Mother-Daughter Team Advocate for Daughter's Rare Disease

Colleen Johns faces an ironic dilemma. Her 8-year-old daughter Stephanie has a rare disease that causes tumors all over her body and comes with the constant risk of mood swings and seizures. However, many people have never heard of Tuberous Sclerosis Complex (TSC) which is making it especially difficult for Colleen to get any donations to go towards improving the lives of people who suffer from it.

“No one knows about this disease,” said Colleen who had to pull the plug on a fundraiser scheduled for early May because she couldn’t secure corporate backing for the event. “The federal dollars aren’t enough.”

Last March, when Stephanie was just 7, she stood alongside Rep. Mike Fitzpatrick, R-Pa. on the House Floor to ask for funding for TSC.

“She’s still very proud of it,” said Colleen. She still considers herself a ‘celebrity.’”

TSC is a genetic disorder that causes non-malignant tumors to form in many organs, including the brain, heart, kidneys, eyes and skin, according to the Tuberous Sclerosis Alliance. As a result of those tumors, many people with TSC suffer from seizures. TSC has also been linked to autism spectrum disorder.

Stephanie’s last seizure happened when she was just 3 ½ years old. Even though that was more than 4 years ago, her parents still worry about the possibility of another.

Thanks in part to Stephanie’s efforts,  Congress passed the bill to give $6 million to the Tuberous Sclerosis Research Program (TSCRP) for 2015 bringing the total to $59 million to date since Congress first helped fund TSCRP in 2002.

March's early snow storm kept the Johns family at home in Narberth and out of Washington like they had orignally planned but Fitzpatrick was there for them. Fitzpatrick called on Congress and was the lead Republican sponsor for the 2015 Dear Colleague letter, asking for TSC funding for 2016 just like he had the previous year.

Fitzpatrick, who is also a member of the Rare Disease caucus is now working with Democrat Congresswoman Loretta Sanchez to secure those funds and advocate for finding cures for such diseases and is also calling on efforts to bring new researchers to the cause.

"Beating TSC isn't about party or politics," Fitzpatrick said regarding the bipartisan effort. "It's about kids like Stephanie and their families and ensuring we're sure that vital scientific proposals are not left unfunded."

In the past few years, fundraising efforts have gone digital making it more convenient for people to request and give donations on sites like Kickstarter and GoFundMe.

"It only takes a few minutes to set up your campaign and start raising funds," said Kelsea Little from "Our built-in social media sharing tools make it easy to reach out to family and friends to request support."

The site has raised over $830 million from some eight million donors since GoFundMe went live back in 2010. With approximately 10,000 new campaign pages created everyday though, it may be difficult to choose which cause to donate to and some campaigns could be left under-funded if they don't get enough social media traffic.

Colleen is committed to making sure TSC does not go unfunded and as a new member of the Board of Directors, the Governance Committee and the Development Committee for the TS Alliance, she's widening her approach. For 2015 she is focused on raising awareness about TSC and getting people to donate money that would go towards improving the lives of people who have TSC. Despite having to cancel the first event she remains hopefull and plans to have an inaugural fundraiser by the end of this year or early next.

Contact Us