My son, Haden Harper (2 years old) was diagnosed with MECP2 Duplication Disorder when he was one year old. He was born with craniosynostosis which is where the soft spots in an infant’s skull are fused. His sister, Alli (7 years), lovingly said he had a “jellybean head”. He had corrective surgery for this when he was seven months old. Haden also had a very difficult time feeding when he was born. He would choke to the point of turning blue after almost every feed. I went from breastfeeding to using any and every kind of formula that was available. Initially, his doctors believed his developmental delays were due to these issues. Eventually, because of a persistent physical therapist and a wonderful pediatrician, we found he had MECP2 Duplication Disorder.
Of course I immediately researched this disorder on the internet. The research is difficult to swallow. This syndrome is rare and research is limited. I went from site to site trying to find better statistics and only found worse. One site said 50% of affected individuals died by the age of twelve. Most of the sites said many kids won’t walk or talk. To explain the pain a mother feels for her child when he faces something like this is impossible.
Haden is making awesome progress, though. He is two now and walks with a walker, though he’s still unsteady. He can’t talk but makes noises that his family understands. Things that are normally easy for other kids are really difficult for him. Getting down from standing, for example, is one of his difficulties. His little legs shake and he gets a terrified look on his little face. He is scared to stand on his own as well and cries when pushed to do so. Physical therapy is especially tough. Haden has an awesome therapist but he screams as soon as he sees her. She works him hard and it seems to be paying off slowly but surely.
Haden has a huge support system with wonderful family, church, and community that continues to pray for him and cheer for him on a regular basis. Our little mountain town is absolutely amazing and we can’t thank them enough. Haden is blessed.
Although the statistics published on this disorder are extremely scary and upsetting, there are many encouraging things happening with the research now. Geneticists believe this disorder is reversible and studies have shown this to be true. More research is needed but all the funding for this research comes from families and friends of kids with this disorder. Please consider helping fund this research to provide HOPE for my little guy and the others affected by this awful syndrome. I have faith that Haden’s little life was meant for something amazing. We just want him to live a long, healthy life so he can work toward that.
Thanks so much for your help!