The number of Americans living with a rare disease is estimated between 25 to 30 million.
With Rare Disease Day coming up this Thursday, one woman is sharing her experience.
In 2012 Brittany and Jarrett Pridal welcomed their first child Braylee into the world. Soon after being born she was screened due to low blood sugar and a fever.
“I still remember the following day when the state lab called us because we were still in the hospital because she was having issues, saying we needed to be seen in the nearest emergency room, our daughter needed to be evaluated immediately,” Birttany Pridal said.
Braylee was diagnosed with LCHAD, a rare condition preventing the body from converting certain fats to energy. The disease breaks down muscle tissue, causes heart problems, breathing difficulties, coma and sudden death.
“Our bodies rely on fat for energy and if you have a condition where you can’t break it down then you need to get fed more often,” Dr. Laura Davis-Keppen said.
Doctors say this rare disease affects about 100,000 to 150,000 people in the U.S.
Davis-Keppen says Braylee is the only patient in South Dakota doctors have ever diagnosed with LCHAD.
“I sat there and cried. I mean my husband was crying, I was crying, the pediatrician was crying. It was very emotional,” Pridal said.
At the age of 5 Braylee caught a virus that landed her in the hospital. During her stay, she suffered cardiac arrest. Her already weakened heart became weaker.
“When we would talk to her she was opening her eyes, and I was holding her hand and I said Braylee if you hear mama, squeeze my hand and she would squeeze my hand,” Pridal said.
Hours later Braylee passed away.
“She had a massive stroke and her whole right side of her brain was brain dead so that’s when we decided it was time to stop and Braylee needed to meet Jesus,” Pridal said.
Since losing Braylee in 2017 Pridal has made it her mission to raise awareness about rare diseases.
“If we can help one person know that they’re not alone, one more doctor to be more intrigued to learn about it, one more geneticist to go into that field, we’re helping something,” Pridal said.
Davis-Keppen says thanks to the newborn screen LCHAD was caught and urges other parents to take part.
“It just like immunizations. Why would you not want to take care of your child?” Davis-Keppen said.
“Our end results unfortunately isn’t the greatest and I just feel that Braylee’s story is something that we need to share,” Pridal said.
To learn more about LCHAD or rare diseases in general, click here.