RANKIN COUNTY, Miss. (WLBT) – The Food and Drug Administration is holding a drug in the balance that one family says improves the lives of those with rare diseases.<\/p>\n
One Rankin County family says the medication Elamipretide has given one teenager the strength to be a normal kid, and they don\u2019t want that taken away.<\/p>\n
\u201cIt\u2019s helped a lot. Before, I couldn\u2019t go anywhere and keep up with my friends,\u201d said Christopher Pena. <\/p>\n
The 17-year-old suffers from Barth Syndrome, a rare metabolic disease that impacts the muscles and immune system. He takes Elamipretide. The Food and Drug Administration has delayed approval after years of trials.<\/p>\n
Video shows Christopher slowly struggling to climb stairs before the drug, and this month\u2019s video shows him easily walking up stairs during a recent ceremony at Brandon High School.<\/p>\n
\u201cThe FDA is making it where there\u2019s a chance for us not to be able to take it,\u201d said Christopher. \u201cIt\u2019s gonna make it where a lot of things I\u2019m able to do now, can\u2019t like I can\u2019t do them anymore.\u201d<\/p>\n
When Christopher was born, his mother, Kristi Pena, said doctors said there was no hope for him. He was in hospice care before his first birthday.<\/p>\n
In November, he began Elamipretide, a treatment she said changed everything. Now, the vigilant mother is pleading with the FDA to work with Stealth Bio Therapeutics to approve the drug. She said the medication enables her son to now live an active life.<\/p>\n
\u201cNot long after starting that drug, he noticed that he was able to jump with both feet leaving the ground, which is another thing he\u2019s never been able to do, and I can\u2019t credit that to any other reason but this medicine,\u201d said Kristi Pena.<\/p>\n
Her sister is Amy Wilson. Wilson\u2019s son also has Barth Syndrome and was in the clinical trial for Elamipretide until he developed a minor rash.<\/p>\n
\u201cHe is not on it now. His health has declined. He now has a feeding tube,\u201d said Wilson. \u201cHe\u2019s lost significant amounts of weight. His kidney function has declined to the point where he didn\u2019t even feel well enough to get out of the bed and come to this interview.\u201d<\/p>\n
The family will know in about six months if the FDA approves the company\u2019s application to continue producing the drug.<\/p>\n
They also want to meet with Senator Cindy Hyde-Smith to encourage the new FDA Commissioner Marty Makary to urge the agency to focus on approving medical treatments for patients with ultra-rare diseases.<\/p>\n
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