“We wake up every morning and choose to love.”
After 15 months of aggressive investigation, weeks before his 2nd birthday, we got my son Roger’s diagnosis: Ehlers-Danlos Syndrome.
A rare genetic disorder, EDS affects all the connective tissue in the body. It presents as hypermobile joints with frequent dislocations, gastrointestinal problems, mobility issues, and chronic pain. It’s lifelong, there’s no cure, and it’s degenerative.
When we started investigating Roger for EDS I dove headfirst into articles, medical journals, and blogs describing the many ways it presents in different people. Not only did I recognize so much of what my son’s body was going through, but I started seeing surprising trends – EDS could explain multiple “medical mysteries” I’d experienced throughout my life that I’d previously thought were unrelated. Suddenly they could all be explained by a connective tissue disorder. Our geneticist made it official. Roger was diagnosed with Hypermobile EDS – and so was I, ages 23 months and 32 years respectively.
Getting the diagnosis came as more of a relief than anything. We finally had an answer for Roger’s mounting symptoms and reasons for my own complicated medical history. But with answers come more questions. With rare disorders come a lack in research and resources.
As a family we have to surrender to the unknown and try to manage what we can control. We support our weakest joints with bracing, work to build muscle and prevent injury. I am learning how to be a relentless advocate – finding the right doctors, therapies, and support for all of us.
This is what our resilience looks like:
– Roger is learning to walk despite low muscle tone, hyper mobile ankles and balance issues. With months of physiotherapy and leg braces to stabilize his ankles and knees, not to mention so much hard work and determination on his part, Roger now runs!
– Consciously making days with specialist appointments fun. Yummy lunches in hospital cafeterias, races through the lobby, an extra ride on the elevator just for kicks!
– Starting my own business designed for working remotely with flexible hours to allow for constant appointments, injuries, and illnesses.
– Roger smacking his own thumb back into place when it dislocates, then returning to playing with his trucks.
– Ignoring advice to wait for Roger’s speech to come and learning American Sign Language so we could teach him how to communicate and ease his frustration, then Roger learning ASL so quickly he signed 3 word sentences within 2 weeks.
– Roger finding joy in everything
We wake up every morning and choose to love.
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