Charles Mattis was born on May the Fourth (be with you), 2014. The youngest of five, Charlie joined a family full of happy noise, friendly chaos, and loving determination. His birth was scary for mom and dad; a tight nuchal cord left Charlie gray, limp and not breathing after birth. He needed resuscitation, and had trouble breastfeeding over the next several months.
During this time, his Marine dad was diagnosed with stage 4B Hodgkins Lymphoma. As a family, we launched into a motivational fight, the likes of which we had never faced before. By 9 months old, it became apparent to Charlie's pediatrician that he wasn't growing very well anymore. His height and weight percentiles had dropped to below zero, and his head size had dramatically decreased as well. He was no longer meeting his milestones, and was yet to roll over. Since that time, Charlie's dad has finished chemo, and is in remission, yet suffers from a crushed spine, side effects from treatment, and daily pain as his body attempts to heal from his lesions.
Charlie is now almost 1.5 years old...and rolled over for the first time just last week! He has had countless blood tests, doctor's visits, and receives biweekly physical, occupational, speech, and feeding therapies. His height and weight remain slow, but his head is now growing at a near-alarming rate. At 14 months old, our Charlie Bear learned to scoot across the floor on his bottom! Our determined little Bear loves to play with balls, and by tossing one around the room found just the motivation he needed to start the scoot. His hypotonia and ataxia prevent him from learning any other coordinated movement just yet, but we know our Bear will get there!
Despite chromosomal micro array, blood tests, and other specific testing for genetic cause, we don't have a reason for our Bear's puzzle pieces. He is over 6 months behind, developmentally, with his 10 month lag in gross motor skills being his biggest obstacle. As a family, we are looking for help to raise money for Whole Exome Sequencing (WES). This blood test looks at his DNA on such a specific level, that we are hoping to piece together all of his little quirks and come up with the whole picture. As a new technology, WES is still very expensive given the exactitude and time needed to sequence. What will this completed puzzle show? Well, a beautiful portrait of what makes our Bear so incredible.
Our goal is to identify exactly what he will need in life to excel as he is made, and to bring hope and answers to other families who have children designed similar to Charlie. As our Bear scoots forward in life, he remains charming and happy, full of laughter and love. Please consider helping him scoot forward with as much clarity as we can gain from this incredible technology, and consider any donation to Rare Genomics' Amplify Hope, and Charlie Bear's Scoot for Hope.