When your child has an ultra-rare disease, where do you turn?

It’s lonely when your child has an ultra-rare disease. There’s not sufficient funding; there may not be a movement to rally behind, no community to share stories and struggles with.
Matthew Evangelista’ and his mother had a problem that unites many rare diseases: there is little access to drug treatment because there’s not enough people effected to make funding drug research profitable. With only 200 others with his conditions, there is nobody else out there advocating for the cause. Matthew’s mother had to do it herself.

How families approach ultra-rare diseases

Running one’s own campaign for their disease is something many families with ultra-rare diseases know. Parents approach their cause differently depending on their abilities and conditions.
Some families unite under The National Organization for Rare Disorders which is an umbrella group for almost 300 different groups, each of which is too small to carry a voice on their own. Others pool their resources together and form their own advocacy coalitions specific to their disease. While some rare diseases are looked after by drug companies, ultra-rare diseases tend to be side lined because medication that will only address hundreds of patients does not reap profits. There are so many of them that are too unique with their own tics and tendencies.
 Even families with the best resources and abilities struggle to find the cure that doctors are not working on. Parents Amber Freed and Ilan Ganot, equities analyst at Janus Henderson Group PLC and investment banker at JPMorgan Chase & Co. respectively, each took more extreme approaches with their respective children in mind. They each knew that though difficult, their wealth of resources gave them more of a chance than most. For Freed, this meant fundraising directly for her gene therapy research, rather than leaving it up to the pharmaceutical industry. She complains that its all about money in these projects, and money for such a tiny community is hard to come by.
Ilan Ganot did something incredible, risky, and very difficult for a father to take on. He set up his own biotechnology company, Solid Biosciences Inc, to do research on ultra-rare diseases. Ganot knew his privilege: his connections and support in the banking world gave him knowledge about business start ups and where to get funding. He even got personal support from his boss Jamie Dimon, the CEO of JPMorgan Chase & Co. As one of the few parents with plentiful enough resources to mobilize real research, he felt a responsibility to take on the cause and give his toddler with Duchenne muscular dystrophy the only hope he could see; and in the meantime, open up access for ultra-rare disease community world.

The story of Matthew and Helen Evangelista

Of course, most families who have a member with an ultra-rare disease do not have the ability to dedicate their lives and saving to such an enormous project. Nor do they have the money to fund research, let alone to pay for the medication if they have the luck to have any suitable treatments available.
Helen Evangelista was lucky: her child Matthew received a treatment option. However, Evangelista is a Filipino immigrant and a hospital clerk in Brooklyn, earning $20 an hour. This makes the cost of her son’s medication, Mepsevii, at $375,000, loom large over her finances. However, her son had no other hope or options, and she would do whatever she could.
Part of the story of Evangelista’s son’s drug situation is familiar in the ultra-rare disease community. Evangelista found that a drug was created decades prior, in this case by William Sly in St. Louis University, but was never matched to a specific condition. Evangelista’s role was to find the drug match that she hoped would be out there, and get access to its usage.
Evangelista reached out to Dr. Emil Kakkis who had produced a drug for a related condition, and she hoped would have insights to her then-toddlers treatment. Kakkis, who at the time worked for BioMarin Pharmaceutical Inc., relayed the classic issue: drugs must be expected to be profitable in three years, and drugs like these do not sell. However, in 2010, Evangelista’s luck changed when Kakkis left his work to found another biotech company, Ultragenyx, specifically created to support ultra-rare diseases.  Evangalista had remained adamant during the next decade, unceasingly searching for an avenue to address her son’s condition. This stuck with Kakkis, who was flooded with requests and niche problems, each needing individual solutions.
Kakkis took up Evangelista’s cause and three years later in 2013, 12 year old Matthew Evangelista got access to the first trials of the drug. He received the treatment because of the direness of his situation. It seemed he had little time left so he was approved from a law that gives early access to drugs that are not yet reviewed for those with fatal disease when there is no other option. He was the first patient to trial the drug. For Matthew, this was a miracle. Amidst more disturbing symptoms and a failing system, the drug began to help improve his symptoms within days. Today, he is 18. It was incredible at the time to imagine him still being here at this time.
The science behind the medication is not overly complicated or different from other rare diseases, rather it lacks the attention and dedication needed to make headway on the types of treatments these diseases need. Biotech firms like this give some access, one disease at a time.

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