Show your stripes for rare disease awareness! That’s right — this month is all about raising public, medical, and political awareness about rare diseases, the people they affect, the damage they cause on a large scale, and new treatments and research. Not only is it critical to let more people know about diagnostics and treatments that already exist, but to create momentum for the development of new discoveries. Currently, only 5% of rare diseases have an FDA-approved treatment.
Let’s talk more about the numbers: There are roughly 7,000 - 10,000 (known) rare diseases, and only a few hundred of those have any treatment whatsoever. Each rare disease impacts fewer than 200,000 people in the United States, but 30 million people nationwide, and over 300 million worldwide live with a rare disease (1 in 20 people).
5 Ways to Celebrate Rare Disease Month
Here are five ways to celebrate Rare Disease Month and Rare Disease Day on February 28th:
- Change your social media profile to show off Rare Disease Month banners, frames, and colors!
- Share your story with friends online or in-person!
- Write to local lawmakers and fight for equality in research, funding, and insurance coverage.
- Organize an event and post about it on the Rare Disease Day world map.
- Share your colors and shine a beacon from your home, office, or town! #LightUpforRare
Highlighting 5 Rare Diseases
In an effort to raise awareness, we want to highlight a few examples of rare diseases:
- Hereditary hemorrhagic telangiectasia (HHT):
- “Hereditary hemorrhagic telangiectasia (HHT or Osler-Weber-Rendu syndrome) is an inherited disorder characterized by malformations of various blood vessels (vascular dysplasia), potentially resulting in bleeding (hemorrhaging) and shunting of blood.”
- “HHT affects males and females in equal numbers. Symptoms can occur at any age.”
- “The disorder is estimated to occur in approximately 1 per 5,000 people,” but “HHT is known to be underdiagnosed. This makes it difficult to determine the true frequency of HHT in the general population.”
- Ehlers-Danlos syndrome (EDS):
- “The Ehlers-Danlos syndromes (EDS) are a group of related disorders caused by different genetic defects in collagen. Collagen is one of the major structural components of the body.”
- “Each subtype of EDS results from a distinct genetic change.”
- “The problems seen in patients with EDS can be due to either the poor strength of collagen. It may alternatively be due to the absence of sufficient amounts of structurally normal collagen. The primary complications seen in EDS involve the skin, muscles, skeleton, and blood vessels.”
- Chronic intestinal pseudo-obstruction:
- “Chronic intestinal pseudo-obstruction (CIP) is a rare, potentially disabling gastrointestinal disorder characterized by abnormalities affecting the involuntary, coordinated muscular contractions (a process called peristalsis) of the gastrointestinal (GI) tract.”
- “Common symptoms include nausea, vomiting, abdominal pain, abdominal swelling (distention) and constipation. Ultimately, normal nutritional requirements cannot be met leading to unintended weight loss and malnourishment. CIP can potentially cause severe, even life-threatening complications.”
- “It is important to note that affected individuals may not have all of the symptoms discussed below and that the severity of the disorder can vary dramatically. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.”
- Cystic fibrosis (CF):
- “Cystic fibrosis is a genetic disorder that often affects multiple organ systems of the body. Cystic fibrosis is characterized by abnormalities affecting certain glands (exocrine) of the body, especially those that produce mucus.”
- “In cystic fibrosis, these secretions become abnormally thick and can clog up vital areas of the body causing inflammation, obstruction and infection.”
- “Common symptoms include breathing (respiratory) abnormalities including a persistent cough, shortness of breath and lung infections; obstruction of the pancreas, which prevents digestive enzymes from reaching the intestines to help break down food and may result in poor growth and poor nutrition; and obstruction of the intestines.”
- “Cystic fibrosis is slowly progressive and often causes chronic lung damage, which eventually results in life-threatening complications. Because of improved treatments and new treatment options, the outlook and overall quality of life of individuals with cystic fibrosis has improved and over 50 percent of individuals with the disorder are adults.”
- Short Bowel Syndrome (SBS):
- “Short bowel syndrome is a complex disease that occurs due to the physical loss or the loss of function of a portion of the small and/or large intestine. Consequently, individuals with short bowel syndrome often have a reduced ability to absorb nutrients such as fats, carbohydrates (sugars), vitamins, minerals, trace elements and fluids (malabsorption).”
- “The specific symptoms and severity of short bowel syndrome vary from one person to another. Diarrhea is common, often severe and can cause dehydration, which can even be life threatening. Short bowel syndrome can lead to malnutrition, unintended weight loss and additional symptoms may be due to the loss of essential vitamins and minerals.”
- “Short bowel syndrome is most commonly associated with the surgical removal (resection) of half or more of the small intestine.”
NOTE: For Rare Disease Day, the gutsy perspective is amplifying the voices of patients with SBS in particular (as well as their parents and caregivers)! Check out their message and campaign.
Let’s Be Rare Together
Rare is hard, and at times, scary — but it’s also beautiful, and together, it can be powerful. Rare is isolating, but it doesn’t have to be. Let’s build awareness by sharing our stories. If you feel comfortable talking about your experience with a rare disease, consider giving Gus Gear a shoutout on Facebook, Instagram, or Linkedin. We’ll happily re-share your post!
To learn more about rare diseases, visit NORD’s rare disease database.