Eighth-Grader Fights for Himself & Others with Rare Genetic Syndrome
Eighth-Grader Fights for Himself & Others with Rare Genetic Syndrome
Mr. Joe DiAntontio (left,) Nathanael Ogden, Tim Ogden
Nathanael Ogden is your average 13-year-old. He has a younger brother, Jackson. He likes to read and play Dungeons & Dragons, enjoys board games and logic puzzles, and is running for vice president of his eighth-grade class at Peirce Middle School.
He also has something the majority of his peers don’t have: a white cane. Nathanael has lost 95% of his vision over the last 10 years. But there’s one more important thing he has: the spirit of a fighter.
Before he was born, Nathanael was diagnosed with Bardet Biedl Syndrome (BBS,) a rare genetic disorder.
Never heard of Bardet Biedl Syndrome? You're not alone. It is a rare syndrome that affects about 1 in 250,000 people in North America. According to bardetbiedl.org, people with BBS have a defect in the way their cells communicate with each other. It's a complex syndrome with a wide range of symptoms and a lot of variation from person-to-person. However, usually, people with BBS have low muscle tone, impaired kidney function, hampered senses, and vision loss.
Nathanael's parents, Tim and Catherine Ogden, first became aware that something was wrong with their baby during a 26-week ultrasound. The scan revealed that his kidneys were three times larger than they should have been, which Tim says is also indicative of a fatal kidney disease.
"We were told he wasn't going to live,' says Tim Ogden.
The couple went to Children's Hospital of Philadelphia for a follow-up and doctors concluded that the baby most likely had BBS.
"They couldn't say definitively, but they were like 'Yeah, we think we know what this is.' Honestly, it was a huge blessing because most people will spend years trying to get a diagnosis for their child. It made a big difference."
Enlarged kidneys weren't the only symptom of BBS for Nathanael.
"Cilia are essentially the radio antennas of our cells. They are responsible for sending and receiving signals from cell to cell," explains Tim.
"When they break down, messages get garbled, or they don't get passed and, his kidneys didn't stop developing. He was also born with 24 digits for the same reason. His body made a pinky but didn't receive the message to stop, so it made another one. He was born with six toes on each foot, and seven fingers on his left hand."
Nathanael also had to deal with poor muscle development, speech problems, and dietary issues. All things he works on with pure grit and determination, and the aid of occupational, physical, and speech therapists. Nathanael has also learned to read braille and how to use a cane to help him navigate while walking.
"You never find him feeling sorry for himself or discouraged. It's always just 'This is what I have to do. This is my next task.'" Tim says of Nathanael.
And, preparing for the next task he is. On Sunday, September 29, Nathanael and Tim will tackle the third annual Rocky Ride for Bardet Biedl Syndrome. The trek begins at Uptown Worthington in Malvern and winds through the Chester Valley Trail to the Schuylkill River Trail concluding at the Philadelphia Museum of Art. And, of course, the journey would not be complete without a triumphant run up the famous art museum steps.
The money raised from the Rocky Ride goes to support the Clinical Registry Investigating Bardet Biedl Syndrome (CRIBBS.) The registry consists of slightly over 500 people in the world diagnosed with BBS and helps researchers to develop effective and targeted treatment for those with the syndrome.
In the first year, the Rocky Ride raised $25,000. In year two, it raised nearly $35,000.
Funds raised from the Rocky Ride also support gene therapy research at the University of Iowa.
"Researchers have identified 23 genes associated with BBS. When research first began, there was only one. Four of them account for roughly 80 percent of people with symptoms of BBS. Those four genes are now part of a standard genetic testing panel which allows for a much earlier diagnosis. The earlier the diagnosis, the earlier services can be secured, and a plan can be put in action," says Tim.
"All of the research that has been done is exciting. When Nathanael was born, it felt like there was nothing and now, what we've been able to do over 13 years...It feels like there's a lot of hope for people now."
Preparing for the task of riding 30 plus miles is a challenge. Tim and Nathanael spent a good part of the summer in training. They use a tandem bike for each of their training rides, which last anywhere from 15 to 25 miles per trip. Physical activity is a crucial part of Nathanael's care. Another symptom of BBS is the body's inability to recognize when it is full from food, so his parents keep a close eye on his diet and physical activity. Nathanael takes medicine to control his appetite.
"We've ridden a total of 165 miles since August in preparation for the Rocky Ride," says Tim.
For Nathanael, he enjoys the time with his father and feels a strong sense of accomplishment. "I like being able to do the bike ride itself. It's nice to be able to do exercise such as this," says Nathanael.
One hundred sixty-five miles is a lot of ground to cover. How does he find the energy?
"I don't know," he laughs.
All of Nathanael's senses are degenerating to some degree, with vision loss being the most severe. According to his father, in first grade, he could see. Nathanael is now legally blind. He does the majority of his schoolwork on a computer screen with assistive technology.
"All of it has to be magnified and high contrast. It gets harder and harder, and then the question is - at what point is it more work to have him be able to see the screen as opposed to transitioning him to braille?" says Tim.
The Ogdens are humbled by the community support they have received.
"The biggest thing for anyone in the community to do is just to be there. A big part of having a child with a rare disease is the isolation. The feeling that no one knows about this, that no one understands," says Tim.
Families from across the West Chester Area School District are joining them for the ride.
"We're going to be barreling down the Schuykill River Trail - all 30 of us in red t-shirts to show that Nathanael doesn't have to do this alone. It's a big deal."
One repeat rider is Joe DiAntonio, Nathanael's principal at Peirce Middle School. DiAntonio will be riding with his son, who is a seventh-grader at Stetson Middle School.
"Nathanael is so special to our school," says DiAntonio. "He is everything that is right about Peirce. We want to support him in any way that we can. His attitude is so positive and the way he interacts with people. You just want to be around him."
Despite Nathanael's positive attitude, do Tim and Catherine ever question why this happened to their child?
"Absolutely. You can't get away from that. He lost the lottery. It was this totally bizarre thing that my wife and I had these genes that we didn't know we had. It's hard as a parent. You always want the best for your child."
For Tim, it was important to find something that he could do with his son and for other families with BBS. He helped start and is currently the president of the Bardet Biedl Syndrome Foundation, which provides support for families affected by the syndrome in North America and around the world.
"We're not really raising money for Nathanael. We are raising money that's going to benefit people in the future who have this syndrome and so he gets the feeling that there is something he can do. It's not about what he can't do, but what he can do to make the world a better place and help others," says Tim.
Tim and Nathanael drew inspiration for the Rocky Ride from the Rocky movies. The main character's attitude of determination is ever-present in Nathanael.
"Rocky doesn't win that first fight, but he still does it," says Tim. "That's the message that I want for Nathanael.
Nathanael's moto? "Keep pushing through it and try to find ways to be happy."
For more information on Bardet Biedl Syndrome, or to donate to the Rocky Ride, visit www.bardetbiedl.org/rockyride