Following five unique stories of rare disease families on their diagnostic and cure odyssey, ‘Rare’ takes us from the intimate battles fought daily to the larger challenges facing the entire rare disease community and ultimately to the hope offered by science of cell and gene therapy.
The Rojas Family
Liliana and Paul Rojas’ two boys, Brandon and Brian, were seemingly typical kids until Brandon was diagnosed with adrenoleukodystrophy (ALD.) At the time, no treatment options were available for Brandon. A few years later however, when his younger brother Brian was also diagnosed with ALD, gene therapy for ALD had become available and saved Brian from a life of disability.
The Brannigan Family
Major Chris Brannigan left his family behind in England to walk barefoot from Maine to North Carolina in the summer of 2021 to raise awareness for his daughter Hasti’s rare disease, Cornelia de Lange Syndrome. He hasn’t raised nearly enough to get the attention of the pharmaceutical companies, but one scientist in Maine, at the Jackson Lab, is willing to help him find answers with mice.
The McPherson Family
Casey McPherson was the lead musician for a Texas band called Alpha-Rev, but he is now using his talent to raise awareness for his daughter Rose, whose rare neurological disease, HNRNPH2, if left untreated, will become increasingly debilitating. Wearing multiple hats now working in the scientific community to bring genetic treatments to children across all rare diseases, Casey is in the process of launching a biotech lab, and an N-of-1 Fund to help drive rare disease treatments forward.
The Freed Family
Amber Freed is the mom of twins Maxwell and Riley, but she is also a rare disease advocate seeking treatment for Maxwell’s genetic disease, SLCA1. When her twins were born using IVF, she thought that was the toughest battle of her life. Amber quickly learned that she needed to become a warrior in the ultra-rare disease space to save Maxwell. Now, 5 years later and having raised over 6 million dollars, she is a pioneer mom seeking a novel gene therapy treatment called ASO at the n- Lorem Foundation and an inspiration to rare disease parents around the world.
The Margolis Rich Family
Six-year-old Lily was diagnosed with a rare gene mutation before her 2nd birthday. Committed to exploring alternative paths forward, Lily's parents Darren Margolis and Carrie Rich partnered with an innovative scientific research platform called Rarebase to explore whether there could be an FDA approved repurposed drug that might target Lily’s rare gene mutation. Rarebase leverages biology and cutting-edge artificial intelligence technology to rapidly discover and develop treatments for millions of people worldwide living with a rare disease.