Celebrating All of My Child’s Milestones

Keara Engle avatar

by Keara Engle |

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All milestones that children reach are important. However, when my son, Cayden, reaches a milestone, it excites me in ways I can’t even explain.

When Cayden was diagnosed with infantile-onset Pompe disease at the age of 1 month, I had no clue what to expect. It didn’t help that his doctors weren’t too sure, either. Living with a bunch of unknowns is hard.

I never knew if I’d watch my son hit his milestones like a typical child would. He has very low muscle tone, a condition known as hypotonia, due to his Pompe. This made me wonder if he’d ever be able to do the things that we adults don’t even think about, such as sitting up, standing, and talking.

At 8 months, Cayden said his first word. Hearing him say “Mama” for the first time brought so much joy to my heart. To this day, it is the only word that he can say clearly besides “Nana” and “Hi.”

At around 10 months old, Cayden was starting to sit up with no assistance. He still needs help getting into the sitting position, but once he is sitting he does just fine. I was in awe when he reached this milestone.

childhood development milestones and infantile-onset Pompe disease | Pompe Disease News | Author's child Cayden at 10 months old sits upright on a bed while grasping a blanket

Cayden sits up at 10 months old. (Photo by Keara Engle)

Next came scooting. Although he can’t crawl, Cayden finds other ways to get around. At about 2 years old, he learned how to scoot his body around while sitting up. It can still be a bit of a challenge for him, but if he takes his time, he can get to where he wants to go.

The most recent milestone that Cayden reached was standing up. Last week during physical therapy, he impressed both his therapist and me. While wearing his knee, ankle, foot orthotics, he was able to stand up for five minutes with minimal help. This is something he’s never done before.

It was hard work, but you could tell that he was proud of himself and wanted to continue to stand. Cayden used his arms to support his upper body, while the therapist used her legs a little to help support his hips. Once he trusted himself, he slowly began to use only one hand to support his upper body, while he used the other hand to play with toys.

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childhood development milestones and infantile-onset Pompe disease | Pompe Disease News | Author's child Cayden at age 3 standing upright with assistance from a physical therapist. Cayden is looking intently at the camera with a slight smile, a bright blue shirt, and ankle, knee, foot orthotics

Cayden, 3, stands up during physical therapy. (Photo by Keara Engle)

We are adamant about getting Cayden to physical therapy once a week. This helps keep the muscles he does have strong and active. When preschool is in session, he gets another appointment with the physical therapist there, totaling two days a week. While he doesn’t always enjoy therapy, he does his best.

These milestones may have taken a while to reach, but that’s OK! The saying “better late than never” is something we live by. There’s no rush in reaching milestones, especially in a child with a rare disease. Any milestone is a big deal to us rare disease parents.

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Comments

Juan Llerena Jr avatar

Juan Llerena Jr

Keara, for us physicians is overwelming as well to see or read all neurodevelopmenatl improvements in babies with early onset Pompe on ERT, I imagine. It's a new era of knowledge regarding Pompe and new drugs/treatments are very soon in our front steps.
Keep up with the confidence,
yours sincerely,
Juan Llerena Jr - Rio de Janeiro, Brazil

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