Rare Diseases are not Rare
Across the world, an estimated 300 million people live with one or more of over 7,000 identified rare diseases. For them, their family, friends and team of caregivers, Rare Disease Day, on this rarest day of the year, is a time to bring awareness to this community. Due to the broad diversity of disorders and relatively common symptoms, which can hide underlying rare diseases, many patients with rare disorders are initially misdiagnosed. In addition, symptoms differ not only from disease to disease, but also from patient to patient suffering from the same rare disorder.
Mayo Clinic was the first in the U.S. to establish a multidisciplinary, individualized medicine clinic to treat patients with rare and undiagnosed diseases and advanced cancers. Many patients who have a genetic based disorder and unexplained conditions search an average of 8-10 years for answers. At Mayo Clinic, specialists in individualized medicine have been able to make a diagnosis in 30% of the cases. The rest are reviewed through DNA test results and compared with similar cases worldwide.
“Rare is not rare to us. Mayo Clinic has over 3,800 researchers who relentlessly pursue discoveries that will deliver hope and better health to people today and for generations to come,” says Konstantinos Lazaridis, M.D., who researches and treats patients with rare diseases.
The following stories cover the broad diversity of disorders and symptoms that vary from patient to patient, and the common challenges faced by people managing a disease few others have experienced.
Diagnosed with multiple sclerosis (MS), Maureen Jessen always wondered why the disease affected her so differently than it did others. Doctor after doctor told her that MS was likely causing her symptoms, so she believed them. Mayo Clinic specialists, however, gave Maureen new insight into her illness — one that had nothing to do with MS. Maureen actually has a rare, genetic metabolic disorder. Read her story at Sharing Mayo Clinic.
After three generations in one family suffered from a rare bleeding disorder, a genetic test solved the mystery leading to a correct diagnosis and a treatment plan. This case spurred the launch of the first of its kind Mayo Clinic Premyeloid and Bone Marrow Failure Disorder Clinic, meeting the needs of patients with blood disorders. Read the rest of the story on the Center for Individualized Medicine blog.
One of the basic building blocks of understanding disease is epidemiologic research. In this science, researchers seek to understand how often a condition occurs in a particular population, and to identify successful ways to treat or prevent disease. In a study published in 2019, a team of Mayo Clinic researchers led by rheumatologist Ali Duarte-Garcia, M.D., described the epidemiology of antiphospholipid syndrome. This is the first ever publication characterizing this disease – the newest building block in understanding this rare disease. Read the full story on Advancing the Science.
Nick Saleum felt a painless lump in his left forearm. One doctor misdiagnosed the lump as a ganglion cyst or lipoma, but Nick noticed the lump growing and went to see another doctor. A biopsy revealed a rare, cancerous tumor: epithelioid sarcoma. Read Nick’s story at Sharing Mayo Clinic blog.
A Mayo researcher used her detective skills to collaborate with other researchers worldwide to find answers for a young boy suffering from an extremely rare disorder that was causing rapid loss of liver function. Read about the mystery on the Individualizing Medicine blog.
Discovery researchers at Mayo are investigating how a cellular “antenna,” or cilium, determines what stem cells differentiate into: muscle, connective tissue, or bones. The knowledge will help researchers understand many degeneration diseases that currently have no treatment or cure. Read more about recently funded discovery science efforts on the Advancing the Science blog.
Morgan Cook was an active and healthy 27-year-old until she started experiencing symptoms of decreased energy levels, low blood counts, and hyperextensible joints (capacity to be stretched to a greater than normal degree). She thought it was all in her head until a Mayo physician dug deeper to uncover the cause of her premature aging syndrome. With a correct diagnosis of short telomeres syndrome, Cook is relieved to have a diagnosis. With patience, monitoring, and hope, she’s on the right path to manage her condition. Read the full story on the Individualizing Medicine blog.
February 29th is Rare Diseases Day across the world. If you or someone you know is affected by a rare disease, consider:
- Sharing this story with friends - social media links are at the top of this page
- Checking out Rare Diseases Day events in your area: https://rarediseases.org/rare-disease-day/events/
- Supporting Mayo Clinic or another organization that researches rare diseases
For those with a rare disease, Mayo Clinic has experts and clinical trials for a wide range of conditions. Consider checking to see if your disease is among them.
The SPARK Research Mentorship program introduces high school students to the rigors of scientific discovery in Mayo's world-class laboratories.
Just months after young Maggie Carmichael started taking an experimental drug for her ultra-rare genetic disease, she was able to trade in her wheelchair for a walker.
Learn about clinical trials and what a nurse says when people in her community ask her why they should consider participating.