If you read my first post, you might be wondering, “What is CHARGE syndrome?” CHARGE is an acronym that stands for: Coloboma of the eye (a hole in one of the structures of the eye), Heart defects, Atresia of the Choanae or Choanal Atresia (blockage in the nasal airway), Restricted growth and development, Genital abnormalities, and Ear abnormalities. These are the major and most common problems found in CHARGE syndrome. Those who have this syndrome often face a wide range of other issues as well.
After genetic testing, this was the confirmed diagnosis for Rhett at 6 weeks old. Rhett has a gene mutation on the CHD7 gene found on chromosome 8. Because of this mutation, part of his anatomy did not fully develop. We currently know that Rhett has Choanal Atresia, some hearing loss in both ears, and inner ear abnormalities. We also know that he has swallowing difficulties and coordination problems when eating. This makes it difficult for him to eat food by mouth. He is missing his semi-circular canals in his inner ear, which will affect his balance. He also has some low muscle tone in his upper body, which is putting him a little behind with hitting his milestones. We hope that we have found all the problems with Rhett, but there are times when some things are not found until later. We are thankful that his more serious issue, the Choanal Atresia, will be fixed once he has surgery. Although the Choanal Atresia was life threatening as a newborn, we have been blessed that he is stable, growing, and thriving because of his trach.
I have questioned and asked, “Why did this have to happen to my baby?”, more times than I care to admit. The truth is, it’s just one of those things. There is no answer as to why it happened. We could not control it or prevent it. It is nothing that Dale or I passed onto Rhett. When a person is born with this syndrome, it is usually the first occurrence in the family. It was just something that happened. I do know that God makes no mistakes. I do know that Rhett was created exactly how he was meant to be. I do know that he is perfectly made. “Every good and perfect gift is from above,” James 1:17.
Rhett is a beautiful gift that Dale and I have been fortunate enough to receive. I know we will continue to face trials throughout Rhett’s life, and I know he will to have to work extra hard to get where he needs to be. Just remember, Rhett is a fighter and his perseverance already shows in his sweet personality. I hope that you all will see the beauty of God’s work in Rhett’s life as he continues to charge on!