Hosea Rosenberg, a restaurateur and winner of Bravo's "Top Chef," is trying to find a cure for his daughter.
Rosenberg and his wife started a nonprofit to fund more research.
This is their story, as told to Alisa Scerrato.
Sophie is our first and only child. She is sweet and funny and always looking for ways to make me and my wife laugh. She loves music, creating art, and cooking. Sophie and I often cook together, and she even loves to clean up afterward. My wife, Lauren, and I are moved by Sophie's optimism and her empathy for others. On most days, you can see Sophie carrying around her doctor kit, taking care of her dolls.
Until Sophie was 15 months old, everything seemed normal. But then something happened. She wasn't able to walk. Lauren and I tried to encourage her to get up and start walking, but instead, she would whine. She seemed as if she were in pain.
After receiving negative results in genetic microarray screening and visiting a variety of specialists, Sophie was diagnosed with juvenile idiopathic arthritis. We started treatment, and a week before her second birthday, Sophie started to walk.
We were thrilled. But her X-rays showed that the bones in her feet were developing abnormally, so her doctors kept scratching their heads.
The initial diagnosis was wrong
We thought we were in the clear from a genetic disorder. But more genetic sequencing found her true diagnosis: an ultrarare disease called multicentric carpotarsal osteolysis syndrome. Sophie is one of 30 to 50 people worldwide with MCTO, and it's untreatable.
We were told she would get progressively worse as she grew up; her bones would continue to disappear or never form properly, and she might be at risk of end-stage kidney failure and in need of a transplant.
At first, I thought this had to be wrong. How could our daughter be among so few people in the world with this condition? The odds didn't make any sense. And then it was despair and worry for a long time. But my wife and I decided to trade hopelessness for action.
People are stepping up to help, and it's nothing short of heartwarming
We started the nonprofit foundation Sophie's Neighborhood. We had our first fundraiser on Sophie's third birthday on May 30, 2020, and raised $120,000 in a virtual silent auction over one weekend. The outpouring of support was nothing short of extraordinary.
It brought me to tears to see how quickly so many people jumped in to help. Many of my colleagues from across the country, as well as many fellow "Top Chef" contestants, auctioned themselves off to cook with.
Our community in the Boulder, Colorado, area stepped up with the fundraising efforts, including an 11-year-old girl, Dana Perella, who bakes cookies to raise money for rare diseases through her nonprofit, Cookies4Cures. It has been truly heartwarming to see this kind of decency in humanity.
While raising funds for research to find a cure, we are still desperately racing against the clock, and there are still a lot of unknowns. Sophie's X-rays continue to show bone dissolution. Her kidney medication is helping to buy us time, but it is not a long-term solution. Children with MCTO who have been on this medication can still end up on dialysis and in need of a transplant down the road.
We're also worried about Sophie getting COVID-19 because her immune system is suppressed. Sophie also can't keep up physically with kids her age. She loves the playground, but she can't get herself up on many play structures without the help of an adult.
My advice to parents who are having similar head-scratching moments with doctors is to immediately see a geneticist. Get whole-exome or whole-genome sequencing to see the full picture. Do more research during pregnancy on what you are testing, how effective those tests are, and ask your doctor all the questions you have.
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