSC-associated neuropsychiatric disorders (TAND), including anxiety and depression, and as more information has become available, leaning on the TSC community has been an especially helpful resource.

“Growing up, TAND was not a thing. No one knew about it,” Iris says. “Having this information now, I know that this is actually highly associated with TSC, and we should be talking about it. Understanding that you’re at higher risk and there are other people with TSC experiencing this . . .  it’s just great to have an understanding of the experience, and it helped me want to get more involved with the community to know I’m not alone.”

Iris has been seizure-free for more than 25 years, which has allowed her to live an independent life—a gift, yet one riddled with questions about the future. Like many adults with TSC, Iris has some big questions yet to be answered.

What are the side effects of these medications long-term?

How do we understand and treat TAND manifestations?

What can I expect as an aging adult with TSC?

Is planning for a family an option? Is it safe?

“There are a lot of questions we haven’t answered yet.”

Iris, and many other adults with TSC, are waiting for these answers. Researchers are trying to find out. And we need your help to discover them.

Seraphina

Seraphina, daughter of Lesley and Alex Holmes, was one of the first babies treated with sirolimus in utero. After an anatomy scan at 20 weeks pregnant, Lesley and Alex learned Seraphina had tumors growing in her heart. Subsequent scans revealed they were growing quickly, and with each passing week her heart function continued to diminish. Lesley took to her own research seeking options for her daughter. And she found something.

“I came across some literature in a medical journal discussing basically our same situation,” Lesley says. “They had used a medication called sirolimus to shrink the tumors.”

That discovery became Lesley’s new fixation: shrink the tumors. By advocating for herself and the life of her daughter using the single published paper from Johns Hopkins as fuel, Lesley was able to start sirolimus and within 10 days, the tumors started to shrink. Seraphina’s heart function remained stable throughout this treatment, and she was able to be delivered at term.

“We have seen first-hand how research and advancements in treatment can literally save somebody’s life,” Lesley says. “Seraphina is a walking example of what it means to have treatment options.”

Yet the complexity of tuberous sclerosis complex (TSC) means that tackling one difficult diagnosis, while celebratory, is not the end of the road. With the involvement of so many organs, TSC manifestations can appear at any time. Seraphina’s care, like all TSC individuals, requires the support of several knowledgeable specialty physicians to monitor her organs for any new or evolved symptoms.

One of the most challenging aspects of TSC is management of seizures. While Seraphina was fortunate to not endure a heavy seizure burden before age 4, her seizures returned in 2023 and were difficult to manage even with multiple medications. Because of that, Seraphina underwent brain surgery in March 2024 in the hopes of bringing her seizure freedom.

“We just have to keep pushing that ball forward to find new and more effective treatments, especially for seizure control and improvement of developmental outcomes,” Lesley says. “Today, Seraphina is a happy, healthy five-year-old. We continue to be passionate advocates for Seraphina and the TSC community, and we know firsthand how advancements in treatments and research can make all the difference for those impacted by TSC.”

Stella

Four brain surgeries, four tried and failed seizure medications and mTOR inhibitors, still haven’t yielded the hoped-for results for the Olear family. Stella, 15, continues to live with uncontrolled seizures, autism and developmental delays. She has also benefited greatly from parents, Matt and Amanda, who have fought for every avenue of treatment available to her. While they have exhausted many options in pursuit of seizure control, they fully recognize the benefit of even having options to begin with.

“Twenty years ago, we didn’t have all of those options,” Matt says. “To me, her case demonstrates so clearly why, even though a lot has been learned about TSC and epilepsy in Stella’s lifetime, there’s still so much that needs to be done.”

And not just for the sake of tuberous sclerosis complex (TSC) research. For Amanda, emphasizing the vast application of TSC research among other, more common diseases and disorders is the key to propelling impactful research. More donors, more researchers and more knowledge are what will yield results for individuals with TSC and their families, cancer patients, those with autism and intellectual and developmental disabilities and people affected by so many more diseases.

The Olears recognize Stella may not benefit as much as other individuals with TSC at this point in her life. To make a difference for her, Matt points out, there needs to be a much greater understanding of the brain and how it functions, plus a way to re-engineer where there’s been damage. While that may be a long way off, it doesn’t stop the Olears from advocating for continued TSC research.

By speaking at various events in the DC area, both on behalf of the TSC Alliance and through other avenues as well, Matt and Amanda willingly share their story and their plea to young neurologists, researchers and the medical community at large. Their hope is their story ignites an urgency in TSC research for Stella, and for all TSC families who still need more options.

“It’s important for people who are not touched by TSC to give to TSC Alliance research because this is a linchpin disease,” says Amanda. “By giving to TSC, a disease that impacts the brain, skin, heart, kidneys and lungs, you can leverage your money in ways that are not limited to improving the lives of individuals with TSC. The TSC Alliance has proven itself to be a good steward of research funds, which have led to discoveries that benefit everyone. Why not give and amplify the impact of the gift?”

You can help families like the Olears and help spur research toward a greater understanding of TSC and connected disorders. Learn how you can amplify the impact of your gift by giving to TSC research. Click here for more information on how you can give to the 50 Forward Fund and change the future of TSC.