Published: 16/03/2024 Tags: Stories

My diagnosis explained a lifetime of challenges

I was 60 years old when I received my diagnosis of hypermobile Ehlers-Danlos syndrome in October 2020. My story is long and convoluted as so many are in the face of a medical system unprepared to recognize or treat this population.

I had been working as a dental hygienist for over 26 years before I was forced to leave my career due to early-onset osteoarthritis and chronic pain and headaches. The ergonomics of the profession (head forward, right arm raised) compromised posture in a stressful work environment had a devastating impact on my health. If I had any clue I had this connective tissue disorder, I would never have chosen this career.

In 2017 I began having daily pain syndrome – pain in the right side of my neck, sinuses, and forehead that radiated to my right shoulder. These symptoms continued for over a year until I saw a pathologist in New York in the Spring of 2018 who prescribed Sirolimus at a low dose as an off-label treatment for diseases of aging such as osteoarthritis. He was unsure it would help me, but within two weeks, it broke the cycle of my pain syndrome and l began having episodic pain and felt much better but still had significant symptoms and was yet to discover what was underlying this unusual condition.

My medical odyssey began when my primary care doctor sent me to several specialists for evaluation – A neurologist, a Physiatrist, an Orthopedic shoulder specialist, ENT, a physical therapist, Stanford Pain Management and Neurology, UCLA Rheumatology, multiple labs, imaging, and testing. In the face of so many unanswered questions, I began doing my own research and eventually discovered the pain syndrome was a cervicogenic headache. I shared the information with my primary care doctor, and he prescribed various pain meds that I could not tolerate.

I was also experiencing Mast Cell Activation symptoms but didn’t know what it was. We had discovered a mold presence downstairs in our home where we slept, so I moved upstairs and sought mold testing and remediation for mold illness. The doctor who evaluated my mold illness found elevated TGF beta levels in my labs and said it could indicate a mold toxicity response. I went home and researched elevated TGF beta and found it is commonly found in patients with Marfan syndrome and Ehlers-Danlos syndromes (EDS). I had never heard of EDS, but I found a wealth of information on The Ehlers-Danlos Society website. It was like a light came on that explained a lifetime of challenges I had faced for years as well as what happened to my mother, who was chronically ill for several years and died at 51. She was never diagnosed, but I am quite sure she fits the profile.

Once I learned about EDS, I asked my doctors and was told I didn’t fit the profile. One doctor said, ‘Even if you do have it a diagnosis is not necessary because there is no cure.’  I knew then that I would have to be my own advocate and learn as much as I could. Thankfully I was able to secure an appointment with Dr. Anne Maitland, and she was able to direct me to the appropriate doctors for confirmation of my diagnosis and to specialists appropriate to my needs. I was eventually diagnosed with a near full-thickness tear in my right rotator cuff and cervical osteoarthritis, as well as Mast Cell Activation and orthostatic intolerance.

My blood pressure was too low and I began taking salt tablets that are helpful. I was also diagnosed with a borderline aortic enlargement. I had hematuria and saw a urologist to evaluate it, and he said the imaging and tests could not find any pathology. Later I found a note in the radiology report that indicated a retro aortic left renal vein, also known as “Nutcracker Syndrome”.

I also have central sleep apnea and daily manage symptoms of chronic pain, headaches, fatigue, exercise intolerance, and multiple food and environmental sensitivities. I have cervical instability that results in migraine headaches and neck pain when riding or driving in a car for periods of over 1-2 hours at a time. Testing also disclosed deficiencies of many essential nutrients and immune deficiency and eventually found out I have an allergy to molds, and this was likely to be a contributing factor in my MCAS.

I have been told it is all in my head, I have been told I don’t look sick, and it took me over two years to finally get approved for disability in 2020. I am eternally grateful to The Ehlers-Danlos Society for their important and passionate work!

I currently find treatment with Cromolyn and ketotifen to be the best relief from my symptoms and was amazed at how much it helped with my pain and headaches. My ulcers have healed, and I am now able to tolerate periodic ibuprofen and Tylenol for pain management. My illness brought about some perspective, and my practice of meditation and mindfulness has been a life-changing habit that I began when I was at my most difficult time in hopes of relief from pain when I couldn’t tolerate anything else.

I am very grateful to have The Ehlers-Danlos Society and the many professionals who dedicate their knowledge and skill to help bring awareness and hope to us Zebras. I have good and bad days, but I hope to contribute to The Ehlers-Danlos Society however possible. I volunteered for the HEDGE Study, and I hope my story will help others somehow.

I enjoy arts and crafts and hope to consign my creations in a local shop and donate the proceeds to The Ehlers-Danlos Society. I have a limited financial situation and wish to do more but do my best. I also hope to help my family members who are showing signs of EDS as well to navigate the way to diagnosis and treatment.

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