We had to fight for everything for Barry. We had to go to court to get a special shower chair, bed, and nursing hours.
Before her younger brother Barry died in 2015, Alexis made him a promise – that she would find out what robbed him of his life. Four years later, working as a clinical research specialist at Boston Children’s Hospital, she did. By having her brother’s whole exome sequenced, Barry was diagnosed posthumously as the 106th person in the world to be diagnosed with Jordan’s Syndrome, or a mutation in the PPP2R5D gene. Alexis, now 26, is determined to find a cure for the syndrome within her lifetime and is entering a masters program at NY Medical College this fall to help do just that.
Alexis’ story in her own words:
“My younger brother Barry was born when I was two. At that time, he was diagnosed with an unspecified neurological condition that left him unable to walk or talk and with a host of medical issues. But Barry was also the most smiley, happy, boy so he and I became very close. Just as he could calm me down, the doctors would call my visits “The Sister Test,” which would consist of me crawling through the tubes and wires of hospital machinery, to climb into bed, and softly sing to Barry. If this couldn’t lower his heart rate, then we knew we were in trouble. Barry’s perseverance to simply stay alive, and live the life he loved so much, was truly inspiring. It pushed me to go into medicine and one day, hopefully, become a doctor.
When Barry was born in 1998, the doctors told us we may never get a diagnosis. But as he got older the testing got more sophisticated, and we came close to the answer a few times. However, in 2015 at age 16 Barry passed away. So the search for the answer of what was causing his ailments seemed to take a back burner of sorts. Then I graduated college in 2018 and began working for Barry’s former neurologist, on his research team. I started working with a patient who reminded me of Barry, which prompted Dr. Darras and I to discuss how Barry’s case was a mystery. It was still important to me to get the answer, to know if I could pose a risk to my future children. Dr. Darras gave me advice on how to reopen Barry’s case, and 3 months later I found out that Barry was the 106th person in the world to be diagnosed to be diagnosed with Jordan’s Syndrome, or a mutation in the PPP2R5D gene
We had to fight for everything for Barry. For example, we had to go to court to get a special shower chair, bed, and nursing hours. Doctors had to exaggerate Barry’s diagnosis to get him a chest vest, to help him breath because insurance would only cover it for a specific indication. We had governmental insurance for him, but also had to have private insurance to cover extra costs such as braces, physical therapy equipment, and modifications to our house to make it more accessible for him and us to take care of him.
Sharing Barry’s story is not only healing to me, but also comforting that his memory will live on, by helping other people.”
