On March 26, 2021 our 6 year old son became a Zebra. Besides a desert grazing black and white striped animal, you probably don’t know what that means. 8 months ago, I didn’t either, but we’ll get to that.
A volcano bubbling with ferocity while the walls threaten to crumble at the precipice of implosion. That begins to describe my essence over the last 8 months. It’s taken me that long to write these thoughts. For 8 months, we have sat in research, observation and confusion wondering if our fears would manifest to reality. See, about the time the pandemic hit, our family was coming off 2 years of heavy loss and trauma.
In 2018, our son, Zander, was diagnosed with Type 1 diabetes at the age of 3, 3 months later my Dad passed away after a 2 year battle with cancer, two weeks after that I lost my job. This was followed by 2 of our dogs passing away, my mom moving in and starting treatment for cancer, and caretaking for my grandparents over their final months with us in 2019. These transitions were a lot to go through in 18 months. Then 3 months later, COVID hit taking more family with it.
It’s been a whirlwind for all of us. When we started online schooling, some of Zander’s behaviors we’d been monitoring became more intense and as such, seemingly more significant as the months passed. As a parent, we want to tell ourselves that our kids are healthy. Have them ‘rub a little dirt on it” as my Dad used to say, as a way to toughen them up or push them into a vision of success. We look for signs of normalcy and try to teach them to be better humans in the ways we know and understand. Sometimes, that doesn’t work.
Kids grow up fast, but diabetes makes it faster. Our goal has continued to be to give our son as normal of a childhood as possible. Diabetes challenged that. Life keeps challenging that.
Yet, day by day his struggles grew and I couldn’t help but think I was doing things wrong. School got harder and longer to get through. Incentives weren’t working anymore. There were yelling, tears and tantrums daily. His interest in everything dropped to almost nothing, with the exception of his newfound obsession - Minecraft. I was desperate for answers. I researched with caution. I observed with intensity. I tried to remove biases and projections, to only look at the objective facts. Everything pointed to something. A few things.
While we worked to understand what these behavior and symptom changes were linked to, we saw an increase in frequency of tantrums, mood swings, irregular eating and sleeping habits, insomnia, excessive fatigue, and sadly, frequent and prolonged pain.
The more we learned, the more our natural concern as parents grew. Could all these fast changes really be linked to Diabetes? Did the pandemic trigger something after the prolonged stress?
We welcomed the upcoming well-child appointment and we couldn’t have prepared for the events that unfolded with lightspeed succession. To put it simply, we were knocked off our feet and once again our lives got shoved into a vortex of change in the unknown.
It’s hard to put into words the emotions, worries and sadness that the last 8 months has held. We’ve been like the impala collapsing to the lioness. Frozen and paralyzed as the world once again spins out of control. That starts to describe it. The immobility, frustratingly visible; yet, utterly uncontrollable. Helplessness.
So what’s a Zebra? The medical community commonly expresses the phrase, “When you hear hoofbeats behind you, don’t expect to see a zebra.” As many of us with invisible illness have experienced, medical professionals look for the more-common ailments rather than looking for rare, underlying causations. Many people who have similar journeys as our little guy, will not know until later in their 20s, 30s, sometimes 50s or later because of this. Leaving them searching for anyone who can provide explanations for their health. It’s sad.
This was; fortunately, not our experience. We happened to have a pediatrician that knows the symptoms of rare disorders and has a preference for action in following our concerns.
After experiencing and monitoring Zander’s back pain for a year, his wrist and ankle pain, abnormal “growing pains”, insulin resistance, sensory struggles, headaches, stomach aches, rashes, fatigue and more had increased. As quickly as these things seemed to manifest, we began getting our answers.
First, an xray that confirmed a minor case of scoliosis, for which we began PT right away. This led to an examination of skin and joint flexibility that confirmed a degree of “looseness” that our pediatrician wanted to check into so he referred us to the sole geneticist in the state to check for “hyper-mobility”.
To grossly simplify the process, I spent 3 months lining up referrals so Zander could get tests that included xrays, CT, brain MRI, psych eval, EKG, EDG, and EEG. We can’t forget the required COVID test for each exam, online school and therapies happening also. Poor kid.
All that to wait 4 more months (a total of 7) for a spot to open so we could see a geneticist. There’s only one pediatric geneticist in the state of Arizona. Only 2 hyper-mobility clinics are held each month and only 3 kids are seen per clinic. Space is precious and rare, so they put us 1st on the waitlist due to his Type 1 Diabetes and we did just that - waited.
With luck, a spot opened two weeks before our scheduled appointment. I rushed to get the final lingering medical records, family pictures and last details situated for this unexpected; yet, welcomed shift. The next day, what we and several specialists suspected was confirmed as a separate, non-autoimmune related, serious and rare disorder where those who have it are called the zebras. Complex and complicated medically, the result is a diagnosis called Ehlers-Danlos Syndromes (EDS)/Hyper-mobility Spectrum Disorder (HSD).
EDS is an inherited group of connective tissue disorders characterized by joint hyper-mobility, skin hyper-extensibility, and tissue fragility. Frequent muscle, joint, skin and organ issues can be caused by the structural component of our body, collagen, not being produced properly in our cells. Since every cell in our bodies use collagen, these disorders lead to loose skin and joints, dislocations and subluxations, velvety/translucent skin, organ and tissue weakness, organ failure and much more. In other words, really f-in serious.
To test for EDS, the geneticist uses what’s called a Beighton Score, a test that measures symptoms of hyper-mobility like joint and skin elasticity, and subluxation or dislocations.
Zander’s scored was a 7 of 9, garnering the confirmed Hypermobility Spectrum Disorder diagnosis and official christening as a medical Zebra.
We are waiting to get results on his genetics test. The ‘good news’ is that the doctor assured us that one of our biggest fears, Vascular EDS (vEDS), was ruled out with high certainty. However, they did the genetic EDS panel to confirm or disconfirm a diagnosis of Classic or Classic-Like EDS and we should get the results within the month.
A moment to pause and the tears slide softly with gratitude and sorrow with this news. It’s not Vascular. Phew. But it is hyper-mobility, and likely a more serious form of EDS.
So, this is when bad news - hypermobility, becomes good news - not vEDS. What does it really change?
Everything.
Nothing.
At the end of the day, he’s the same kid with the same challenges as he had yesterday. He’s no stranger to the pain, or subluxations. Not to tantrums, belly aches or nights with little sleep. In his own words, “It’s ok, Mama. I’m used to it.”
Through constant communication, we are more aware of his body and his needs so we can better help him learn to keep his body strong and healthy. We’ll keep loving him and doing our best to help him grow in comfort, character, compassion and all the important things in life.
He’s right. He is ok. He doesn’t know any differently, so his basis for comparison is non-existent. Is that a blessing or curse? Maybe a bit of both. Or maybe it will become his gift? Anything is possible.
We will continue to encourage his bravery and ask the powers that be that his will continue to strengthen while his heart remains soft; so that he may carry this load with grace, always being aware of his limits and exceeding his own expectations.
On this journey, that, I pray.
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