With 16p11.2 Microdeletion Syndrome, Hadley Hopes for a Bright Future

Hadley was born January 19, 2010. She was the most beautiful baby I had ever seen. Even the pediatrician who checked her at the hospital deemed her as “perfect.”

However, at about three weeks old, Hadley started screaming. She also started refusing to eat, and as a result, she had great difficulty gaining weight. Her first year was filled with doctor appointments and invasive tests.

But mostly it was filled with screaming. Everyone kept telling me that I needed a break. That I needed to get away. But Hadley screamed the most horrific, pain-filled screams you could ever imagine. I didn’t need a break, my daughter needed relief. And no one would listen to us.

By the age of one, Hadley had been diagnosed with Gastroesophageal reflux disease (GERD), failure to thrive, constipation and food intolerances. It was stressed upon me that she would grow out of everything. At each appointment, we were told another age when Hadley would miraculously “grow out of” her symptoms. All of my concerns fell upon deaf ears and the only thing that mattered was the scale. When her weight was good, I was told I was overreacting. When her weight was poor, I was told to prepare myself for Hadley to have a feeding tube. We rode the weight roller coaster for three agonizing years.

There was a time that she was taking six prescription medications a day, but we were continuously told there was nothing wrong.

At 17 months, Hadley had a grand mal seizure. After three days in the hospital, no one could tell us why. Hadley also became more and more delayed in her development as well as started showing new symptoms like behavioral issues, and at times, she would begin self-harming.

I began taking Hadley to any specialist I could think of: endocrinology, allergy, genetics. I had to insist on these visits and was even told I would be wasting my time. However, when going to these different doctors, they expressed significant concern and validated my fears.

Our answer finally came with genetics. Hadley has 16p11.2 microdeletion syndrome.

Hadley will always have a tougher road than most. Unfortunately, since there is such little research with rare and genetic diseases, we have very little knowledge about what Hadley’s future will hold. But in spite of all of her struggles, Hadley is the brightest, most strong willed and loving child I know. She brightens the lives of every person she meets, and I know she has a strong purpose in this world.

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Global Genes Comments

  1. My son was diagnosed at 8 months of age with 16p11.2 micro and now he is 8 yrs old and he still cannot walk yet or chew or us the toliet he is in all the necessary therapies and working hard to achieving this one day. He is intelligence lvl is still kindergarten. Its very hard and i jist try to stay positive for him. He is homeschooling as well now as he was bullied. Anyhow would love to connect.

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