Rare diseases affect more people than Cancer and AIDS combined.
There are over 8,000 rare diseases in the world. 1 in 10 people worldwide have a rare disease and 50% of these rare diseases affect children. But unfortunately, there are treatments for less than 5% of those diseases. As such, 30% of these children don't make it to their 5th birthday. And while no one thinks their child will be born with a rare disease, it can happen to anyone – nature does not discriminate.
Few can appreciate the battle families of kids with rare diseases fight. The mission of our film is to raise awareness about the diagnostic and cure odyssey of rare disease kids that falls primarily on the advocacy of parents. We ask the question, why isn’t more being done to save these kids? And if this was your child, what would you do?
When parents are told that their child has a rare genetic disease, they are advised that nothing can be done, that there are no treatments, and to “go home and enjoy your child.” But the science and success of gene and cell therapy is changing the landscape for rare diseases and giving families hope.
But finding a therapy and treating one child with a rare disease can cost up to 6 million dollars. And most pharmaceutical and Biotech companies are not incentivized because there is little to no profit margin developing drugs for rare diseases. So families must raise millions of dollars on their own and find scientists and Biotech companies willing to help save their child
We need to change the way we think about, talk about, research and cure rare diseases. We need to think of them in the aggregate, just like we think about over 200 diseases that we simply call “cancer.” The limits to research funding, the challenges to therapy development, the resistance to commercialization, in other words, our failure to save these children from these diseases stems from one characteristic - that they are rare.
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There are no approved treatment options for 95% of rare diseases. At present, approximately 50 new therapies are approved globally each year. At this rate, it would take more than 100 years to develop a single treatment for every rare disease estimated to exist worldwide. But the advocacy of families is pushing science to work harder, faster and smarter to scale new therapies and save more kids.
The treatment options for rare diseases kids are complicated and risky. But when a child is sick and the clock is ticking to find answers, the families we profile here are finding hope by exploring the use of FDA approved repurposed drugs, ASO (Antisense Oligonucleotide Technology) and Gene Therapy. All have proven successful in improving and saving kids’ lives. And while only 5 gene therapies have been approved to date by the FDA, many more are in clinical trials and pipelines awaiting approval.
The Science of Gene and Cell Therapy
Call to Action
“ I hope 10 years from now,
no other parent has to be told that their child has a rare disease and that nothing that can be done."
- Casey McPherson
Rare disease parent advocacy is forcing legislative, science and industry leaders to take notice. This documentary hopes to help raise awareness that rare disease in the aggregate is a health crisis that people need to care about NOW. Without changes to the cost structure, regulatory process and availability of scalable treatment options, rare disease families will have to continue to fight this battle on their own.
The families we profile in this film are the pioneers on the frontline of this battle, demanding change and action to save their child and every child born tomorrow with a rare disease.
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Lainey Moseley is an Emmy® award winning journalist who has worked for CBS and NBC News for the past 30 years. She is also the founder of CHOPS Syndrome Global; an organization raising awareness for her daughter Leta’s rare disease CHOPS Syndrome.
John Beder is an Emmy® nominated and award winning documentary director and producer. John’s latest project explored pediatric palliative care and was part of the the Oscar-winning New York Times Op-Doc series.