Ehlers Danlos Syndrome: It took me 47 years to get the right diagnosis

Brie Donahue has struggled to overcome severe health problems since the day she was born.

“I was so small at birth – just 4 pounds and 6 ounces – they gave me the last rites,” she shares.

Growing up, she faced physical development problems, which doctors chalked up to being born among the lowest 1.5% of birthweights.

“It says in my baby book I had a hard time learning to stand,” Brie explains. “My mom wrote that my legs ‘wouldn’t obey me.’  Once I finally did stand and walk, I was severely pigeon-toed.”

Ehlers-Danlos syndrome: Chronic Pain, Headaches, Fatigue

She experienced chronic migraines, severe menstrual pain, limb weakness, clumsiness, and chronic fatigue. Despite the challenges, the Michigan native pressed on – unaware that her health trouble was the result of a rare disease.

Eventually, Brie was diagnosed with postural orthostatic tachycardia syndrome (POTS), a type of malfunction of the involuntary nervous system. The POTS diagnosis was possible because it has an objective sign: blood pressure. POTS causes heart palpitations, shortness of breath, brain fog, and weakness-when-standing. Daily tasks became risky enterprises due to the risk of unexpected fainting.

Although she was properly diagnosed with POTS, something was still not right. Brie still suffered symptoms that couldn’t be explained solely from the POTS diagnosis.

“I had had a bright future in broadcasting, with interest from major market program directors, but I was simply too weak and sickly to pursue it seriously,” she says. “I didn’t understand why getting up in the morning and being able to make it through a workday was so hard on me when others could do it without experiencing the problems I faced, but now, post diagnosis, it all makes sense.”

The entire ordeal increased her stress and contributed to anxiety and depression, which are common with many chronic illnesses.

Ehlers-Danlos syndrome: Battling a Disease with Invisible Symptoms

Brie struggled to get the right diagnosis because she suffered invisible symptoms. Fatigue, pain, cognitive problems, and memory loss are problems that are difficult to objectively measure. Doctors must accept the patient’s account and try to piece together the underlying cause. When a patient reports several symptoms, such as in Brie’s case, a doctor naturally tries to connect the dots. But, that kind of detective work isn’t easy.

Which symptom is a cause and which is an effect? Are the symptoms related or unrelated to one another?

A physician may try to score the complaint on a questionnaire or scale – something they can measure. That’s the purpose of the “1-10 pain scale” and emotional health questionnaires. Yet, even when used properly, these scales provide doctors with a subjective report that requires their professional judgement.

Doctors often fall back on the adage of Dr. Theodore Woodward’s, “When you hear hoof beats, think of horses, not zebras.” In other words, the conclusion that is most common is probably correct. This works well most of the time, but it can be devastating for patients like Brie living with rare diseases.

Rather than passively wait for her doctors to figure it out, Brie insisted on seeing a connective tissue expert. Doctors at the Connective Tissue Clinic at Cincinnati Children’s Hospital Medical Center diagnosed Brie with Hypermobility type of Ehlers-Danlos syndrome. After that diagnosis, she got confirmation from a geneticist.

For the first time – at age 47 – she had the right diagnosis.

For the first time – at age 47 – she had the right diagnosis of Ehlers-Danlos syndrome. Finally, things made sense.  Struggling to walk, that was an EDS symptom. “In kids with EDS, their legs aren’t strong enough to help them balance correctly,” she points out. Her POTS diagnosis, too, was another sign.

Just 1 in 5000 patients experience Brie’s unique type of Ehlers-Danlos syndrome. Having lived so long without a proper diagnosis meant Brie and her doctors could never properly treat her many problems.

“I’ve not fully understood why I was so defective. ‘Defective’ sounds like a harsh word, but it’s the truth,” she shares. “This has always been my physical reality as long as I can remember.”

Her medical mystery and the inability to find the right treatment severely impacted the rest of Brie’s life as well. Being understood by loved ones, taken seriously by the medical profession, being covered for the right treatments by insurers, or qualifying for certain benefits — it all starts with the right diagnosis.

“There is also the financial devastation of fighting for years for Social Security Disability, there’s often little understanding from family, friends and the world at large,” she says. “Since our disease is invisible – we look like they do.”

Brie’s religious faith has kept her strong during her lifelong struggle, and so has her Ehlers-Danlos syndrome community. Brie is very active on the Ehlers-Danlos syndrome boards of Inspire.com, a forum for patients to focus on discussions of their disease and a helpful tool to patient support associations like the Ehlers Danlos Society.

Jim Sliney, Jr., a Registered Medical Assistant, writes educational and advocacy articles for patients with rare and under-served diseases. Jim volunteers for G-PACT.org, where he serves on the board of directors as Newsletter Editor. Connect with the Bronx native on Twitter.