Many diseases are so rare that few people have heard of them. Even the government only gives a fraction of its scientific research money to fund research into these nearly unheard of disorders. Focused on making an impact for as many people as they can, government research funding is relegated to well known diseases that afflict many people.
But that doesn’t mean these lesser-known diseases are any less important, especially if you are one of the people who are suffering from a rare disease. Yet, without the financial support for research and development, there is very little that the medical world can do about difficult rare diseases.
Mom to the Rescue
Ainsley Evans was born with Angelman Syndrome, or AS as it is known, which is a rare neurological disorder. If you haven’t heard of it, it’s alright, not many people have. Because it is so rare, it has not been given the kind of attention, funding or research needed to combat its effects. Until now, that is.
Ainsley’s mother Paula refused to accept the findings of the doctor that there was no cure and Ainsley would be forced to deal with cognitive disabilities and devastating seizures her entire life. Paula decided to take the initiative herself and set up what essentially became a production line to research and develop drugs and therapy that would aid her daughter. In fact, so little research had been done in mainstream medical science on AS, that her initial foray into what was known about AS and its genetic underpinnings led her to believe that with proper genetic research and development, it might actually be curable!
Funding the Grassroots Way
Money is the key, and Paula needed to tap into crowdsource funding, charities, volunteers and even celebrity fundraisers to get the needed seed money for research. Paula created FAST, the Foundation for Angelman Syndrome Therapeutics, which is one of the most energetic fact-finding enterprises that has ever been launched into a rare disorder like AS. So far, her success in gathering some of the best and brightest minds in the search for a cure, has led to an antibiotic that has quashed the symptoms of AS in mice. Clinical trials on humans finished in 2013, and although still being studied, Paula says that brain scans show that the area of the brain which has a role in AS seizures have come back normal after treatment.
Making a Difference
Paula has stepped up on behalf of her child and filled in the blanks for the medical world where AS knowledge is concerned. She has shown that by using the tools that are available to us all, like the Internet, the telephone and being involved in charitable organizations, a person can make a difference, even if it is on the cutting edge of scientific research. Her “never give up” attitude may yet find a cure for a disorder that no one had ever heard about, and that would be the greatest gift that any mother could ever give to their daughter on any level.