I am Kathleen, a 30 year-old mother who lives in Quebec. After several years together, my husband and I decided to have a child, and Beatrice was born at after a 38-week pregnancy. The delivery was difficult-24 hours of contractions and when Beatrice was born the doctor had to clear her airways. From the start Beatrice cried non-stop, up to 20 hours per day and slept very little; had gastric reflux and probably a milk intolerance. At first we had no idea she had a problem, even though she cried so much.
Beatrice’s cranial measurement of 31.5 cm at birth (very small!) but my husband’s sister was born measuring 31 cm so we did not worry when she was a newborn. But when Béatrice was 3 months, she began to drop off her growth curve. So she not only had a small head at birth like her aunt, but her head was not growing enough and that’s when I started to worry …
At five months, Beatrice started having infantile spasms; they would be 10-30 seconds each and last anywhere from 5-30 minutes. In the beginning they were very small and we thought it was perhaps her reflux… and I think it was some denial too.
We finally talked to our pediatrician about the spasms when Beatrice was 7 ½ months old, when we had the diagnosis of FOXG1. At that time, the spasms became more intense and the doctors started her on Sabril when she was 8 ½ months old, and if she continues to have them she will have the ACTH steroid injections. We also noticed she wasn’t meeting her milestones, she cannot put objects in her mouth, has difficulty coordinating the movements of her arm to pick up objects, and she was not very interested in toys. We did however, find out that Beatrice loves music!
When she was 6 months old, the doctors did a scan and discovered that Beatrice has complete agenesis (absence) of the corpus callosum. Blood tests were done to check for several disorders- I was really anxious and Beatrice was still not sleeping a lot. We would get to sleep around 5:00 am for a few hours but that was it…..my husband and I were exhausted. On March 4, 2013 we got a call from our pediatrician; the CGH had demonstrated a deletion of FOXG1 on chromosome 14. Twenty genes are affected but FOXG1 is the most important because it is important for brain development. He was explaining the agenesis of the corpus callosum and microcephaly … That day the sky fell on my head …
I did some reading on the internet and I quickly realized that: 1-this is this a rare, newly discovered syndrome, 2- that the medical community knows very little about FOXG1 because it is so newly discovered , and 3-that Beatrice would probably never walk, she probably never speak and she was at risk of having seizures. She would have moderate to profound intellectual disabilities … I also realized that sleep disturbances and irritability were related to this syndrome. These results have been very difficult, but I finally have answers my questions.
Currently, Beatrice is 9 months. She holds her head up a little but cannot sit and has minimal control of her arms. She has hypotonia (low muscle tone) in her trunk and hypertonia (high muscle tone) in her arms and legs and has physical therapy twice a week. We don’t know how well she sees or even if she can- she cannot follow objects with her eyes. However, she is eating well and does a great job drinking her milk and is able to eat cereals, vegetables, fruits and smooth meat. She cries less, but sleep is still difficult, and she takes Klonopin and melatonin to sleep which helps a bit. She takes medications for constipation and reflux in addition to the Sabril for the Infantile Spasms. It’s really hard to have a child with disabilities, but she brings a lot of joy to our lives and we love her very very much. Beatrice is really starting to blossom, smiling and babbling more and laughing which lights up her whole face! It heIps that I found the International FoxG1Foundation and their Facebook support group where I can speak with parents who are dealing with the same issues that we are. We’re taking one day at a time and dealing with things as they come. Hopefully each day will be better than the last!
~Béatrice, Mathieu and Kathleen J
I am Kathleen, a 30 year-old mother who lives in Quebec. After several years together, my husband and I decided to have a child, and Beatrice was born at after a 38-week pregnancy. The delivery was difficult-24 hours of contractions and when Beatrice was born the doctor had to clear her airways. From the start Beatrice cried non-stop, up to 20 hours per day and slept very little; had gastric reflux and probably a milk intolerance. At first we had no idea she had a problem, even though she cried so much.
Beatrice’s cranial measurement of 31.5 cm at birth (very small!) but my husband’s sister was born measuring 31 cm so we did not worry when she was a newborn. But when Béatrice was 3 months, she began to drop off her growth curve. So she not only had a small head at birth like her aunt, but her head was not growing enough and that’s when I started to worry …
At five months, Beatrice started having infantile spasms; they would be 10-30 seconds each and last anywhere from 5-30 minutes. In the beginning they were very small and we thought it was perhaps her reflux… and I think it was some denial too.
We finally talked to our pediatrician about the spasms when Beatrice was 7 ½ months old, when we had the diagnosis of FOXG1. At that time, the spasms became more intense and the doctors started her on Sabril when she was 8 ½ months old, and if she continues to have them she will have the ACTH steroid injections. We also noticed she wasn’t meeting her milestones, she cannot put objects in her mouth, has difficulty coordinating the movements of her arm to pick up objects, and she was not very interested in toys. We did however, find out that Beatrice loves music!
When she was 6 months old, the doctors did a scan and discovered that Beatrice has complete agenesis (absence) of the corpus callosum. Blood tests were done to check for several disorders- I was really anxious and Beatrice was still not sleeping a lot. We would get to sleep around 5:00 am for a few hours but that was it…..my husband and I were exhausted. On March 4, 2013 we got a call from our pediatrician; the CGH had demonstrated a deletion of FOXG1 on chromosome 14. Twenty genes are affected but FOXG1 is the most important because it is important for brain development. He was explaining the agenesis of the corpus callosum and microcephaly … That day the sky fell on my head …
I did some reading on the internet and I quickly realized that: 1-this is this a rare, newly discovered syndrome, 2- that the medical community knows very little about FOXG1 because it is so newly discovered , and 3-that Beatrice would probably never walk, she probably never speak and she was at risk of having seizures. She would have moderate to profound intellectual disabilities … I also realized that sleep disturbances and irritability were related to this syndrome. These results have been very difficult, but I finally have answers my questions.
Currently, Beatrice is 9 months. She holds her head up a little but cannot sit and has minimal control of her arms. She has hypotonia (low muscle tone) in her trunk and hypertonia (high muscle tone) in her arms and legs and has physical therapy twice a week. We don’t know how well she sees or even if she can- she cannot follow objects with her eyes. However, she is eating well and does a great job drinking her milk and is able to eat cereals, vegetables, fruits and smooth meat. She cries less, but sleep is still difficult, and she takes Klonopin and melatonin to sleep which helps a bit. She takes medications for constipation and reflux in addition to the Sabril for the Infantile Spasms. It’s really hard to have a child with disabilities, but she brings a lot of joy to our lives and we love her very very much. Beatrice is really starting to blossom, smiling and babbling more and laughing which lights up her whole face! It heIps that I found the International FoxG1Foundation and their Facebook support group where I can speak with parents who are dealing with the same issues that we are. We’re taking one day at a time and dealing with things as they come. Hopefully each day will be better than the last!
~Béatrice, Mathieu and Kathleen J