Families affected by Tuberous Sclerosis Complex to gather in Annapolis for Rare Disease Day

Posted at 6:21 AM, Feb 28, 2018
and last updated 2018-02-28 18:02:29-05

In her four years of life, Brynleigh Shillinger has already endured countless hospital visits and two brain surgeries.

"Everyday is a blessing," said Lauren Shillinger, Brynleigh's mom. "We try to live our life to the fullest and have to manage this disease every year."

Brynleigh was diagnosed with Tuberous Sclerosis Complex, or TSC, at nine months old. It causes tumors to grow on vital organs like the heart and brain. Brynleigh had surgery in 2016 to remove some of the tumors.

"There's no cure for TSC so its means for our family travels to Cincinnati Children's Hospital every year so they can scan all of her organs and treat her tumors and the disease as it progresses," Schillinger said.

According to the Tuberous Sclerosis Alliance, TSC occurs in one out of every 6,000 births in the U.S. It is a genetic disease that can be either passed down from a parent or result in a gene mutation.

Since her daughter's diagnosis, Shillinger has become an advocate for her and spreading awareness about TSC. Since so few people are diagnosed with TSC, Shillinger says its difficult to find treatments and often involves lengthy, tedious conversations with insurance companies.

"There are very good treatments but the costs, its very high. There has to be specific documentation for a child to take those medications. There's a lot of red tape and things holding families back from getting their kids the critical care and treatment they need," she said.

Shillinger has found an ally in Victoria Graham, a local beauty queen who currently holds the title of Miss Allegany County. Graham has Ehlers-Danlos Syndrome (EDS), a rare disease that affects the body's connective tissue. She's had 10 surgeries including a fusion of her spine, which has left a 25 inch scar down her back.

"The biggest thing that we can do is stand up and talk about it because the more that we talk about it, we realize that our stories are not rare," Graham said.

Graham's mother, Mary Beth Graham, also has EDS but not to the extent her daughter does. She says its exhausting dealing with insurance companies or doctors who don't understand Victoria's disease. That's where a support system is vital.

"I think as caregiver you need that support of other caregivers because its really frustrating and its scary when your child is going through something like this and you're dealing with it as well," Mary Beth said. "Its nice to have other parents to support each other."

And Victoria is going to be in Annapolis on February 28 supporting the Shillingers and other TSC families on Rare Disease Day. The families will be sharing their stories and meeting with lawmakers, hoping to get more funding for this rare disease.

"Nobody knows what the journey is like until you're in it yourself, so to have someone like Victoria and her family, we can then rally together and we're stronger together," said Shillinger.

To learn more about an upcoming fundraiser walk to support the Tuberous Sclerosis Alliance, click here.