With more than 6,000 conditions claiming the title of “rare disease” affecting a combined 30 million Americans, a special day to raise awareness about this wide range of medical conditions has its work cut out for it.
But Rare Disease Day — today, Feb. 28 — is taking on this challenge with a focus this year on the daily lives of the patients living with these rare disorders, along with their families and caregivers.
While the symptoms of these conditions vary, patients face many of the same obstacles. They include devastating medical problems, difficulty getting a clear diagnosis, and limited treatment options.
And because each of these diseases affects fewer than 200,000 Americans, patients may also feel cut off from others.
“I think part of the issue with people who know that they are afflicted by a rare disease is that they feel very isolated,” said Dr. Steven D. Nathan, the medical director of the Lung Transplant Program and director of the Advanced Lung Disease Program at Inova Fairfax Hospital in Virginia. “It’s not like they have a neighbor with the same disease.”
Rare Lung Disease Challenges Active Lifestyle
Nathan points out that one well-known lung condition is characterized as a rare disease.
Called idiopathic pulmonary fibrosis (IPF), this potentially fatal condition affects about 100,000 patients in the United States. This disease is often diagnosed later in life, as was the case with Dan Castner of Napa, California.
An avid backpacker, skier, and biker, Castner developed breathing difficulty while on a hiking trip at higher elevation. At the hospital, a lung specialist attributed Castner’s breathing problems to IPF. Today he can still go on walks with his wife, but he has been forced to cut back on more strenuous outdoor activities.
“I can’t just throw on a backpack and go out camping,” said Castner. “That’s way in the past.”
Like many rare diseases, IPF is difficult to diagnose. Its symptoms resemble those of conditions like heart disease and other lung problems.
Over time, inflammation and scarring diminishes the ability of the lungs to pass oxygen to the bloodstream. Once diagnosed with IPF, patients survive on average up to 3.5 years. This condition kills around the same number of people each year as breast cancer.
“Even though it is characterized as a rare disease because of its poor prognosis,” said Nathan, “the actual mortality from IPF approaches some of the more common diseases.”
Until last year, the only treatment for IPF was a lung transplant. But a new medication approved by the Food and Drug Administration last year has helped patients see a brighter future.
“What it’s given me is a possible extension before I need to get a lung transplant,” said Castner. “It’s given me hope, more than anything else.”
Genetic Disorder Leads to Rare Disease at Birth
With limited funding available for the development of new treatments for rare conditions, hope is sometimes in short supply in the rare disease world.
But people like Kendra Gottsleben of South Dakota have shown it’s possible to turn the challenges of living with a rare disease into opportunities.
“Living with a rare condition, my life has had its obstacles, its challenges,” said Gottsleben, “but I feel like they have made me who I am today.”
Gottsleben was diagnosed at the age of four with mucopolysaccharidosis (MPS) VI, a rare disease that affects only 1,100 people in developed countries. Caused by a genetic problem that results in the body missing an enzyme, this metabolic disorder leads to cellular material collecting inside the cells.
Kendra was born with the disease, but her symptoms didn’t show up until several years later. Her condition left her with crippling back problems, difficulty breathing and walking, and poor eyesight. At the time of her diagnosis, though, there weren’t many treatment options available.
“This is a group of diseases that were sort of ignored from a therapy standpoint until the ability came together for making large amounts of these enzymes,” said Dr. Paul Harmatz, associate director of the Pediatric Clinical Research Center at Children’s Hospital in Oakland, California.
Like many people with a rare disease, Gottsleben was part of a clinical trial for a new medication. This research led to the approval in 2005 of Naglazyme (galsulfase), an enzyme-replacement therapy that requires a weekly five-hour infusion.
Finding a Glimmer of Hope in the Rare Disease World
Like many people who have experienced firsthand the challenges of living with a rare disease, Gottsleben was strongly affected by her condition. But she has managed to turn it into a positive message for other families in similar circumstances.
“Even though we have a rare condition,” she said, “we’re still able to achieve dreams and goals that others who don’t have a rare condition do.”
For her, that includes graduating from college, presenting a TEDx talk, and writing a book about how she overcame her obstacles called “Live Laugh Lemonade: A Journey of Choosing to Beat the Odds.”
This ability to find a glimmer of hope in the face of tough odds is one thing that binds together rare disease patients around the world.
“It’s a very tight community and the patients are really amazing with [clinical] trials,” said Harmatz. “Even after trials they have close networks on the Internet and support each other, and get support from NORD [National Organization for Rare Disorders] and celebrate days like the Rare Disease Day. It’s a very important day for them.”