by Katherine Busby
Today is Rare Disease Day. It’s the day to recognize all those thousands of diseases that largely go unnoticed, diseases that receive little funding to researchers from drug companies and from the government because the patient population isn’t big enough to make it cost-effective. Collectively though, thousands suffer from these diseases and with the help of determined patients and parents, the internet, social networking, and some of the bigger support/advocacy groups that encompass many different rare diseases, changes are increasingly being made. Hypothalamic hamartoma is what Ezri has and is one of these (ultra) rare, and many times catastrophic, disorders. It is amazing to see the increase in treatment options and improvement in prognosis that have occurred over the last 15 years due to the acceleration of information exchange. Hopefully the research in my future will help contribute to many more great changes for patients of rare disorders!
