Oliver, Rare Disease

Feb 28, 2023

“Our life with Oliver was rocky from the start. We knew some of Oliver’s possible challenges before he was born; however, it didn’t make anything any easier to experience. Oliver was born prematurely, and at two-days-old, he experienced his first medical complication that would lead to a two month stay in the NICU and his first surgery. Oliver has always been tough. He had a feeding tube placed at four-months-old, because he was considered Failure to Thrive. He didn’t let this stop him from growing and being happy. With Ehler’s Danlos Syndrome (EDS), people usually experience low muscle tone, and this affected Oliver’s ability to eat and drink. Low muscle tone has been his greatest obstacle since his weak muscles work against him most of the time.  Oliver got his diagnoses when he was two years old. Many people find out they have EDS late in life. There are different types of EDS, and Oliver was only the 30th person to be diagnosed with kEDS at his point of diagnosis. I’m happy we received his diagnoses earlier in his life. It has helped us make more sense of what has been happening to him. Prior to that, nothing made sense and it hurt us more. Now we can understand what he’s going through a little better.

Oliver has a lot of gear he wears daily because of his genetic disorders. He has AFO boots that help straighten his weak feet and ankles, KFO attachments to keep his knees from possible dislocations, and a cervical thoracic brace. The CT brace is to keep his head in a neutral position because when he looks down his spinal cord gets pinched. He will need surgery later in his childhood to correct this issue. The neck surgery will be his around his eleventh surgery to date. Oliver has had several surgeries as a result of kEDS. Ehler’s Danlos Syndrome affects connective tissue all throughout a person’s body, resulting in weaker muscles and organs. The Kyphoscolitic part of Oliver’s kEDS means he has a weaker bone structure and has kyphosis and/or scoliosis in his anatomy as well. He also gets sick often, because he is unable to cough productively and expel sicknesses the way typical people are able to. Despite all his gear and surgical past, he still does well during his therapies and remains a happy, silly kid.

At 4, Oliver is still unable to walk. We don’t know if that’s because of the low muscle tone or because of his Pelizaeus-Merzbacher Disease (PMD). PMD is a rare, progressive, and degenerative central nervous system disorder that deteriorates coordination, motor abilities, and cognitive function. With PMD many people lack coordination, especially with walking. His PMD still holds many unknowns for us, but it is likely that he will have a wobbly walk for the rest of his life. Developmental delays and genetic disorders have not stopped Oliver from growing and exceling at his own pace.

Although Oliver is nonverbal, he is really great at expressing himself. He’s a cheerful, little stinker and it’s hard to not be happy around him. He loves to do typical kid things to the best of his abilities. Oliver makes friends easily because he’s a social butterfly. He’s curious and tenacious just like any other four-year-old. He loves music and often hums, “Twinkle Twinkle Little Star.” It is enough to melt anyone’s heart. He is a ray of sunshine with an infectious laugh and smile. Oliver’s strength and pure happiness is enough inspiration to keep anyone going, especially considering all he’s been through. He doesn’t let anything hold him back whenever he wants to do something.

The Kidz Club has helped Oliver grow in the best of ways. He has great nurses, SRNAs, and therapists that genuinely believe in him. Every time he has moved into a higher room level, he has shown off even more progress. Being around peers his developmental and physical age has been great for his development. TKC has seen Oliver grow and develop since he was a one-year-old, who still looked like a baby, to the four year old boy he is now. He is a preschooler who now looks his age. TKC celebrates milestones with us. They know how big the “small” things can be. It makes me happy to know Oliver is really cared for at The Kidz Club.  He gets excited every day he goes. It’s certainly peace of mind knowing my extraordinary child is being cared for by qualified individuals!”

-Wendie, Mother

Additional Links

Ehlers Danlos Syndromes

Kyphoscoliotic Ehlers-Danlos Syndrome

Pelizaeus-Merzbacher Disease

The Kidz Club Blog

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