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Rare Disease Diagnosis: The Long and Winding Road

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Why nine years to a Gaucher diagnosis is way too long...

At the age of five, Nate was rushed to the hospital with severe, needle-like pain in his left hip. At six he received his first diagnosis. At ten he underwent a hip aspiration. Later that summer he was left bedridden for nine months due to new pain. Trial-and-error treatments continued year after year during which Nate received multiple diagnosis’, none of which were correct. He was not getting better.

In total, it took nine and half years for Nate to be diagnosed with Gaucher disease. “It was confusing for me that I was constantly going to doctors, constantly getting MRIs, x-rays, density scans,” recalled Nate. “I didn’t know what to look forward to.”

Nate’s Story

For the average person getting a proper medical diagnosis can be challenging. For a person with a rare disease the obstacles can be dramatically more difficult.

Dr. Pramod Mistry, Professor of Medicine in Pediatrics at the Yale School of Medicine and Director of the National Gaucher Disease Treatment Center at Yale explains, “A lot of patients are misdiagnosed and they go from one specialty to another, sometimes for years and even decades while they suffer from disabling complications of their disease. It causes a tremendous sense of isolation and chronic pain, disability and loss of quality of life. So there is a huge burden of suffering that the patients experience on their path to having the correct diagnosis. The worst thing is not to know. Knowing what's wrong, you've conquered more than half the battle.”

In our scientifically sophisticated world, why does getting a proper diagnosis continue to be so difficult for people living with rare diseases? One challenge, Dr. Mistry explains, is the sheer number of rare diseases. “The biggest challenge with rare diseases is that - although it affects five percent of the American population - there are 6,000 different disorders that fall under this group.

Nate understands the complications of diagnosing a rare disease all too well. The many years of not knowing what was wrong with him left an indelible mark. They were difficult years. Naturally, Nate often wonders how his life may have been different, stating, “What would have happened if I was diagnosed earlier at five or even when I was born? What track would my life have taken?”

Dr. Mistry is hopeful for the future.

We are at a critical inflection point where we can make a bold vision that every patient will be diagnosed because we understand the natural history of [Gaucher] disease. We have the technology. We understand the impact of therapies and preventing complications.
Dr. Pramod Mistry

We are committed to this vision. “We are pioneers in the field of rare diseases and we are very proud of that, but pioneers are never satisfied,” said Richard Peters, Sanofi Genzyme Rare Disease Global Franchise Head. To this point, Richard recently outlined a clear vision for the Rare Disease business: By 2025, all patients with the rare diseases that we serve will have access to an early diagnosis and appropriate treatment. “While we have accomplished a lot, there is still much work to be done to help us achieve our challenging — but achievable — vision.”

With his eyes now focused on the future, Nate hopes by telling his story he can help others. “I hope that there will be ways and procedures to diagnose children and babies affected by Gaucher…in order for them not to go through the misdiagnosis journey that I went through.”

So people like Nate can stop wondering and get back to living.

Last update: 8/2018