rare connect
Time is of the Essence
By Patty Jackson
In January of 2018, I took an employer-based online wellness survey that included a CBC (blood draw and analysis). I received an email stating that my white blood cell count (WBC) was significantly elevated and if I had other symptoms, I should contact my primary care provider (PCP). I had night sweats and excessive daytime sweating so I made an appointment.
My past medical history consisted of breast cancer in 2002 and several years of painful joints, bones, and fatigue. In 2004, I had a PET-CT that was read as “consistent with metastatic breast cancer” with no offering of a differential diagnosis. The bone biopsy contained bone fragments and scar tissue so the PET-CT findings were written off as non-threatening.
My PCP found that both the WBC and inflammatory markers were elevated and looking retrospectively, she noticed that they had been on a slow climb for at least six years. On CT, my aorta was described as “circumferentially thickened.”
Rheumatology diagnosed me with Arteritis, an autoimmune disorder. After 8 months of high-dose steroids, nothing had changed. A vascular specialist felt the aortic thickening was not related to an autoimmune disorder as he had never seen anything like that before. Next was the National Institute of Health (NIH). The NIH Vascular specialist gave me a list of five possible conditions, however, he was reasonably certain that I had Erdheim-Chester Disease (ECD), a rare form of blood cancer.
I had ataxia (a wobbly walk); a symptom of ECD. The oncologist repeated imaging scans that demonstrated two branches off the aorta had shut off completely since the onset of my workup. Time is of the essence with this disease and it had been destroying my body unknowingly for 14 years. My blood had a marker for ECD. Treatment started and I immediately began feeling better. I will likely never discontinue therapy for this disease unless a cure is found. Over the course of 14 years, my case had been reviewed by at least 30 physicians and closely reviewed by 11 physicians before the diagnosis of ECD was made. It is a very rare disease (<1000 cases worldwide) and is not well known in the medical community as it was only described as a histiocytic neoplasm blood cancer 6 years ago. The time from onset of symptoms to diagnosis of ECD is estimated at 4.5 years. The disease is thought to be more prevalent than the numbers suggest.
The reason I wrote this is to raise awareness of this enigmatic disease is so that people can get diagnosed and treated early in the process. Please send this to your friends and others. I felt the need to put my face out there to raise awareness, to help slow or stop the progression of the disease, and to bring awareness of this disease so it is diagnosed correctly and treated early.
Follow these links for more information about signs, symptoms, organ involvement, and treatment.
This story was written for the 2021 ECD Awareness Week to bring more attention to ECD and the importance of sharing and educating. Anyone in the community can share their experience with this disease on this website. Interested in sharing your journey? Just contact us!
