Carlie was born on June 5, 2012. From the start things were not quite right with our angel. She had jaundice and feeding issues. At 3 weeks, the crying started, and it didn’t stop. We knew something was wrong with her, but people kept telling us things like, “babies cry, it is what they do”. We didn’t know how to help her. Finally, atabout 4 months, we heard for the first time “failure to thrive”, and suddenly, we had the attention of the doctors. Every appointment led to more bad news, and every piece of bad news led to another specialist. She was diagnosed with microcephaly, torticollis, developmental delay, hypertonia, reflux, intestinal problems, sensory processing disorder, and finally after a barrage of testing, the one that explained it all: FOXG1 syndrome.
Carlie has a unique type of FOXG1, where her deletion consists of a bunch of genes right next to but not including FOXG1. Her symptoms are caused because the FOXG1 gene cannot function correctly due to this proximal deletion.
Around 14 months, the crying started to cease, and our family could breathe again. We had a diagnosis and a wonderful parent support group in the FOXG1 foundation. We stopped feeling sorry for ourselves and Carlie, and started recognizing the beauty and perfection of what God had given us. Carlie has a beautiful, contagious joy; it is impossible not to be happy when you are around her. She is our hero, working so hard day in and day out to do things we thought she would never be able to do. Last month she took her first steps, and the smile on her face showed us that she knew exactly how big of a deal that was.
Carlie still doesn’t sleep through the night, she still has sensory processing disorder, and it is a struggle for her to do even the simplest tasks. She cannot talk, but she understands us. One day we hope she can tell us what she is thinking, but until then we do our best to communicate. There are plenty of struggles, but at the end of the day, we laugh more than we cry. There is no doubt in our minds that Carlie has a lot more to teach us, her siblings and her friends about happiness and life.
Carlie was born on June 5, 2012. From the start things were not quite right with our angel. She had jaundice and feeding issues. At 3 weeks, the crying started, and it didn’t stop. We knew something was wrong with her, but people kept telling us things like, “babies cry, it is what they do”. We didn’t know how to help her. Finally, atabout 4 months, we heard for the first time “failure to thrive”, and suddenly, we had the attention of the doctors. Every appointment led to more bad news, and every piece of bad news led to another specialist. She was diagnosed with microcephaly, torticollis, developmental delay, hypertonia, reflux, intestinal problems, sensory processing disorder, and finally after a barrage of testing, the one that explained it all: FOXG1 syndrome.
Carlie has a unique type of FOXG1, where her deletion consists of a bunch of genes right next to but not including FOXG1. Her symptoms are caused because the FOXG1 gene cannot function correctly due to this proximal deletion.
Around 14 months, the crying started to cease, and our family could breathe again. We had a diagnosis and a wonderful parent support group in the FOXG1 foundation. We stopped feeling sorry for ourselves and Carlie, and started recognizing the beauty and perfection of what God had given us. Carlie has a beautiful, contagious joy; it is impossible not to be happy when you are around her. She is our hero, working so hard day in and day out to do things we thought she would never be able to do. Last month she took her first steps, and the smile on her face showed us that she knew exactly how big of a deal that was.
Carlie still doesn’t sleep through the night, she still has sensory processing disorder, and it is a struggle for her to do even the simplest tasks. She cannot talk, but she understands us. One day we hope she can tell us what she is thinking, but until then we do our best to communicate. There are plenty of struggles, but at the end of the day, we laugh more than we cry. There is no doubt in our minds that Carlie has a lot more to teach us, her siblings and her friends about happiness and life.