Paul’s Story: Living with Rare Disease

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Rare Disease Day- Paul-s Story 5-45AM_46384864-159532

Rare diseases affect more than 30 million Americans, or 1 in 10 people. With more than 7,000 different rare diseases out there, they often go undiagnosed.

Monday February 29th  is Rare Disease Day. A rare disease is classified as affecting fewer than 1 in 200,000 people in the US. In the case of the Rodgers family, there are only 150 documented cases worldwide of Macrocephaly Capillary Malformation. It’s what their son, Paul, suffers from, but they tell me getting to that diagnosis was the hardest part and now that they finally have it things are taking off.

9-year-old Paul has a need for speed. But just a year ago mom, Jennifer Rodgers, says they didn’t think he’d even be able to walk.

“He did just start walking January 26th which we were told he would not do so that’s pretty big.” Rodgers said.

Rodgers says doctors told her Paul had dwarfism when she was pregnant with him.

“When the genetic test came back, it was negative.” Rodgers said.

Doctors then tossed around ideas and different diagnoses for the first few years of Paul’s life–but Rodgers says none of them seemed to add up. Then, despite many unanswered questions, heartache and frustration, through her own research, she stumbled upon a group on social media.

“I did my FBI Mom research and it took one picture and I was like that, Paul has that.” Rodgers said.

The doctors confirmed a mother’s intuition: Macrocephaly Capillary Malformation, or MCM, a brain overgrowth syndrome. The genetic disorder causes a larger head and some developmental setbacks.

“It’s one of those things where you can either smile or cry.” Rodgers’ boyfriend, Joe Beyerl, said.

But, just getting those answers has made all the difference for the Rodgers family.

“His vocabulary is increasing daily…he has sentences. I thought he would never tell me ‘I love you’… he tells us he loves us all the time.” Rodgers said.

Paul is now known as “the mayor” at school, waving, and even saying hello to everyone he encounters.

“I don’t know what’s to come…um only good things for Paul.” Rodgers said.

Paul has a Facebook page, called “Paul’s World” where his family shares his milestones and connects with other families going through similar journeys. You can give him a “Like” and  follow his progress here: https://www.facebook.com/Pauls-World-992165060842784/. To donate and support Rare Disease Research & Awareness you can visit this website http://rarediseases.org/.

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