5 Things to Know About the Rare Disease Community

My daughter is one of the 470 people in the world diagnosed with the rare disease DDX3X syndrome. She received this diagnosis in 2017 after three long years of being stuck in the rare disease diagnostic odyssey. I did not know it at the time, but the day my daughter was diagnosed was also the day I became a rare disease advocate.

Looking back, my initial advocacy efforts were researching, connecting and collaborating. Fast forward to three years later and I just completed my second Rare Disease Advocacy Week in Washington, D.C. speaking to members of Congress about the important issues impacting the rare disease community! When I start to think I am sounding like a broken record in regards to DDX3X syndrome and rare disease awareness, I ask myself this question: If I am not talking about the important issues related to rare diseases, who will?

There are a lot of things you cannot control as a parent of a child living with a rare disease, but diving deep into this advocacy role is one small way I can work towards creating better tomorrows for my daughter and the entire rare disease community. Here are five things I want people to know about the rare disease community.

1.First, some statistics for you.

It is estimated that there are 25-30 million people living with a rare disease in the U.S. (For comparison, in 2015 there were right around 30 million people in the U.S. diagnosed with diabetes.) In order for a disease to be considered rare in the U.S., it has to affect fewer than 200,000 people. Researchers estimate that there are 7,000 different types of rare diseases, but only about 4% of those have an effective treatment available.

2. Many people living with a rare disease go years, if not longer, before getting a diagnosis.

The average length of time before receiving a rare disease diagnosis is 4.7 years. There are many barriers to obtaining a diagnosis. Sometimes the medical tests required are unobtainable due to financial reasons (insurance does not always cover these) or the lack of awareness regarding various rare diseases can lead to doctors not recognizing the symptoms. Also, it is possible that the rare disease may not be scientifically discovered yet!  It is not uncommon for people living with a rare disease to first receive incorrect diagnoses.

3. The umbrella term “rare disease” includes those who are undiagnosed.

This is an important one, because it can be really hard on people and their families who know something is not right, but do not have medical definitions to describe it. Unlike how we generally expect doctors’ appointments to go, these appointments commonly cause patients with rare diseases to leave with more questions than answers. This can be agonizing and some people live their entire lives dealing with this.

4. Patient advocacy plays an enormous role in the advancement of treatments for rare diseases.

Often it is the patients themselves or their caregivers who are creating foundations and collaborating with doctors and researchers to work towards finding a cure. Similarly, research on specific rare diseases depends largely on the ability of patient groups to raise awareness, provide funding, and seek out grants to support the research. Researchers have noted that research on one disease commonly leads to medical advancements for other diseases as well.

February 29 is Rare Disease Day! The main objective of this day is to raise awareness. This can be done through social media, during daily conversations, or attending a rare disease event being held that day. Over 100 countries participated in Rare Disease Day in 2019! This day is important because 95% of rare diseases do not yet have a treatment and raising awareness is essential for policymakers, researchers, and other medical professionals to become interested in making this cause a priority. Check out this page for more ideas on how you can participate in Rare Disease Day.