In the spirit of the uniqueness of this month (happy Leap Year, everyone!), we want to draw attention to a quiet yet powerful movement that sweeps across the globe on the last day of every February – National Rare Disease Day. This is a day dedicated to raising awareness about rare diseases and the challenges faced by those living with them. And while each rare disease might only affect a small percentage of the population, rare diseases collectively affect millions worldwide. The National Organization for Rare Disorders estimates that that there are currently around 7,000 rare diseases affecting 25-30 million Americans. In other words, about one in ten Americans are diagnosed with a rare disease.
Here are some statistics about rare disease that might surprise you:
- In the US, a disease is considered “rare” if it affects fewer than 200,000 people
- Most rare diseases are genetic
- Around 95% of rare diseases have no treatment
- Most people with rare diseases are diagnosed as children
- 400 million people globally suffer from a rare disease
- The causes of rare diseases, if not genetic, include nutritional deficiencies, exposure to toxins, injuries, infections, or unintended effects of treating another disease
There are inherent difficulties involved with having a rare disease. Because rare diseases are relatively unique, many times those with them experience misdiagnoses, delayed diagnoses, and a lack of treatment options. Many rare diseases are genetic, meaning they are present from birth and/or inherited. Lastly, because the population of people affected by each rare disease is so limited, research and funding resources can be limited, slowing down progress towards effective treatments and cures.
Every February, Rare Disease Day serves as a platform to amplify the voices of those affected by a rare disease. This is a day to advocate for research and bring attention and support to the rare disease cause, bringing together caregivers, healthcare professionals, researchers, policymakers, patients, and the general public.
These efforts have not been in vain; because of those speaking out about rare diseases, advances in medicine and alternative therapies have progressed, as has awareness about rare diseases.
Wondering what constitutes as a rare disease? Here are a few we’ve come across at Fountain Hills Medical Center: Ehlers Danlos Syndrome (EDS), sickle cell disease, cystic fibrosis, Duchenne Muscular Dystrophy (DMD), and hemophilia, which are only a few examples of the vast list of rare diseases.
For all health concerns, the very best practice starts with keeping regular checkups with your health care providers. With regular appointments, you’ll get your blood and/or urine checked, vitals monitored and you can talk with your medical team about any changes or concerns with your health. Your Fountain Hills medical team will be alerted to an changes or abnormalities in your readings and be able to take appropriate steps right away as needed. Especially if you have a specific concern, you should schedule a checkup with your Fountain Hills medical team. Your Fountain Hills Medical Center team is connected with a wide range of specialists and resources; if we aren’t the right team to address your condition, we’ll make sure you get connected with someone who is.
National Rare Disease Day is a reminder that while these individual diseases may be uncommon, the people affected by them are not alone. Help us spread the word about the importance of supporting those with rare diseases. Because of momentum like this, we can help progress towards improved treatments, better support, and the end of people feeling isolated and alone due to their rare disease.
