1 in 250,000: Local Family Wants Better Odds for Kids With Rare Disease

This is part of a series on West Chester entrepreneurs. Know someone who’s taking an innovative approach to the mantra, “Follow your dream?” I’d love to share their story. Thank you to Benchmark Federal Credit Union for making this expanded content possible.

As an expectant parent, what do you do when you learn that your unborn baby has a rare disease that almost no one, including the doctors who diagnosed him, knows much about? You hear tales of a scary future - learn all the worst-case scenarios - and then, slowly, you piece together the whole picture.

It all started with Nathanael

Born on Jan. 25, 2006, Nathanael Ogden weighed 8 lbs and measured 21.5 inches long. Other than polydactyly (Nathanael had 14 fingers and 12 toes at birth) and the early diagnosis from the CHOP doctors, there were few indicators that this precious baby boy had Bardet Biedl Syndrome (BBS). BBS is a highly variable cilia disease with symptoms ranging from retinal degeneration to obesity to kidney failure. In many cases, the disease will go undiagnosed for years leaving parents struggling to explain the random collection of symptoms. 

“It is 50 times rarer than the definition of rare [used for diseases],” Nathanael’s father Tim Ogden told me.  BBS affects roughly one in 250,000 people worldwide. Since Nathanael’s diagnosis, Tim, who runs an economics research center at NYU, has spent countless hours researching and educating people on the disease. 

“That’s what rare disease parents do,” said Tim. In 2013, Tim incorporated the nonprofit BBS Foundation to help him and hundreds of other parents advocate on behalf of their kids.

“From that moment [of diagnosis], we have been deeply involved in trying to do the best we could for Nathanael,” said Tim. 

The BBS Foundation is a nonprofit organization whose mission is to advocate, educate, and empower members of the BBS community. With more than 20 genes associated with the disease and only two centers of excellence in the U.S. employing specialists with knowledge of the disease, it can be hard for parents to get an accurate diagnosis let alone credible information about what they can expect as their children grow and mature with the disease. 

“That is a big part of what the foundation does, we advise those who don’t have access,” said Tim, who shared he was inundated with horror stories of worse-case scenarios after first receiving Nathanael’s diagnosis. “I remember what I was told and I don’t want parents to go through that,” said Tim. 

Not Quite Normal

Nathanael, who graduated from Henderson last year with honors, has in many ways defied expectations. While he described his case as “very mild,” he can’t claim to have had a completely typical childhood either. 

“I think it was normal and not normal,” Nathanael said. Unlike most teens, he has to monitor his kidney function and watch his weight - obesity can be a common symptom of the disease - but the loss of his vision in middle school was the biggest disrupter.

“That makes it so there’s no chance for me to drive, which is not normal,” he said. 

He also had to learn Braille and to use a screen reader that turns text into speech. He had to petition the College Board to allow him extra time on his exams. But in true teenage fashion, he also learned how to turn a sanctioned “club” into an excuse to hang with friends and managed to participate in the ultimate teenage right-of-passage - graduation. 

Nathanael took and passed 11 advanced placement exams and graduated with honors. He will attend Haverford College in the fall as a computer science major. To prepare him for the experience he is currently completing a gap year at the Chester County Intermediate Unit (CCIU) Transitional Living Program.

The program helps special needs students prepare for post-graduate life. Working in groups of four, students meet at the CCIU’s fully furnished apartment and work together to complete household chores, budget for living expenses, and build independent living skills like how to use public transportation, shop, and complete a job application. 

Once he completes his program, Nathanael will be settling into an on-campus apartment a good 45 minutes from home.

Preparing more for a brighter future

Earlier this month, the BBS Foundation received an $800,000 grant from the Chan Zuckerberg Initiative. According to their website, Mark Zuckerberg and his wife Pricilla Chan, founded the the Chan Zuckerberg "in 2015 to help solve some of society’s toughest challenges.” This includes eradicating disease and improving education. 

Tim and team plan to use the money to expand the Foundation’s outreach efforts. They would like to see more people diagnosed. They also want to create more resources for those affected and their families, and better connect patients to clinicians and researchers.

Nathanael would like to see some of the funds used for research and to “help the [BBS] community.” 

In a world where little has been done to date, the possibilities are vast.  

“There are a lot of opportunities to do things to make life a lot better for those living with the disease,” said Tim. 

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