After a pregnancy with almost no problems besides gestational diabetes and maternal high blood pressure, Abigail was born via c-section on June 30, 2007, a perfect little baby girl. We had been living in New York but Abigail was born in Pennsylvania, my home state. Abigail had passed all her newborn screenings with flying colors and we prepared to transfer and move to Virginia for four years.
At Abigail’s four month well visit, her then pediatrician thought the plates in her skull were fusing together so she went for an x-ray and CAT scan. I was told the skull plates were fine and there weren’t any other issues to be concerned about. We had switched pediatricians at this time and I didn’t think anything about it. We had a perfectly healthy 6 month old and the only issue she had at the time was reflux, thought to be related to a milk protein allergy. We did all the “typical” stuff with Abigail regarding solid foods, exposure to toys, etc. Why not, we had a “typical” child.
At the time of Abigail’s nine month well visit, I brought up the issue of her not sitting independently and the awful eye crossing that she hadn’t grown out of yet. Again, I was told she was a healthy, typical child who might be a little delayed because of eye issues and we were referred to a pediatric eye doctor. We saw the eye doctor who diagnosed Abigail as farsighted, put her in glasses and said, wait and see. We tried patching with the glasses and when that didn’t do much, Abigail had a dual strabismus surgery to repair the muscles in her eyes. The thought was she would start to catch up in her physical abilities once she could see correctly.
At one of her post op visits to her eye doctor, he ordered an MRI of her eyes and brain. We had scheduled a developmental pediatrician appointment a few months before and he wanted the MRI results to be available at the appointment. This was November of 2008.
Expecting to hear that everything was fine with the MRI results, imagine my total shock at hearing there were a myriad of issues in Abigail’s brain and the diagnosis of Microcephaly, Cerebral Palsy, and possibly other diagnoses. I honestly don’t remember a lot of that visit, but the date is imbedded in my brain – November 11, 2008.
One of the best decisions we made was to make an appointment to get a second opinion from a neurologist. At the time he diagnosed Abigail with Microcephaly with global developmental delays. We had no idea what her future would hold but we started the cycle of Early Intervention, then private physical, speech and occupational therapists, along with a few specialists. Life continued and we had a second daughter.
On Abigail’s two year and six month birthday she had her first grand mal seizure. Back to the neurologist we go. She hadn’t had any other seizures and none showed on the EEG so we opted to not medicate, at the time. It was possible she wouldn’t have any other seizures until later in life. Unfortunately, she does have a seizure disorder and has been medicated for over 3 years.
In November of 2010, Abigail’s neurologist noticed Abigail’s hand wringing and mouthing and asked me if her hands and feet were cold. Of course, I answered yes and Rett Syndrome was discussed and the blood work ordered. After doing my due diligence on the internet and talking to her therapists, we thought Abigail was the poster child for Rett Syndrome. Unfortunately all her blood tests came back negative. Over the next year and a half she was tested for all three variants of Rett Syndrome and all came back negative. By this time we had transferred to Boston and had an entirely new team of specialists, therapists and school support. In November, 2012 (what is it with November!), I took Abigail to the Genetics Department at Children’s Hospital Boston. A genetic microarray blood panel was done and in January, 2013, we received confirmation that Abigail did indeed have a FOXG1 mutation, a variant of Rett Syndrome.
In hindsight, I realize now the issues Abigail had with feeding, sleeping, reflux, poor head control and other physical delays were all related to her genetic condition. In a way it’s a good thing we were told for so long there was nothing “wrong” with Abigail as she is a fantastic oral eater and can drink out of a straw, even though she has poor motor issues. Plus, we make her work a little harder, even when she wants to be lazy.
Abigail cannot sit independently or walk, is nonverbal, and has reflux and uncontrolled seizures. She’s an extremely happy child and loves meeting new people and going new places. She just started Kindergarten this year and loves it. We wouldn’t change her for the world.
After a pregnancy with almost no problems besides gestational diabetes and maternal high blood pressure, Abigail was born via c-section on June 30, 2007, a perfect little baby girl. We had been living in New York but Abigail was born in Pennsylvania, my home state. Abigail had passed all her newborn screenings with flying colors and we prepared to transfer and move to Virginia for four years.
At Abigail’s four month well visit, her then pediatrician thought the plates in her skull were fusing together so she went for an x-ray and CAT scan. I was told the skull plates were fine and there weren’t any other issues to be concerned about. We had switched pediatricians at this time and I didn’t think anything about it. We had a perfectly healthy 6 month old and the only issue she had at the time was reflux, thought to be related to a milk protein allergy. We did all the “typical” stuff with Abigail regarding solid foods, exposure to toys, etc. Why not, we had a “typical” child.
At the time of Abigail’s nine month well visit, I brought up the issue of her not sitting independently and the awful eye crossing that she hadn’t grown out of yet. Again, I was told she was a healthy, typical child who might be a little delayed because of eye issues and we were referred to a pediatric eye doctor. We saw the eye doctor who diagnosed Abigail as farsighted, put her in glasses and said, wait and see. We tried patching with the glasses and when that didn’t do much, Abigail had a dual strabismus surgery to repair the muscles in her eyes. The thought was she would start to catch up in her physical abilities once she could see correctly.
At one of her post op visits to her eye doctor, he ordered an MRI of her eyes and brain. We had scheduled a developmental pediatrician appointment a few months before and he wanted the MRI results to be available at the appointment. This was November of 2008.
Expecting to hear that everything was fine with the MRI results, imagine my total shock at hearing there were a myriad of issues in Abigail’s brain and the diagnosis of Microcephaly, Cerebral Palsy, and possibly other diagnoses. I honestly don’t remember a lot of that visit, but the date is imbedded in my brain – November 11, 2008.
One of the best decisions we made was to make an appointment to get a second opinion from a neurologist. At the time he diagnosed Abigail with Microcephaly with global developmental delays. We had no idea what her future would hold but we started the cycle of Early Intervention, then private physical, speech and occupational therapists, along with a few specialists. Life continued and we had a second daughter.
On Abigail’s two year and six month birthday she had her first grand mal seizure. Back to the neurologist we go. She hadn’t had any other seizures and none showed on the EEG so we opted to not medicate, at the time. It was possible she wouldn’t have any other seizures until later in life. Unfortunately, she does have a seizure disorder and has been medicated for over 3 years.
In November of 2010, Abigail’s neurologist noticed Abigail’s hand wringing and mouthing and asked me if her hands and feet were cold. Of course, I answered yes and Rett Syndrome was discussed and the blood work ordered. After doing my due diligence on the internet and talking to her therapists, we thought Abigail was the poster child for Rett Syndrome. Unfortunately all her blood tests came back negative. Over the next year and a half she was tested for all three variants of Rett Syndrome and all came back negative. By this time we had transferred to Boston and had an entirely new team of specialists, therapists and school support. In November, 2012 (what is it with November!), I took Abigail to the Genetics Department at Children’s Hospital Boston. A genetic microarray blood panel was done and in January, 2013, we received confirmation that Abigail did indeed have a FOXG1 mutation, a variant of Rett Syndrome.
In hindsight, I realize now the issues Abigail had with feeding, sleeping, reflux, poor head control and other physical delays were all related to her genetic condition. In a way it’s a good thing we were told for so long there was nothing “wrong” with Abigail as she is a fantastic oral eater and can drink out of a straw, even though she has poor motor issues. Plus, we make her work a little harder, even when she wants to be lazy.
Abigail cannot sit independently or walk, is nonverbal, and has reflux and uncontrolled seizures. She’s an extremely happy child and loves meeting new people and going new places. She just started Kindergarten this year and loves it. We wouldn’t change her for the world.