The baby of the family, though he is just 15 months younger than his big brother, and he’s about to catch up to him in size! Henry is such a happy kid. His sweet smile is contagious. He sometimes has a hard time in new places or with new people, but lately we have really seen him feeling more comfortable in new surroundings, and showing friendly attention to new people (He learned how to wave! He’s pretty great at it now.)
Henry is not quite like a typical three-year-old. He has a lot of different sensory needs, he is still pretty wobbly with walking (but, hey, he’s walking!), and he is nonverbal.
After our first son, Calvin, was born with an unexpected genetic disorder, we were sure that the odds were solid that our second son would be neurotypical. We were so sure.
Two months after Henry was born, we got the most shocking news of all: He was born with a totally different chromosome disorder, not related to his brother, not inherited from his dad or me, and with much more severe developmental effects. I can’t even call it a surprise. It was a shock.
And it hurt. At first. He was a beautiful, sweet baby and that diagnosis put so much fear for him into my heart.
He is a beautiful, sweet boy. And I still carry fear for him. But every day he shows me that I don’t need to. He is learning. He is growing. In his own time. In his own way. With help from great doctors and therapists and teachers, and from his dad and me fumbling along trying to figure things out.
Duplication 15q, or Dup15q, is a chromosome anomaly characterized by an extra piece of chromosome 15, a duplication of a tiny section of genes. Henry has the duplication in about 65% of his cells, which is called a mosaicism. Some of his cells don’t have the extra piece.
Dup15q is much more rare than 22q deletion. There is a spectrum of how severe the effects may be, and there are a lot of teeny tiny differences in exactly which genes are duplicated in different “Super Dupers.” In general, dup15q is associated with hypotonia, intellectual disability, autism spectrum disorder, and seizures, as well as delayed motor and speech development. Not all people with dup15q will have all of those effects.
Henry had some rough health problems during his first year of life. Severe reflux and ridiculously severe sleep apnea (the doctor at Stanford said it was the worst case of sleep apnea he had ever heard of!), which both turned out to be the result of breathing problems.
The breathing problems were being caused by his hypotonia – low muscle tone. (To my understanding, low tone doesn’t just mean weaker muscles. It’s like his muscles are a different texture and even when they get stronger they’re not going to be quite as strong as a typical person’s muscles.) Hypotonia affects all muscles, including organs, and basically his little body wasn’t strong enough to keep his airway completely open while he was relaxed during sleep. Henry had surgery when he was 15 months old to remove his adenoids and part of his tonsils in order to open up his airway. The reflux disappeared immediately as his breathing improved. It felt like a miracle after months and months of spit ups and throw up! He still has sleep apnea, though it is not as severe, and he now uses a BiPAP ventilator to help him sleep safely.
Henry’s hypotonia also means that reaching his motor milestones takes more time and more work for him. Little by little, we could see him getting stronger as over his first two years he slowly learned to sit, and crawl, pull himself up to stand, and finally – at 2 years and 4 months old – he started walking on his own! We could not be more proud of our newest little toddler!
Henry is very playful and curious. He is happiest in the comfort of familiar surroundings and faces, but I think he’s becoming more receptive to new places and new people.
He is nonverbal, and uses just a couple of signs to the best of his motor skill ability. But we are seeing his receptive language developing, and his awareness of what’s going on around him growing. He is becoming more social, more interactive with his brother, and clearer about his wants and needs.
Though his learning and growing looks different from other kids his age, it is amazing to see. Every glimpse of progress, each milestone reached feels like a huge relief and a huge blessing.
For more information on Dup15q check out the Dup15q Alliance.