Like many people who suffer from a rare disease, Becca Boone has spent a lot of time in doctor’s offices. Becca, who is now 57, can speak in detail about a decade of tests, multiple misdiagnoses, more tests, and hours spent in waiting rooms and medical offices across the country.

It all began ten years ago when Becca found herself drinking far more water than usual and feeling pain and discomfort in her stomach. This led to her internist sending her to the hospital for a water deprivation test which resulted in him diagnosing her with Diabetes Insipidus.

As time passed, more severe symptoms crept into Becca’s daily life. She began losing her balance and yellow bumps began to form around her eyes. She was frequently feeling tired and knew something was simply not right with her health.

Her doctors worked diligently to find what was causing the symptoms, testing her for and diagnosing her with everything ranging from Multiple Sclerosis to Vertigo but there always seemed to be one piece of the puzzle that was missing.

Then, in August of 2022, while sitting with her Irish Setters on her back patio she received a call from her neurologist.

She had just been diagnosed with Erdheim-Chester Disease (ECD). “I couldn’t believe it,” said Becca. “ I was just diagnosed with this ultra-rare blood disease that I had never even heard of.” And at that point, neither had most of her doctors. But her neurologist, Dr. Jill Conway, had a suspicion that it could be ECD having had another patient diagnosed with it just two years earlier by the Mayo Clinic.

Becca didn’t know it at the time, but her story is common among ECD patients. Because the disease is so rare, it is often the last possible option doctors test for and often not diagnosed at all.

Doug Boone, Becca’s husband recalls learning of the diagnosis both with shock and an odd sense of relief. “At least now we know what we’re fighting against, and we can get to work on treatment.” Doug and their two kids quickly began researching ECD online looking for more information, which led them to the ECDGA website.

“At the beginning, it was very scary,” said Becca. “It seemed like most of the information on the internet made you feel hopeless. Once we found the ECDGA website though and the information it provided, we stopped using google and began referring to ECDGA for information.”

Dr. Conway referred Becca to a hematologist oncologist, Dr. Alan Skarbnik, for treatment. Amazingly, he too was familiar with ECD from a prior patient but admitted that his knowledge was before recent advancements in treatment developed by many of the doctors associated with the ECDGA. Through her network of physicians and the ECDGA, Becca was referred to the Memorial Sloan Kettering Cancer Center In New York City, where she is now meeting with Dr. Eli Diamond, one of the country’s lead ECD physicians, to provide consultative support to her local doctors back home.

Listening to the many videos available on the ECDGA website, participating in caregiver and peer Zoom sessions, and talking with the ECDGA Patient Navigator and other team members has provided Becca and Doug hope that while finding the right treatment may be rocky, she is on a long journey of recovery and a fulfilling life with family and friends.

She even made a point to send ECD Brochures to all her previous doctors this year during ECD awareness week.

When Becca talks about her future and wanting to get back into skiing (she still struggles with her balance) and attending the next ECDGA event, you get a sense of how optimistic and hopeful she is. And, how different this feeling must be from her state of utter disbelief that afternoon in August on the back porch with her dogs.

“ECDGA was one of the first groups that made me realize you can live with this disease. You can have a high quality of life and work through this. I didn’t really feel that way until I discovered ECDGA and it has changed my life.”

-Becca Boone