Meet Henry!

The baby of the family at age 4, 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. Henry is very energetic and playful and he is happiest in familiar places. He loves music, the beach, he’s a great eater, and he loves his big brother Calvin.

Henry is not quite like a typical four-year-old. He has a lot of sensory needs, he is still a bit wobbly with walking, and he is pre-verbal.

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! Now, at age 4, he is still a bit wobbly, though he has been walking for almost 2 years. Over the past year we’ve seen his stamina for walking increase, and he is working on walking up stairs, though it’s still a pretty big challenge!

Henry is very “sensory seeking.” This means he is almost always seeking out sensory experiences, specifically things that are very stimulating. He loves the washer and dryer for the sound and the vibration. Same with the dishwasher. He likes to sit over the air conditioning vent and feel the cold air blow on him. He loves playing in water, especially running water. He puts everything in his mouth the way a much younger baby would, because mouthing is an important sensory experience to him. He loves toys that play music and he puts his ear directly to them to hear it louder and feel the vibration.

Lately Henry is also into cause-and-effect play. As in, if I flip this rain stick over, it will make noise! Or, if I push this button, my toy will play a song! Or his current favorite, if I throw this thing from the top step, it will bounce all the way down!!

He is pre-verbal, which means he doesn’t talk yet, but he has receptive language so he is able to understand some of what we say to him. He babbles lots of sounds and lately we are noticing him babbling more intentonally. For example, when we sing the ABC song, he says “Ba, ba, ba,ba” as if he is trying to sing along. Sometimes he will cover his face, uncover it and say “Da! Da! Da!” with the intonation we would use to say “Peek-a-boo!” He vocalizes to show his feelings and opinions – not words or syllables yet, just sounds. And my personal favorite, now he will say “Mamamamama” if I ask him to say “Mama” so I feel like we are one step closer to him actually calling me Mama.

Henry waves hello and goodbye. He blows kisses. He also communicates by bringing us things he wants help with, like a cup to be refilled or a toy to be turned on. He will move my hands to do the motions of his favorite songs Wheels on the Bus and Row Your Boat when he wants to sing. He will put his hand to his mouth to ask for food. And now he will use the ASL sign for more during a meal to ask for his next bite.

My favorite thing about Henry is that he is such an affectionate child. He is eager with a hug and a kiss and a big smile to show how joyful he is most of the time.

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.

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