Hi, I’m Sian, and this is my story…
Our first daughter, Holly, was born after 8 years of infertility and IVF treatment. We had been told that we would need further IVF if we wanted to have any more children; so imagine our shock when we discovered I was pregnant naturally at the age of 40! Straight away there were concerns and I was told that there was a slight possibility that an extra chromosome (XXX Syndrome) was contained in the placenta and was not in the blood stream – but this could not be confirmed until they could test the umbilical cord at birth (Amy didn’t have this condition). At my 20 week scan, Holly joined me as my husband, Terry, was away on business. Nothing could prepare me for the shock of hearing the radiographer on the phone to Oxford saying he suspected brain damage. Regular scans had revealed a very small head indicating microcephaly and termination was offered on a regular basis – this I could not accept.
The day after Amy’s birth, she had a scan and the consultant told me to enjoy my baby – she was normal. Her 6 week check was also fine, but then things began to get difficult. Amy did breastfeed, but it seemed like she was feeding constantly. She also began to cry inconsolably most of the time, and rarely slept. We had many trips to the GP, who said she was suffering from colic but I wasn’t convinced. At 3.5 months old Amy was admitted into hospital, I stayed with her while Terry stayed at home to look after Holly. The next morning, during rounds, the consultant and her students came into our room. She examined Amy briefly and then told me in front of the students that Amy was severely brain damaged as well as having gastro-esophageal reflux. The consultant agreed to return later in the afternoon to speak to my husband and me.
I was stunned. My initial reaction was that somehow Amy was unclean and I couldn’t pick her up and cuddle her. I am glad to say that this was the only time I felt this way. While I waited for Terry to join me, I did several laps of the hospital with Amy crying my eyes out. When we saw the consultant, she said she would arrange an immediate MRI to confirm her diagnosis of microcephaly. Unbelievably, we had to wait about 6 weeks for the results which confirmed severe brain damage. When Amy was about 18 months, we were referred to the Genetics team at Oxford. After a couple of lengthy discussions in which a full history was discussed and photos taken, a blank was drawn and no syndrome identified.
Life, such as it was, continued. It wasn’t easy, and we had a huge learning curve ahead of us. Around the age of two, Amy was rushed into hospital with her first seizures. Over the next few years, these hospital dashes became the norm and the 999 switchboard came to know us! Holly had to come with me on occasion as Terry was away- she saw many things in the Accident & Emergency Department that a child of her age should never see. In these early years, Amy also had a convergent squint (cross-eyed) which was operated on successfully. As time went on, I continued to maintain hope that she would learn to sit up and couldn’t get around the fact that this might not happen. We had weekly physiotherapy, as well as hospital appointments for the eyes, with the dietician, orthotics, OT, speech and language etc – it seemed that most days involved an appointment relating to Amy.
Over the years, Amy developed certain symptoms – fascination with her hands, grinding her teeth, crying for no apparent reason. When she was about 5 years old she was tested for Rett Syndrome. After months of waiting the test came back negative – I wasn’t surprised as she didn’t have the initial normal development even though she had many of the characteristics.
Some of Amy’s characteristics became more pronounced over the years. For example, the fascination with her hands became a real problem – at every opportunity, she would thrust them deep into her mouth. Although she suffered with reflux, she never made herself sick doing this! We tried everything we could to prevent her from chewing her hands – splints, teething items, painting her nails with anti-nail biting liquid, all to no avail. We were then referred to a clinical psychologist who has been incredibly supportive over the years but nothing helped. Deep down, I had a nagging feeling that we might be trying to stop Amy doing things that were part of her genetic make-up.
Amy was also demonstrating autistic symptoms – happy to play with the same favourite toys by herself for quite a time, not tolerating certain environments and getting very distressed at gatherings such as parties and with groups of people clapping their hands. This all became very distressing and we found that we were having to avoid certain social occasions, which increased our feelings of isolation. Other characteristics were the fact that Amy moved constantly and was getting stronger involuntary movements (if she was still, you knew that something was wrong); her hands and feet were tiny and just didn’t grow; she was always cold and was happiest when the weather was very warm (she loved it when we took her into a sauna or steam room!); a great love of the water and sometimes I even put her in the bath to stop her crying. She also had increased problems with constipation even though I worked hard to avoid it with her diet, use of standing frame etc.
I asked for another referral to the Genetics team at Oxford and were seen when Amy was about 10 years old. They had the original blood test taken when Amy was a baby so no further tests were needed. Progress had been made in genetic testing since Amy was first seen but we were told that testing for a possible syndrome would be a long and slow process, with no guarantee of a positive result. Tests were done on variants of both Rett and Angelman but all came back negative. We were then enrolled on a research programme called the DDD (Deciphering Developmental Disorders) but were warned not to hold out hope. We kept up to date every 6 months but the result was always negative.
In May 2012, we had a letter out of the blue from the Genetics Consultant at Oxford offering us an appointment, and I saw her that same month. I assumed that she had some news for us but didn’t dare hope that we would actually have a diagnosis. We were told that Amy had FOXG1 and that it was a congenital variant of Rett. We had been right all along! I truly believe that we would not have this diagnosis had we not pushed for one over the years. While it was great to have it, I then went through the grieving process once again. There was so little information available; what we did find seemed to be in written for Doctors, not parents, and knowing that there was no treatment was difficult, to say the least.
I soon began to research all I could about the condition. I was told about Professor Angus Clark, Medical Consultant for Rett UK, expert inRett and their variants and who happened to be based in Cardiff, my home town. My GP kindly referred me to see him and we met with Amy at the end of August. During our meeting, I explained my feelings of isolation, as we knew of no other Foxg1 children in the UK.Through Rett UK, I was put in touch with Ana Maria Payman, another Foxg1 mom. She told me about the Foxg1 Facebook Support Group- knowing that I am not alone anymore is fantastic!
Life has settled down and it has been amazing to be in touch with other FOXG1 families!
Hi, I’m Sian, and this is my story…
Our first daughter, Holly, was born after 8 years of infertility and IVF treatment. We had been told that we would need further IVF if we wanted to have any more children; so imagine our shock when we discovered I was pregnant naturally at the age of 40! Straight away there were concerns and I was told that there was a slight possibility that an extra chromosome (XXX Syndrome) was contained in the placenta and was not in the blood stream – but this could not be confirmed until they could test the umbilical cord at birth (Amy didn’t have this condition). At my 20 week scan, Holly joined me as my husband, Terry, was away on business. Nothing could prepare me for the shock of hearing the radiographer on the phone to Oxford saying he suspected brain damage. Regular scans had revealed a very small head indicating microcephaly and termination was offered on a regular basis – this I could not accept.
The day after Amy’s birth, she had a scan and the consultant told me to enjoy my baby – she was normal. Her 6 week check was also fine, but then things began to get difficult. Amy did breastfeed, but it seemed like she was feeding constantly. She also began to cry inconsolably most of the time, and rarely slept. We had many trips to the GP, who said she was suffering from colic but I wasn’t convinced. At 3.5 months old Amy was admitted into hospital, I stayed with her while Terry stayed at home to look after Holly. The next morning, during rounds, the consultant and her students came into our room. She examined Amy briefly and then told me in front of the students that Amy was severely brain damaged as well as having gastro-esophageal reflux. The consultant agreed to return later in the afternoon to speak to my husband and me.
I was stunned. My initial reaction was that somehow Amy was unclean and I couldn’t pick her up and cuddle her. I am glad to say that this was the only time I felt this way. While I waited for Terry to join me, I did several laps of the hospital with Amy crying my eyes out. When we saw the consultant, she said she would arrange an immediate MRI to confirm her diagnosis of microcephaly. Unbelievably, we had to wait about 6 weeks for the results which confirmed severe brain damage. When Amy was about 18 months, we were referred to the Genetics team at Oxford. After a couple of lengthy discussions in which a full history was discussed and photos taken, a blank was drawn and no syndrome identified.
Life, such as it was, continued. It wasn’t easy, and we had a huge learning curve ahead of us. Around the age of two, Amy was rushed into hospital with her first seizures. Over the next few years, these hospital dashes became the norm and the 999 switchboard came to know us! Holly had to come with me on occasion as Terry was away- she saw many things in the Accident & Emergency Department that a child of her age should never see. In these early years, Amy also had a convergent squint (cross-eyed) which was operated on successfully. As time went on, I continued to maintain hope that she would learn to sit up and couldn’t get around the fact that this might not happen. We had weekly physiotherapy, as well as hospital appointments for the eyes, with the dietician, orthotics, OT, speech and language etc – it seemed that most days involved an appointment relating to Amy.
Over the years, Amy developed certain symptoms – fascination with her hands, grinding her teeth, crying for no apparent reason. When she was about 5 years old she was tested for Rett Syndrome. After months of waiting the test came back negative – I wasn’t surprised as she didn’t have the initial normal development even though she had many of the characteristics.
Some of Amy’s characteristics became more pronounced over the years. For example, the fascination with her hands became a real problem – at every opportunity, she would thrust them deep into her mouth. Although she suffered with reflux, she never made herself sick doing this! We tried everything we could to prevent her from chewing her hands – splints, teething items, painting her nails with anti-nail biting liquid, all to no avail. We were then referred to a clinical psychologist who has been incredibly supportive over the years but nothing helped. Deep down, I had a nagging feeling that we might be trying to stop Amy doing things that were part of her genetic make-up.
Amy was also demonstrating autistic symptoms – happy to play with the same favourite toys by herself for quite a time, not tolerating certain environments and getting very distressed at gatherings such as parties and with groups of people clapping their hands. This all became very distressing and we found that we were having to avoid certain social occasions, which increased our feelings of isolation. Other characteristics were the fact that Amy moved constantly and was getting stronger involuntary movements (if she was still, you knew that something was wrong); her hands and feet were tiny and just didn’t grow; she was always cold and was happiest when the weather was very warm (she loved it when we took her into a sauna or steam room!); a great love of the water and sometimes I even put her in the bath to stop her crying. She also had increased problems with constipation even though I worked hard to avoid it with her diet, use of standing frame etc.
I asked for another referral to the Genetics team at Oxford and were seen when Amy was about 10 years old. They had the original blood test taken when Amy was a baby so no further tests were needed. Progress had been made in genetic testing since Amy was first seen but we were told that testing for a possible syndrome would be a long and slow process, with no guarantee of a positive result. Tests were done on variants of both Rett and Angelman but all came back negative. We were then enrolled on a research programme called the DDD (Deciphering Developmental Disorders) but were warned not to hold out hope. We kept up to date every 6 months but the result was always negative.
In May 2012, we had a letter out of the blue from the Genetics Consultant at Oxford offering us an appointment, and I saw her that same month. I assumed that she had some news for us but didn’t dare hope that we would actually have a diagnosis. We were told that Amy had FOXG1 and that it was a congenital variant of Rett. We had been right all along! I truly believe that we would not have this diagnosis had we not pushed for one over the years. While it was great to have it, I then went through the grieving process once again. There was so little information available; what we did find seemed to be in written for Doctors, not parents, and knowing that there was no treatment was difficult, to say the least.
I soon began to research all I could about the condition. I was told about Professor Angus Clark, Medical Consultant for Rett UK, expert inRett and their variants and who happened to be based in Cardiff, my home town. My GP kindly referred me to see him and we met with Amy at the end of August. During our meeting, I explained my feelings of isolation, as we knew of no other Foxg1 children in the UK.Through Rett UK, I was put in touch with Ana Maria Payman, another Foxg1 mom. She told me about the Foxg1 Facebook Support Group- knowing that I am not alone anymore is fantastic!
Life has settled down and it has been amazing to be in touch with other FOXG1 families!