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FDA approves new drugs for rare genetic disorder
Two Austin sisters, and their parents, are hopeful after the FDA recently approved two new medications to treat their rare genetic disorder, Niemann-Pick disease, type C (NPC).
AUSTIN, Texas - Two Austin sisters are fighting a rare genetic disorder, but the recent FDA approval of two new drugs is offering the family a promising path forward.
Meet sisters Belle and Abby Andrews.
"Belle is just this incredibly empathetic, sweet girl who is just full of love. Abby is spirit. She loves dancing. She loves cheerleading. She wants your job quite frankly," said their father Chris Andrews to FOX 7 Austin's Jenna King.
The sisters - ages 14 and 10 - are full of personality. When asked what they want to be when they grow up, Abby said "a singer or a fashion designer."
"I want to be a teacher or a singer," said Belle.
But for these girls, life has been anything but normal. At a young age, their parents, Chris and Pam, had a feeling something was off with their eldest daughter, Belle.
"What it looked like for us was just a bunch of confusing symptoms of tripping and falling. Swollen spleen, low platelets, some developmental delays that were just confusing, really," said Pam.
Sisters Abby and Belle Andrews are hopeful after the FDA recently approved two new treatments for their rare genetic disorder, Niemann-Pick disease, type C (NPC). Their parents Chris and Pam co-founded the Firefly Fund to help support research and ed … (The Andrews family)
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They took her to around ten specialists from neurologists, orthopedists, endocrinologists, looking for answers.
They got those answers in March 2016 when Belle was diagnosed with Niemann-Pick disease, type C (NPC), a rare genetic disease that results in progressive neurological symptoms and organ dysfunction.
"They let us know that there were no FDA approved drugs, that it was a fatal disease and that, you know, most children make it to between 12 and 20 years old. We really started to understand that, you know, this was going to be a life-changing diagnosis," said Pam.
Nine days after Belle’s diagnosis, Abby also tested positive for NPC.
"The drive home was probably the worst, like 30 minutes of our entire lives, because we literally had no idea what we were going to do," said Chris.
While Abby remarkably doesn’t show many visible signs of NPC, Belle lost the ability to walk when she was seven and has a lot of symptoms similar to ALS or Parkinson's.
The family was starting to lose hope until this fall, when the FDA approved two new drugs to fight NPC.
"Honestly, it changes everything, not just for our girls, but for the entire community," said Chris.
One new drug called Aqneursa (levacetylleucine) comes from Austin-based company Intra Bio. When combined with two other drugs, including the recently approved Miplyffa (arimoclomol), studies showed improvements in neurological symptoms as well as speech, motor skills, and even walking.
For Belle and Abby, this symbolizes a new beginning.
"It makes me feel excited and proud of my parents for working so hard to get approved," said Abby.
For Chris and Pam, "it's just disappointment after disappointment after disappointment. And to have these approvals is a first step. And it feels like the universe has shifted. It feels like the tides have turned. It feels like we're actually going to win this," Chris said.
Chris and Pam Andrews founded the nonprofit Firefly Fund in 2017 to support research and education on rare genetic diseases like NPC. To learn more about NPC and the Andrews' journey, click here.