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The Long Road to a Diagnosis for My Son


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When I reflect on the seven-year span between the day a pediatrician noticed something was wrong with my baby and the day we finally got a diagnosis of hypermobile Ehlers-Danlos syndrome, I sometimes think of my life as a film.

If it was written as a drama, scenes would include me screaming and screaming in my car on my way to work — my voice so unfamiliar and terrifying I hardly recognize it — after I found out my son needed his third surgery.

Viewers would watch me breaking down in tears, in my own personal courtroom drama, after I was accused of believing that I knew more than doctors, eventually winning the legal battle to maintain medical decision-making power for my son.

If my story was written as a feel-good comedy, it would include all of the hilarious things my son comes up with on a daily basis. One time, when asked what kind of shark was his favorite, my then-5-year-old son, without missing a beat, yelled "carcharodon megalodon!" — a long-extinct, giant shark — so loud it echoed throughout an entire medical office. Another time, at one of his physical therapy appointments, he wore his skeleton cape and gloves, remnants from an old Halloween costume, and made up a game to play with his therapist. As they ran towards one another, each rolling a giant yoga ball on the ground, my son's cape flowed behind him. He erupted into loud giggles whenever the balls crashed into each other.

If this were a tragic tale, it would surely feature the time we rushed out of the aquarium after my then-4-year-old fell and hit his head on the floor with a crack so loud it prompted gasps from nearby parents. As we walked to our car, his little legs struggled to propel him up the small hill. "Mama, carry me," he pleaded, and I scooped him up. As his legs dangled limp, and his head rested on my shoulder, the streetlights flickered on. Light twinkled on the top layer of freshly fallen snow as if a fairy had sprinkled sparkling dust over it. As I held my boy, I wondered how the world could be so beautiful and so cruel at the same time.

Cut to our house. My son, then 6 years old, dislocated his hip while he tried to get dressed. He screamed upstairs to me to help him. His screams played in the background while the doctor, on the phone, tried to talk me through the steps to maneuver the hip back into place.

Our story would feature physician after physician who couldn't explain why my son fell so often or struggled to keep up with his peers. One doctor dismissed my son's hip dislocation, telling me it could probably only have happened with severe trauma. Another told me that he anticipated "medicine to advance in the next decade or two," as if I should wait that long for answers.

I had to take a hard look at the screenplay I was writing for myself. Did I want to be the victim or the superhero in this movie?

What did I do in response to those doctors who contradicted themselves or dismissed my concerns? I listened to my inner voice and trusted that I knew my child. I sought another specialist, and another.

Finally, I found one familiar with hypermobile Ehlers-Danlos Syndrome (hEDS), a connective tissue disorder. My son was almost 7 years old when he was diagnosed. The Mayo Clinic describes EDS as a hereditary condition that affects "primarily the skin, joints, and blood vessel walls. Symptoms include overly flexible joints that can dislocate, and skin that's translucent, elastic, and bruises easily."

As I drove home after the diagnosis, relief and validation flooded through me, and I was unable to hide the tears that I normally conceal behind sunglasses. I remembered that I had brought a special warrior bead for my son, and I handed it to him in the backseat.

"How did you know I'd get a diagnosis?" he asked. I tried my best to answer him by telling him I knew we'd eventually get there. Again, he asked, "But how did you know?"

"I had faith, my love," I answered.

My now-7-year-old son's condition is currently managed by attending regular physical therapy, wearing orthotic devices, receiving chiropractic care, taking supplements and managing fatigue. In therapy, he works to build and maintain muscle to give his body strength and structure, despite its faulty connective tissue.

I am grateful to have found several physicians familiar with EDS. I am also grateful for the community of people living with EDS in Vermont. Many faced similar struggles of being dismissed while seeking a diagnosis. In the most egregious cases, people were referred to psychiatrists because their conditions were deemed psychosomatic. Some parents have been accused of child abuse. One of the biggest challenges people with this condition face is obtaining a diagnosis. As connective tissues are present throughout multiple body systems, physicians may not connect a patient's symptoms. Symptoms also present differently in different people. Research indicates that the average time it takes to be diagnosed with EDS is 10 to 20 years.

While going through the process of finding my son's diagnosis, life didn't stop. This movie has subplots. I was still a single working mother with the extra challenge of getting medical care approved by insurance after denials, coordinating special-needs sports lessons and providing regular care, all while maintaining a career. I often had to negotiate for flex hours so I could take my son to his physical therapy and medical appointments.

At one point, I discovered a dichotomy. The better my career was going and the happier my bosses were, the worse my son did. The worse my job prospects got and the angrier my bosses were, the more my son thrived. It was like I was forced to make a choice.

Spoiler alert: Sorry, partners who told me I couldn't use my sick days for my baby's first surgeries, I didn't choose you. Sorry, CEO who fired me after I stood up to you. I didn't choose you, either.

Despite the challenge of balancing career and family, I feel called to advocate not only for my son, but also for other children and families, including people living with EDS. I write about my family's experiences to bring awareness to the condition, and I connect with others online as they navigate the same bumpy road. I am also working to create opportunities in the community where there are gaps for children who need chronic care. Further, I teach my son to speak up during doctor's visits to advocate for himself. Perhaps one day, he will be a voice for others.

If I pressed fast forward to the final scene in this journey, I imagine a blank white screen and my voice speaking directly to my son. "My love, you brought joy and purpose into my life. My wish for you is simply this — to be happy and healthy."


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