FLORENCE, S.C. (WPDE) — This week, the Food and Drug Administration (FDA) approved the first-ever treatment for people living with an extremely rare mitochondrial disease.
Thymidine kinase 2 deficiency, or TK2D, is a rare, progressive, and life-threatening disorder that causes severe muscle weakness.
Six-year-old Jeremiah of Florence was diagnosed when he was just eight months old. The disease makes it difficult for him to walk, eat, and even breathe on his own.
But this week, for the first time, there’s new hope.
On Monday, a biopharmaceutical company announced FDA approval of Kygevvi, a powdered medication designed to treat both adults and children who develop symptoms before the age of 12.
“I honestly just cried,” Aneesa, Jeremiah’s mother, said. “It was one of those moments where I didn’t quite have the words, and I literally just cried. I was extremely thankful, just speechless to be quite honest.”
Until now, there had been no FDA-approved treatments for TK2D.
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Jeremiah has been part of a clinical trial for the past several years, helping lead the way to this breakthrough.
“Hopefully this treatment increases access to those who may not have been a part of the clinical trial so let’s just say somebody was born and of course diagnosed with tk2d instead of them having to find a clinical trial they now have access to the research medication that Jeremiah and a few others were on so it improves the access to medication in order to help those with tk2d to thrive,” Aneesa said.
According to Rare Disease Advisor, only 107 cases of TK2D had been reported worldwide as of 2018.
Clinical studies show patients receiving the newly approved drug experienced an 86% reduction in the overall risk of death from the start of treatment.
Jeremiah will continue taking Kygevvi three times a day, his mom says she’s already seen progress.
To learn more about Jeremiah’s journey and this new breakthrough, search “tk2d” on our website.