Sheldon was born April 17, 2013 after an uneventful and relatively easy pregnancy and delivery. He failed his newborn hearing test in the hospital but we were not overly concerned. He passed the hearing test at the audiologist when he was 3 weeks old and we thought everything was fine. He slept a lot during the first 4 weeks, but seemed happy and healthy.
At his 2 month checkup, the pediatrician was concerned about his overall development so she sent him for a brain MRI. The MRI came back normal and we were relieved. My husband said “we will never worry about Sheldon’s health again.” (We couldn’t have been more wrong!) We didn’t worry about his development for another 6 weeks until we realized he wasn’t meeting anymilestones.
By the time we were at the 4 month checkup, we had a list of concerns for the pediatrician. She agreed that Sheldon was behind and his head wasn’t keeping up with the growth curve. We were referred to a geneticist for blood work and a neurosurgeon for a CT scan. The CT scan and most of the bloodwork came back normal. It was very discouraging that every test was saying our son was normal, but he clearly was not. In addition to not meeting the developmental milestones Sheldon began to cry. He cried for months. He would cry all day long except when he was being fed. Our saving grace was that he would sleep pretty well at night. Those months were hard and seemed longer than just a few months
Four months later, when Sheldon was almost 9 months old, the geneticist called with results from the microcephaly bloodwork. There was a diagnosis of a nonsense mutation on the FoxG1gene. (We believe he may be the only child with a nonsense mutation.) We were surprised that there was a diagnosis because every other test came back normal. In the 4 months since the blood draw, we had talked ourselves into and out of quite a few diagnoses. While the geneticist was telling us about FoxG1, we started Googling it and we found the foxg1.org website. The list of common symptoms described Sheldon perfectly. We couldn’t believe it. We finally found an answer! Although we found an answer, it was tough to know that there was not a lot that could be done for our son. The silver lining to our answer was that we found the FoxG1 parent support group. We have a lifeline to parents who understand our children’s condition.
Today Sheldon is a happy 19 month old. His eyes are “stuck” in a convergence and we are waiting on a repeat brain MRI before we schedule strabismus surgery. He is taking medication to control his seizures. He doesn’t sit, stand or walk, but he rolls and wiggles all around our house. He is spoon-fed pureed food and is maintaining a healthy weight. He doesn’t talk or even babble, but he doesn’t cry. His laugh is contagious and is the sweetest sound in the world.
Sheldon was born April 17, 2013 after an uneventful and relatively easy pregnancy and delivery. He failed his newborn hearing test in the hospital but we were not overly concerned. He passed the hearing test at the audiologist when he was 3 weeks old and we thought everything was fine. He slept a lot during the first 4 weeks, but seemed happy and healthy.
At his 2 month checkup, the pediatrician was concerned about his overall development so she sent him for a brain MRI. The MRI came back normal and we were relieved. My husband said “we will never worry about Sheldon’s health again.” (We couldn’t have been more wrong!) We didn’t worry about his development for another 6 weeks until we realized he wasn’t meeting anymilestones.
By the time we were at the 4 month checkup, we had a list of concerns for the pediatrician. She agreed that Sheldon was behind and his head wasn’t keeping up with the growth curve. We were referred to a geneticist for blood work and a neurosurgeon for a CT scan. The CT scan and most of the bloodwork came back normal. It was very discouraging that every test was saying our son was normal, but he clearly was not. In addition to not meeting the developmental milestones Sheldon began to cry. He cried for months. He would cry all day long except when he was being fed. Our saving grace was that he would sleep pretty well at night. Those months were hard and seemed longer than just a few months
Four months later, when Sheldon was almost 9 months old, the geneticist called with results from the microcephaly bloodwork. There was a diagnosis of a nonsense mutation on the FoxG1gene. (We believe he may be the only child with a nonsense mutation.) We were surprised that there was a diagnosis because every other test came back normal. In the 4 months since the blood draw, we had talked ourselves into and out of quite a few diagnoses. While the geneticist was telling us about FoxG1, we started Googling it and we found the foxg1.org website. The list of common symptoms described Sheldon perfectly. We couldn’t believe it. We finally found an answer! Although we found an answer, it was tough to know that there was not a lot that could be done for our son. The silver lining to our answer was that we found the FoxG1 parent support group. We have a lifeline to parents who understand our children’s condition.
Today Sheldon is a happy 19 month old. His eyes are “stuck” in a convergence and we are waiting on a repeat brain MRI before we schedule strabismus surgery. He is taking medication to control his seizures. He doesn’t sit, stand or walk, but he rolls and wiggles all around our house. He is spoon-fed pureed food and is maintaining a healthy weight. He doesn’t talk or even babble, but he doesn’t cry. His laugh is contagious and is the sweetest sound in the world.