Noah was born on February 5, 2007 at 41 weeks. He was delivered via emergency C-section after 9 ½ hours of labor and fetal distress. He was a healthy baby boy or so we thought. The day he came home from the hospital he cried non stop. He was diagnosed at his newborn checkup with colic. Everyday the “colic” worsened. At 5 weeks old Noah’s crying all day long turned into screaming all day long and eventually he created a new pattern. He would start off crying, lead into screaming, then that lead into holding his breath, and then he would begin to arch his back, raise his arms up over his head and stiffen out. After a few seconds he body would become limp. Just like the postictal state after one has a seizure. I can not even begin to count the times we were at the pediatrician’s office or the ER for this. Everyone had their own answer…colic, babies hold their breath, immature bowels etc. No one ever mentioned seizures.
At 4 months old, my husband was in the kitchen fixing a bottle for Noah. Noah was screaming his head off and then all of a sudden stopped. He ran into the room to find Noah not breathing for a few seconds and turning blue. Pediatrician admitted him into the hospital for 3 days of testing. An EEG was done to rule out seizures. It came back clear but the MRI showed two arachnoid cysts (one on each temple) and partial agenesis of corpsus callosum (PACC). I was frantic when I received the tests results as he was only 4 months old.
At 6 months old we saw the neurosurgeon. He assured us that the PACC was so small (smallest he has ever seen in his exact words) and the arachnoid cysts were small as well. Told us that we had nothing to worry about. Noah would be fine and may have a little learning difficulty at school age. We were so relieved. However, he was not worried that Noah could not sit up by himself yet or roll at 6 months old. Noah also had a “breath holding episode” in front of him. He did not seem worried by it.
At 10 months old Noah began services with ECI as he was developmentally delayed. He could only roll from back to front and it was not all the time. He had poor head control, hated tummy time (screamed and held his breath every time he was on his tummy), poor trunk control, could not weight bear, and had cortical vision impairment.
The “breath holding episodes” only got worse over time. Noah would have 20 or more a day. He would cry all day long. On September 26, 2008 at 19 months old, he had his first grand mal seizure. He was taken to the ER via EMS and was admitted for 4 days. He was immediately put on Phenobarbital by IV. Within 20 minutes he was a completely different child…literally. The crying, screaming and breath holding stopped. He smiled, reached for toys, played with the toys. He never reached and played with toys prior to this. He had another EEG while in the hospital but it too showed no activity.
After Noah’s grand mal seizure he was diagnosed with Infantile Spasms. The doctors were able to trace back the history of his “breath holding episodes” that began at 5 weeks old to seizures. At first the medicine seemed to help but after a couple of months it was back to the drawing board. We had several ER trips for seizures as well. New medications were introduced but nothing seemed to control the seizures and eventually Diastat was ineffective as well.
We eventually switched to a new Neurologist at a different hospital as the one we were at still believed nothing was wrong with Noah since his Microarray genetic test was negative. At our first appointment with the new Neurologist, he wanted to test Noah for Rett Syndrome as he watched Noah’s hand movements. He tested negative for Retts and CDKL5. He told me that the PACC generally means something genetic so over the next 2 years, he ran various genetic tests but everything came back negative.
His neurologist knew I wanted more kids and would ask me at most appointments about this and the concern I had. In May 2011 we had this discussion again and decided to do another Microarray to see if something would come back. Two days later we ended up having to go to the ER in Houston for seizures. They admitted him and it just so happened that his neurologist was the attending doctor that week. The next day he called in the genetic team to access Noah. One of the fellows had just come back from a FOXG1 conference in Canada. She wanted to test him for this a few other things due to his movements. On June 17, 2011 we received the greatest phone call ever. We had a diagnosis….FOXG1.
I know its odd to be excited about a diagnosis, but we already knew what was wrong with him just we did not have a name. Nothing has changed except we have a diagnosis and a new family to share it with…our Fox family. The doctors could not tell us much about FOXG1 since it was so new and rare. The internet had very little information available as well. Shortly after our diagnosis, I found Heather Norwood’s group on Circle of Mom’s. I rarely got on there so in January 2012 I created the FOXG1 group page on Facebook. My goal was not only to find other families out there but to find other families that had other children besides their child with FOXG1. I needed to show my husband it was ok to have another child. Noah is still our only child but hopefully in time he will have siblings. The first family I found was Kate Jones. We now have found 121 kids with FOXG1 and every week our Fox family seems to grow.
Noah is still delayed as he can not sit unsupported very long, stand, walk, crawl, talk, feed himself. He is a highly determined 7 year old though. He tries to feed himself, he has a small limited vocabulary, has attitude, he is sitting up for at least 5 minutes unsupported, he can roll like crazy, army crawl and scoot like a champ. He still has seizures as well. He is currently on 5 different seizure medications and on May 18, 2012 had VNS surgery for seizures. VNS has drastically cut down on the amount of seizures he has. He went from 50-100+ day (every 4 -7 days) to now 1-25 day. This past June he had a G-tube placed due to not gaining weight.
In October 2012 I was asked to be part of and help form the International FOXG1 Foundation. I currently serve as the secretary. Noah was born on February 5, 2007 at 41 weeks. He was delivered via emergency C-section after 9 ½ hours of labor and fetal distress. He was a healthy baby boy or so we thought. The day he came home from the hospital he cried non stop. He was diagnosed at his newborn checkup with colic. Everyday the “colic” worsened. At 5 weeks old Noah’s crying all day long turned into screaming all day long and eventually he created a new pattern. He would start off crying, lead into screaming, then that lead into holding his breath, and then he would begin to arch his back, raise his arms up over his head and stiffen out. After a few seconds he body would become limp. Just like the postictal state after one has a seizure. I can not even begin to count the times we were at the pediatrician’s office or the ER for this. Everyone had their own answer…colic, babies hold their breath, immature bowels etc. No one ever mentioned seizures.
At 4 months old, my husband was in the kitchen fixing a bottle for Noah. Noah was screaming his head off and then all of a sudden stopped. He ran into the room to find Noah not breathing for a few seconds and turning blue. Pediatrician admitted him into the hospital for 3 days of testing. An EEG was done to rule out seizures. It came back clear but the MRI showed two arachnoid cysts (one on each temple) and partial agenesis of corpsus callosum (PACC). I was frantic when I received the tests results as he was only 4 months old.
At 6 months old we saw the neurosurgeon. He assured us that the PACC was so small (smallest he has ever seen in his exact words) and the arachnoid cysts were small as well. Told us that we had nothing to worry about. Noah would be fine and may have a little learning difficulty at school age. We were so relieved. However, he was not worried that Noah could not sit up by himself yet or roll at 6 months old. Noah also had a “breath holding episode” in front of him. He did not seem worried by it.
At 10 months old Noah began services with ECI as he was developmentally delayed. He could only roll from back to front and it was not all the time. He had poor head control, hated tummy time (screamed and held his breath every time he was on his tummy), poor trunk control, could not weight bear, and had cortical vision impairment.
The “breath holding episodes” only got worse over time. Noah would have 20 or more a day. He would cry all day long. On September 26, 2008 at 19 months old, he had his first grand mal seizure. He was taken to the ER via EMS and was admitted for 4 days. He was immediately put on Phenobarbital by IV. Within 20 minutes he was a completely different child…literally. The crying, screaming and breath holding stopped. He smiled, reached for toys, played with the toys. He never reached and played with toys prior to this. He had another EEG while in the hospital but it too showed no activity.
After Noah’s grand mal seizure he was diagnosed with Infantile Spasms. The doctors were able to trace back the history of his “breath holding episodes” that began at 5 weeks old to seizures. At first the medicine seemed to help but after a couple of months it was back to the drawing board. We had several ER trips for seizures as well. New medications were introduced but nothing seemed to control the seizures and eventually Diastat was ineffective as well.
We eventually switched to a new Neurologist at a different hospital as the one we were at still believed nothing was wrong with Noah since his Microarray genetic test was negative. At our first appointment with the new Neurologist, he wanted to test Noah for Rett Syndrome as he watched Noah’s hand movements. He tested negative for Retts and CDKL5. He told me that the PACC generally means something genetic so over the next 2 years, he ran various genetic tests but everything came back negative.
His neurologist knew I wanted more kids and would ask me at most appointments about this and the concern I had. In May 2011 we had this discussion again and decided to do another Microarray to see if something would come back. Two days later we ended up having to go to the ER in Houston for seizures. They admitted him and it just so happened that his neurologist was the attending doctor that week. The next day he called in the genetic team to access Noah. One of the fellows had just come back from a FOXG1 conference in Canada. She wanted to test him for this a few other things due to his movements. On June 17, 2011 we received the greatest phone call ever. We had a diagnosis….FOXG1.
I know its odd to be excited about a diagnosis, but we already knew what was wrong with him just we did not have a name. Nothing has changed except we have a diagnosis and a new family to share it with…our Fox family. The doctors could not tell us much about FOXG1 since it was so new and rare. The internet had very little information available as well. Shortly after our diagnosis, I found Heather Norwood’s group on Circle of Mom’s. I rarely got on there so in January 2012 I created the FOXG1 group page on Facebook. My goal was not only to find other families out there but to find other families that had other children besides their child with FOXG1. I needed to show my husband it was ok to have another child. Noah is still our only child but hopefully in time he will have siblings. The first family I found was Kate Jones. We now have found 121 kids with FOXG1 and every week our Fox family seems to grow.
Noah is still delayed as he can not sit unsupported very long, stand, walk, crawl, talk, feed himself. He is a highly determined 7 year old though. He tries to feed himself, he has a small limited vocabulary, has attitude, he is sitting up for at least 5 minutes unsupported, he can roll like crazy, army crawl and scoot like a champ. He still has seizures as well. He is currently on 5 different seizure medications and on May 18, 2012 had VNS surgery for seizures. VNS has drastically cut down on the amount of seizures he has. He went from 50-100+ day (every 4 -7 days) to now 1-25 day. This past June he had a G-tube placed due to not gaining weight.
In October 2012 I was asked to be part of and help form the International FOXG1 Foundation. I currently serve as the secretary.