There are more than 25 million people in the United States battling a disease classified as rare and 75 percent of them are children. In fact, 30 percent of rare disease patients die before the age of five. Many times, it’s because patients and parents can’t get the right diagnosis, quality information, and appropriate medical care. Today we introduce you to one mother who is connecting parents across the globe in order to save lives.
Madison Smith is a rare, young woman with a passion to help the very youngest patients.
“I just want kids to be informed that they’re not alone in this process,” said Madison.
She was born with a rare, inoperable tumor growing from her neck to her stomach. Madison wrote Kid to Kid to help others like little Alexis.
“I wrote a book because when I was in the hospital I didn’t like the way I was being treated,” explained Madison.
Her mother wants other parents to also find the support that was hard to find when her daughter was diagnosed.
“I realized we were by ourselves,” said Madison’s Foundation Founder Marcy Smith.
Marcy started madisonsfoundation.org. On the site parents find information on 550 rare pediatric diseases written by medical professionals and updated regularly. There is a glossary of medical terms and a way for parents to share with other parents dealing with the same rare disease.
We went on the site and asked people to share their story. A mother in South Carolina says it was nice to help another parent going through the same thing as her son. Emails of appreciation came back from San Francisco, Idaho, India, and Australia.
Marcy says parents who have a child with a rare disease should always keep searching for new information and always plan for the future.
“Treat your child like they’re living, not like they’re dying,” she said.
Madison is headed to college in the fall. This is her second book. Her first was penned when she was just ten. That one was targeted towards doctors informing them what not to do when it comes to their youngest patients.
The website madisonsfoundation.org is completely free.
In the United States a disease is considered to be rare if it affects less than 200,000 people, and a good portion of these diseases affect children. Since only around 10% of the entire population in the U.S. currently has a rare disease, finding support and treatment can be difficult. Due to small demand, many research facilities and pharmaceutical companies spend little time trying to find out more about rare diseases and possible treatments. In fact, the Kakkis EveryLife Foundation reports that 95% of rare diseases do not have even one FDA approved drug treatment. (Source: globalgenes.org/rarefacts/)
Orphan Drug Act: Prescription drug manufacturers typically cannot make much of a profit marketing treatments to individuals with rare diseases because it is such a small portion of the population. Because of this, the prescription drug industry does not put very much money into researching these diseases and possible treatments. To combat this problem, Congress passed the Orphan Drug Act in 1983. Under the Act, drug and biologics manufacturers are given financial incentives for developing and researching drugs targeted towards rare diseases. Since the Act was passed in 1983, 250 drugs treating rare diseases have been developed. The FDA and National Institutes of Health have also set up programs encouraging clinical research and product development for rare diseases. (Source: fda.gov)
Help for Rare Diseases: So you discover either you or your child have a rare disease; now what? Here are a few tips from the American Academy of Neurology on how to find help and support when dealing with a rare disease:
- Research the disease and learn about possible research studies going on. Great websites for this include clinicaltrials.gov, nih.gov, and cdc.gov.
- Contact the National Organization for Rare Disorders, or NORD, which can provide access to genetic counselors and registered nurses.
- Look into teaching hospitals associated with a university, which are more likely to have experience with rare diseases.
- Find an organization specific to your disease. These are all over the internet and can offer families and patients support as well as advice. (Source: patients.aan.com)