Friday I made the trip to UNC to see the Neurologist and for Pulmonary clearance for Sophie’s surgery in 8 days. Sophie did great on the drive there thanks to the Wiggles and Kidsongs. I had hoped she would sleep on the drive since she was up after midnight fighting us the night before and only slept about five hours but that little girl has a mind of her own.
The Neurologist was an older man, very nice and refreshing. He went through her medical records, did a physical evaluation and looked over her MRI scan. He was impressed with Sophie’s development. Up until now I had been told Sophie’s brain showed signs of atrophy which is decline in brain function with time. But this doctor gave me a different explanation, he said Sophie’s brain did not fully form. Her brain is small which I already know plus she does has microcephaly (smaller than typical head). He said because not all areas of her brain developed completely they are not active, and never were. Because of this it’s as if the wires in her brain for those areas never turned on. There for if it was never active it cannot be atrophied. Yayy!! You can tell he knew his stuff!
He was very impressed with her abilities despite what her brain looks like. Amazing what a few million pieces of genetic material can disturb in the building process of our bodies. Our genes are the blueprint for our bodies if there are pieces missing it’s just logical the we will not develop whole.
We talked about the previous doctor who told us Sophie would never learn based on the same information he had just reviewed and he stated that it’s impossible to predict what capacity a person will function because there is so much that comes to play in development. Family and medical support, education, medical complications and in most genetic disorders or syndromes there is such a wide range of severity’s that it’s impossible to make predictions. This doctor ROCKED!
Seriously it is so refreshing to meet doctors who are not negative and who see your loved one as a human being and not a syndrome. He was more concerned with her immune system and the sinus issues than the anything else.
He told me just to watch her for possible seizure development and any type of regression onset that is not associated with the after effects of surgical procedures because this type of regression is not uncommon in children especially those with special needs. We talked about her PDD (Pervasive Developmenta Disorder) including her aggressive behaviours, they have gotten so much better and she is not-self inflicting unless she is having a really hard sensory day or is extremely aggravated.
The doctor said the pace of her development delays make sense with the active and non active parts of her brain. And he was very pleased with her overall developmental progress especially considering all of the health complications she has faced.
She will always be my little girl and I’m totally ok with that but she WILL continue to learn and be the most independent Sophie she can be and I will make sure of that.