Who We Are

Who We Are

I am the mother of a little girl with special needs named Sophia. She was born in the spring of 2012 and is very delayed developmentally. We had no idea there was anything wrong until just after she was born when she developed breathing problems and they whisked her away to the neonatal ICU. It has taken a while, but her dad and I have started to find some acceptance for Sophia’s situation. It has not been an easy road and I don’t expect it will be easy in the future. The good things for us are that Sophia is a very happy girl who loves people, loves to play and laugh. She spent a lot of her first year of life in the hospital, but is now very healthy.

I quit my job to take care of Sophia full time, since after some life-threatening episodes, I couldn’t stand leaving her with anyone else. Luckily, my husband has a decent enough job that we can do this and scrape by, even with the endless medical bills. Neither of us has the condition that Sophia has, and we don’t know if we could pass it on to another child or if it was just a random problem with one of her chromosomes. My days are made up of a rotation of therapists coming to the house, going to doctors’ appointments, ordering medical supplies, strapping braces on her legs and taking care of the tube in her tummy, filling prescriptions, and trying to be a mom in between. If you’re at this site, I bet you can relate.

Sophia has an abnormality on chromosome 8P – part of it upside down (not that rare), but what is rare is that the chromosome is missing some genes and she has two copies of some genes. This is known as inversion duplication deletion on chromosome 8P. It is very rare and we don’t really know what it’s going to mean for her as she develops. There are lots of scary scenarios that we’ve heard about from geneticists. We have chosen to ignore them and wait to see what happens instead of driving ourselves crazy thinking of bad possibilities.

She also has agenesis of the corpus callosum (ACC) or (AgCC), which means she is missing the fibers in the center of the brain that connect the two hemispheres of the brain. This can mean different things to different people who have the condition, but it for her it is seeming to mean that she will have trouble problem solving, have difficult coordinating the two sides of her body, and “be a little slow”, as one doctor put it. I’m hoping that “a little slow” is the extent of it. It is possible she may have mild to severe intellectual disability, ie, mental retardation. We just don’t know. Many people with agenesis of the corpus callosum have symptoms similar to autism.

She has problems with eating and swallowing, to the point where she would choke as a young infant and stop breathing, requiring CPR three times. Her doctors were completely baffled and thought seizures were causing it. They did a million tests and could not figure it out. It turns out it was probably a combination of reflux, not being able to control her throat muscles well and an improperly formed muscles at the top of her intestines. Eventually, several surgeries fixed this problem and at about one year old, she started learning how to eat by mouth again. It has been a very slow process, but there is progress. Feeding difficulties are typical of children with abnormalities on 8P and people with ACC.

She has hypoplasia of the left cerebellum. This means she has trouble coordinating her muscles and problems with balance. She also has mild scoliosis and some deformities involving her feet, so she has braces (AFOs) to try to help this. She has a few other things going on, but these are the main things we’re dealing with.

It has resulted in her being significantly developmentally delayed. As of two years old, she can say only three words, mama, daddy and no. She can swallow purees but doesn’t chew, so she’s still eating baby foods, and any liquids she drinks must be thickened to the consistency of a milkshake or she chokes on it. It took her a long while to learn to roll over and she still tends to get stuck halfway. She can balance sitting up but can’t get herself into that position. She doesn’t walk or crawl. Her fine motor skills are delayed also, but she is showing some good signs. And we’re trying to take it day by day.

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