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Henry and 15q

Meet Henry.

A happy and playful little guy!

A few months after his birth, we learned that Henry has a tiny extra piece of his 15th chromosome floating around in about 67% of his cells. This condition is called 15q Duplication Syndrome, or Dup15q. The fact that it is not in all of his cells makes it a type of mosaicism.

For babies, Dup15q causes slow weight gain and feeding problems, as well as hypotonia (low muscle tone). Because of the hypotonia, they may also have digestive troubles like reflux or trouble swallowing. The hypotonia also causes motor delays.

Though he started rolling from front to back at three months, it took him until he was 10 months old to be able to roll the other way. At 12 months he could move around the floor by rolling and pivoting. At 13 months he could sit unassisted for a few minutes. At 16 months he started "tummy crawling," and now at 23 months he is cruising and crawling like a pro! He is an eager little explorer. He has ankle orthotics which he wears for a few hours each day to give him some help with standing while he strengthens his other joints and muscles. He has gotten so much stronger in the past few months! He is making really great progress.

Henry works with a physical therapist on his gross motor development, an occupational therapist for fine motor development and feeding, an early intervention therapist who looks at his overall development, and speech therapists to help him develop his communication skills.

He has also had some medical problems caused by his syndrome. Last year he suffered from severe sleep apnea, acid reflux and vomiting - all of which turned out to be related to respiratory difficulties. He had surgery in October to remove part of his tonsils as well as his adenoids to clear his airway and allow him to breathe more easily, especially during sleep. He still uses a BiPAP ventilator at night but his breathing is much improved. And once his breathing improved, his other medical problems - the reflux and vomiting - completely disappeared! No more reflux medications needed and he has made leaps and bounds with feeding development. After his surgery he also made impressive progress in all other areas of development. It has been a huge relief to see him doing so much better.

Henry is growing into a playful and curious two-year-old. He is happiest when he's around the people he loves. Now that he is more mobile, he is usually on the go: cruising and crawling around to see what's there to be seen (and taste what's there to put in his mouth!). He also loves movement and music. Swinging, spinning and bouncing, and listening to songs and rhymes make Henry very happy. His communication skills are beginning to emerge and we are starting to see glimpses of what Henry understands and what he is trying to tell us. He's on his own timeline for growth and development, and though it's hard work for him, it is also amazing and beautiful to watch.

Kids with Dup15q are at risk for autism, ADHD, sleep apnea, intellectual disability and seizures as well as delayed motor skills and delayed speech. The list of risks associated with this diagnosis is worrisome, but we try very hard to stay in the present - take things one day at a time, one milestone at a time, one smile at a time, and celebrate every blessing. Henry shows us every day how much he is learning, how much he is growing, and how much stronger he is getting. We love him just as he is and we will continue to do everything we can to help him be as healthy and happy as possible.

For more information about Henry's birth, diagnosis, and development, check out these posts:
Henry's Birth Story
Wait, He Can Do That?
Two Little Too Little Boys
Tummy Time and Tummy Aches
Meds, Munchies, and Moves
Little Things
Baby Sitting!
Sleep Apnea Worries and Woes
Henry's Home from the Hospital
New Year, New Skills
Looking, Listening, and Pre-Language Skills

For more information on Dup15q Syndrome, check out

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