Evan first saw his Neurologist in the beginning of 2012 because we were concerned with his delays. At that time Evan was the youngest child with Harlequin we knew of. So a lot of our assumptions were that his diagnosis and preterm birth were the result of these delays. He had an MRI done which showed under developed spaces of Myelin. And the plan made at that time was to increase all his services in hopes that it would help him reach the milestones which come so easy to many "normal" developing children. Though his therapies have immensely helped him improve across the board, he still struggles to reach milestones and the ones he has achieved, took years.
Over the past few years we have connected with families who have children with Harlequin, many who were born after Evan. It was interesting for me to see these children grow up and surpass Evan in the motor world. It confused me as we seemed to "blame" HI for his delays yet these other HI kids were doing so well developmentally. Granted he is the most preemie out of all the HI kids I know of, I have started to think that there is something else going on which is causing him to take so long to develop gross motor abilities. I have been asked if his lack of diet was thought to be causing his delays. I find it hard to believe since he has always gained weight and actually ate pretty well his first year of life. Yet he met very few milestones in the first 18 months of life. And after seeing multiple dietians, a naturopath and Yale's GI doctors, his weight gain is not average but its consistent. I mentioned this to the Neurologist when we met with her but she seems to think it's something else.
After evaluating Evan and being very pleased with how much he has improved since the last time she saw him, she still had some concerns. She wants him to see an orthopedist before we continue with a 2nd MRI. He has seen one before but at that time he wasn't nearly as "motor" as he is now. She also noticed how hyper-reflexive he was which is a sign of a nervous system "issue". She made a comment that even though he has been diagnosed, there could be underlying issues with the mutations he has in his genes. Evan has mutations in his ABCA12 gene which causes HI. When he was born his dermatologists mentioned that one of the mutations has never been reported. So this leaves lots of room for the unknown. I was confused as I thought these mutations just affect his skin. But there is so much they are still learning about the condition, with the Neurologist mentioning how a missing protein may be affecting more than just his skin.
I'm not sure if we will ever know if it was the premature situation, intense NICU stay, the unknown of what his mutations completely affect or all of them combined, that have ultimately caused these challenges for Evan. Nevertheless I am certain that we will triumph and get him to where he needs to be with time and a little (well a lot of) work. It has been evident that it takes him a long time to achieve developmental milestones, remembering at his 1st birthday he was like a newborn in many ways, but we will get there. Knowing that he has made more improvements in the past year than he has in his whole life reassures me for the future. He is our 'young warrior' and has been impressing me everyday for the past 4 and a half years and I'm sure will continue to do so for the next 50+.
Now please enjoy the cutest video ever!