Sandra, a nonprofit manager from New Jersey, started to notice changes in her health in her mid-30s. It began with small things, like difficulty raising her arms while doing her hair or becoming easily fatigued when she went up the stairs. The pain and weakness then escalated resulting in limited joint mobility in her arms, hips, back and legs.
For nearly 20 years Sandra experienced increasing pain. She visited doctor after doctor and thought she might have conditions such as arthritis, MS, Myasthenia Gravis, or Lyme disease. It wasn’t until two years ago in 2015, after turning 50 and going through multiple misdiagnoses that she went to see a neuromuscular neurologist for the pain and symptoms that had become severe.
Thinking he might know what Sandra was dealing with, the neuromuscular specialist referred her for genetic testing. Using a type of testing called next generation sequencing, patients experiencing symptoms of muscular weakness in the “limb girdle” area, which includes the arms, legs and hips, and who don’t have a genetic diagnosis, like Sandra, can be screened for a number of genetic disorders simultaneously.
Through this testing, and in consultation with a geneticist, Sandra finally received an accurate diagnosis of late-onset Pompe disease, a genetic condition in which the body lacks enough of a specific enzyme (known as acid alpha-glucosidase or GAA) to break down glycogen, a form of sugar, that is stored in a specialized compartment of muscle cells throughout the body. The most common symptom in adults with the disorder? Gradually increasing muscle weakness.
Rare but not alone
Sandra’s journey from symptom onset to diagnosis is not unique for those affected by a rare disease. The journey of someone living with a rare disease is often long and strenuous, and an accurate diagnosis can take many years.
Each rare disease brings with it unique elements in its symptoms, indicators, time to onset and progression—the rarity and complexity of which can lead to feelings of isolation and confusion. Pompe disease is just one of more than 7,000 rare diseases estimated to impact over 400 million people worldwide. While less than 5,000 people around the world have been diagnosed with Pompe disease, the estimated incidence is approximately 1 in 40,000.
Like Sandra, people living with these conditions often receive multiple misdiagnoses along the way, because the signs and symptoms of a rare disease can resemble those of more common conditions and because there is less information available about rare diseases. This delay in diagnosis (or subsequent misdiagnoses) can take both a physical and emotional toll on patients and their families.
“I knew something was wrong, but I just couldn’t nail it down,” Sandra explained. “I thought maybe I was imagining how I felt and was just going crazy.”
While only a small percentage of the patients tested have been diagnosed with Pompe disease, many more have learned that they have a genetic variation that suggests another limb-girdle muscular disorder. Knowing the name of the disorder that they have is often the first step in opening up new opportunities to appropriately manage their disease.
Sandra still has Pompe disease, as no cure yet exists, but being accurately diagnosed by a genetic specialist has allowed her to pursue a path to manage her symptoms—albeit nearly 20 years after they first appeared. “I don’t want any other patients to have to go through what I’ve gone through,” Sandra said. “It was exhausting going through all the tests and going to doctor appointments, but having a diagnosis, knowing my condition is such a relief.”
The collective burden rare diseases place on patients, their caregivers, and health systems is significant. In an effort to make an impact, we have been a pioneer in the rare disease space, committed to addressing the critical unmet need that still exists in rare diseases. Our goal is to provide physician and patient access to tools, knowledge and resources that will lead to timely and appropriate diagnosis.
Across the globe, we support programs that help people with limb-girdle muscle weakness, like Sandra experienced, gain access to next-generation sequencing genetic testing.