More than 300 million people around the world live with rare diseases, making them anything but unusual. That's not even including those living with unusual symptoms who have yet to be diagnosed — a situation that is all too common.
A rare disease as one that affects fewer than 200,000 patients, according to the United States Orphan Drug Act of 1983, which has helped facilitate and incentivizing drug discovery, and transforming the lives of patients. A recent Cure panel of individuals impacted by rare diseases in myriad ways shared their stories, their insights and how they have turned a diagnosis of a rare disease into an opportunity to advance awareness and the practice of medicine.
The Geneticist
Paul Kruszka, MD, has made it his life's mission to shorten and ultimately eliminate the "diagnostic odyssey" — the often yearslong journey made by patients and families seeking to identify what is causing their disruptive symptoms. As Chief Medical Officer of GeneDx, his works to move exome and genomic testing from specialized testing to the standard of care.
"The diagnostic odyssey is typically five to seven years. There's a lot of harm that can happen when you miss out on therapies during those years," he noted. "GeneDx's whole reason for existing professionally is to shorten the diagnostic odyssey."
Kruszka advocated for wider availability of whole genomic testing — sequencing of every gene in the body — which is becoming less expensive as technology advances. "If you go to your family physician and ask for a whole genome test, they might ask, 'What are you talking about?'" he said. "But this technology has been around for 10 years and things are changing. Payers are coming around."
As an example, he described GUARDIAN, a free study offered to parents having babies at NewYork-Presbyterian Hospital that is using whole genome sequencing to screen newborns for 450 additional genetic conditions beyond standard newborn screening.
The Brother
When Stephen Heywood received an ALS diagnosis in 1998 at age 29, his brothers Jamie and Ben became citizen scientists, gathering all the information they could find to slow the progression of his disease. With a background in engineering, Jamie and his team conducted weekly studies of potential new drugs aimed at promising ALS targets. After 250 failures, they finally identified an innovative medication that is now in clinical trials.
One thing Jamie Heywood realized is that in the real world, outside of the clinical trials infrastructure, diseases do not occur in isolation. People typically have a range of illnesses and disorders.
"The whole clinical trials process was bugging me. I was wondering, why is no one tracking everyone?" said Heywood, who is CEO of Alden Scientific. To address that question, he founded PatientsLikeMe (PLM), a community that people with all types of diseases can join to share information about themselves.
"We all have these traits and they are connected," Heywood noted. "How healthy are you? What are your diseases? There's something in the way we live, the gestalt of life, our environment, our food, our toxins and maybe our drugs. We have to measure everything."
PLM began in 2005 with people with ALS and quickly expanded. It now includes more than 850,000 people with more than 2,800 health conditions who can share information about their health, symptoms and treatments. PLM's goal is to improve the lives of all patients through knowledge gleaned from shared real-world experiences and outcomes.
The Parent
When investment banker Kammy Moalemzadeh's son was diagnosed with a very rare metabolic disorder, he and his wife quickly recognized the importance of early detection.
"It can be confusing, overwhelming and scary. There's no handbook," he explained. Genetic testing helped them find out that their son has a congenital disorder of glycosylation (CDG), which affects the addition of sugar-building glycans to proteins in cells. CDGs are also implicated in other neurological and immunological diseases, so what we learn about CDGs may help patients with other disorders.
Moalemzadeh and his wife immediately cherished the value of community. "You meet a lot of parents who've done some unbelievable things for their kids, and you draw inspiration from that," he said. "You do not just what's right for your own kid, but for other kids with the same disease and for the broader rare diseases community. Community really matters because of we can learn from other people's journeys — their successes as well as their setbacks."
They also learned to be persistent. "You've got to go down every rabbit hole," he asserted. While there is no cure for their son's disease, there is hope. "There is a confluence of sequencing, therapy and computational biology. I think over the next 10 to 15 years, there is a lot of promise ahead for this community."
The Patient
Mette Dyhrberg, Founder and CEO of Mymee, was sick for 20 years before learning she had an autoimmune disease — one of six diagnoses she received by the age of 30. On her journey, she learned that 25 percent of people with autoimmune diseases have more than one diagnosis and that 76 percent of patients experience a change in their diagnosis.
"I took matters into my own hands and I hacked my own health. It's called Mymee and it's about taking yourself back," she explained.
The goal of the Mymee app is to help people with autoimmune diseases and long COVID with rheumatic symptoms to identify their symptom triggers, learn to avoid those triggers and live a more comfortable life. Patients are matched with a health coach who transform machine learning data into a personalized care plan.
The Mymee app is especially helpful for people with autoimmune disorders who are not responding well to prescribed treatments. "We are all unique and we all need different solutions," Dyhrberg asserted. "It's not just about who you are, but how you talk about yourself. It comes down to measuring what matters and understanding what it looks like for you so you can navigate your own world."
The Advocate
Lauren Ruotolo describes herself as a "4 foot 2 inches tall independent woman living in New York City. I wear stilettos and or platforms almost every day and use sticks, otherwise known as my arm candy." But the author, content creator, keynote speaker and disability advocate doesn't want you to feel sorry for her. "I tell people first and foremost that I don't know another life," she said. "I was diagnosed at two years old."
As someone with McCune-Albright Syndrome, she menstruated at nine months old, broke her hip bones at least ten times, went through menopause at the age of eight and lives with early-onset arthritis. Now in her 40s, she participates in medical research and serves as an advocate for people with rare diseases.
Like others affected by rare diseases, Ruotolo recognizes the value of community. "I try to get patients together to talk about their daily lives. What is their pain? What other symptoms are they having?" she explained. "These are the things that doctors and researchers may not be thinking about because they're not living with it. If you have real conversations with people living with a rare disease, a lot of research can happen that is based on that."
