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.
Have any of you considered a gluten free / Casein free diet for your children with 16p11.2 deletion? It cant hurt and so many have seen positive changes with their children’s behavior. If you haven’t, please read up on this gluten intolerance and consider this change for your child. Landon, my grandson, no longer has screaming fits, and has become much more focused on communicating with family, therapists, and friend after a change to this way of eating. Consider giving it a try if possible. Sue
My son also has 16p11.2 microdeletion syndrome. He was five before we finally got approval for genetic testing. That was around the same time that he began to talk. At six he can now speak in short sentences with about 50 percent intelligibility. I know that does not sound like much, but when he began speech therapy (apraxia targeted therapy) at 2 1/2 he had only two words, mama and coa coa. The rest was grunting and shrieking until he was four. At that point he had about 4 words and 12 approximations. The progress was slow, but at this point he can communicate verbally and we are thrilled. We was nearly two when he began to walk. He self injured, had pica, and hit all milestones late, if at all. He has sensory issues and autism traits, but the jury has always been out on whether or not he has autism. PDDnos with ADHD seems to be the best diagnosis for the behavioral aspects. He is cognitively impaired but has splinter skills, particularly with computers. He is also visually impaired, but not blind. Despite everything he works very hard, and improves each and every day. We do not know how much of his challenges are related to the 16p11.2 microdeletion and how much, if any, is related to another less understood smaller area of deletion on his 14th chromosome, but regardless of the cause he continues to progress. Even his seizures are well controlled by medication.
I am writing this to tell you, that each child with this disorder is a little bit different, but each family goes through much of the same thing. We all hope for better for our child while carrying fear of the unknown. Hang in there. Even my son’s seizures have improved with medication. The future for your child is not set. She will determine that with your help as I know that my son will determine his.
She IS a very beautiful and smart little girl! I am so glad you stuck in there and got down to the bottom of her difficulties. Thank you for sharing your daughter’s story. It is so inspiring to others.