What is Evan’s Diagnosis?
I wasn't sure whether to share his exact diagnosis because it remains a significant question mark—the answer varies depending on who you ask, but I’ll do my best to explain.
Evan’s Current Diagnosis
When asked about Evan's condition, I usually say he has a chronic joint pain or musculoskeletal condition. This provides a straightforward answer to a complex question. Evan's official diagnosis from a geneticist is Hypermobile Ehlers-Danlos Syndrome (hEDS). Yet, we regard this as a "working diagnosis" due to its uncertainties, stemming both from its genetic basis and the evolving medical understanding.
Genetic Uncertainty
Although hEDS is genetic, suggesting it should trace back to one of us, neither parent meets the criteria. Evan’s dad has some hEDS traits, like stretchy skin and joint subluxations, but lacks the hypermobility and joint pain, whereas I don’t meet any criteria.
Evan’s bloodwork complicates the diagnosis further, showing positive results on the ANA and ENA screens, including Anti-Centromere Antibodies—markers often linked with scleroderma, a condition his maternal grandfather had. This presents us with a puzzle: Is it random genetic material floating around from his grandfather or indicative of something more?
Evan has also had genetic testing through Invitae - I’ll discuss this in an upcoming post about the road to diagnosis.
Exploring Autoimmunity
Some clinicians have suggested Evan’s symptoms could come from an autoimmune condition that is yet to fully present itself. While not conclusive, this possibility keeps us on alert for new symptoms or developments in his condition.
Family Patterns and hEDS
Notably, Evan’s big brother shows similar, but milder symptoms to Evan, appearing at a later age, aligning with typical HSD and hEDS patterns. Evan’s paternal grandmother shares some of the key HSD/hEDS symptoms.
The Value of a Diagnosis
Despite ongoing questions, having a working diagnosis has been crucial. It secured vital school support for Evan through an Individualized Education Program (IEP) and opened access to funding and treatment programs. Notably, we found British Columbia more diagnosis-dependent for support, whereas Ontario offered support more based on symptoms.
Going Forward
We remain committed to improving Evan’s quality of life. Whether the path to understanding Evan's condition takes us further into the hypermobility spectrum disorders or towards a different diagnosis, our goal remains the same — to develop a comprehensive support toolkit for Evan so that he can focus on being a kid.
* Note: In May 2023, a new Diagnostic Framework for Pediatric Joint Hypermobility was published, potentially altering Evan's diagnosis. However, without reassessment and widespread adoption of the new terms, we continue using familiar terminology for consistency in his care.
** Research into hEDS is advancing, with potential hEDS gene mutations being identified. We eagerly await these findings and closely follow updates, particularly from the Norris Lab at the Medical University of South Carolina.
