At just four months old, my son Max was diagnosed with a rare metabolic disorder and a severe, also rare, form of epilepsy. Those first four months of his life were some of the most tiring of my life. Max wouldn’t eat regularly, and when he did, he would throw it all right back up. He also slept all the time! We maybe saw his beautiful blue eyes for an hour total each day. We were up feeding him throughout the night trying to get him to gain the weight back that he was consistently losing. When his whole little body started shaking, we knew something had to be wrong. We were sent to our local Children’s Hospital and put in contact with a neurologist and a metabolic doctor. After running a full metabolic panel of tests, his pediatrician called with
a result.
She told me, “It’s a rare metabolic disease where a body can not metabolize protein, specifically vitamin b12. There are maybe 250 known cases in the world but we don’t know if this is it for certain, so don’t go Googling it. That will just scare you.” They were running more tests, and would get back to us with the results in a few days.
I hung up the phone, opened my laptop, and went straight to Google. I typed in the name of this rare disorder, that only around 250 children in the world had. And finally, after four months of worry, found the description of my son.
I truly can not imagine what our lives would be like without the technology we have in this day and age. We have been able to learn more about our child and his very rare conditions. We have been introduced to the groups of parents around the globe that have children with the same metabolic disorder as Max. We have found and entered the study at the National Institutes of Health that is working looking for a cure. We have found equipment that gives him mobility, confidence, and a way to communicate. We have had a way to stay in touch with family, when it has become increasingly difficult to travel with a medically fragile child. All from a tool that was really not that much of a reality just 10 years ago.
Technology plays an incredible role in all of our lives these days. We are learning new things about Max’s disorder every single day. We’re being connected with new families around the globe through Twitter, and Facebook, and blogs, and Google Groups. It can be such an integral part of a family’s life with a special needs child, but often families just don’t know how many doors that technology could open. It is my hope to share with others how it enhances our lives, and makes this journey just a little bit easier.
Excellent!