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Kansas City Families No Longer Face Rare Diseases In Isolation

Theo Ridenour, center, with his siblings. Theo has a rare disease called Rubinstein-Taybi Syndrome.

When Kelly Ranallo's first child was born 21 years ago, something seemed wrong, but no one could put a finger on it. When Ranallo’s second child was born, the Overland Park mother's feeling was even stronger.

"(Our pediatrician) gave that look that no mom wants to see, which is 'I'll be right back. I'm going to go and make a couple phone calls, then I'll be back, and we’ll talk about this,'" Ranallo says.

Both of Ranallo's daughters were diagnosed with a rare disease or syndrome. At the time, when families received a frightening diagnosis they were often left alone to hunt for specialists, search for others with the same diagnosis, and fight insurance companies.

After that experience, Ranallo knew she needed to step up and work to change that. In 2015, Ranallo founded The RareKC Project, which works toward the creation of a center for excellence for rare diseases in Kansas City. It would be the first of its kind and would address the difficulties that families face.

Allie, Ranallo's oldest daughter, was not diagnosed until she was eight years old. Katie was still in the process of being diagnosed when she died at five months old.

"It's challenging because a lot of the time your doctors don't see the symptoms. You already get deemed a little bit crazy and maybe a hypochondriac," Ranallo says. "We become those hypervigilant moms. Those moms that are looking for something."

But 30 million Americans are diagnosed as having one of the 7,000 known rare diseases — more than AIDS and cancer combined. Each disease is, by definition, uncommon, but because there are so many, having one is not.

Credit RareKC
Allie Renallo was eight and a half when she was diagnosed with Turner's Syndrome.

Like Ranallo's children, half of the diagnosed population is made up of people who are very young — however, the average time it takes to be diagnosed is eight years. Three out of ten children with a rare disease don't live until their fifth birthday. When a disease is unusual, most doctors don’t know the signs and symptoms, let alone the name of it, and the clock is ticking.

Janell Ridenour considers her family lucky because they did not wait long for her son Theo to be diagnosed. At week 20 of her pregnancy, an ultrasound revealed a heart condition for which he’d need immediate surgery to survive after birth.

A heart condition is only one part of Rubinstein-Taybi Syndrome, which Theo has, but its presence made physicians examine him more closely than they otherwise might have. Still, it's been tricky for Ridenour's family to navigate the healthcare system, even though she was a pediatric physician’s assistant for 10 years and understands more than the average parent.

"One of our hardest parts of being a parent like this is that you don’t know what services are available to your children. Being a healthcare provider, I'd already kind of been in the mix, even if it had been on the other side," Ridenour says.

Ranallo says RareKC helps. "The families come to us, they find us online and we'll be able to help them navigate their journey."

That means connecting families with others who have a similar diagnosis. But the rarer the disease, the harder that is to do. Ridenour says she thinks only two other people in the Kansas City metro have Rubinstein-Taybi like Theo. She says the knowledge base is small among providers as well as families, so they've joined a Facebook page where they're able to share information with people all over the world.

Though RareKC doesn’t have members, it has built a network of nearly 500 stakeholders, patients, physicians and researchers, who meet annually at the RareKC Summit to share information and work toward creating the center for excellence.

"Our goal is for Kansas City to be the fly-to state for rare disease," Ranallo says. "The innovation is here, we just have to connect all the dots then shine the national spotlight on us so that the rest of the world knows that we’re here."

RareKC Summit, 8 a.m.-3:30 p.m., Monday, March 4 at the Ewing Marion Kauffman Foundation, 4801 Rockhill Road, Kansas City, Missouri 64110. Registration is required.

Kelly Ranallo and Janell Ridenour spoke with KCUR on a recent episode of Central Standard.

Follow KCUR contributor AnneKniggendorf on Twitter, @annekniggendorf.

Anne Kniggendorf is a staff writer/editor at the Kansas City Public Library and freelance contributor to KCUR. She is the author of "Secret Kansas City."
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