Living with CASK: All the children are warriors. All the families are inspirational.
There are at least 23 children with CASK in the UK and just over two hundred in the world. Below are some personal stories from UK families. Click on their names to read more about their incredible stories
“Finally, one weekend, when Jorgi was 2 ½ years old, she started to crawl! Then a couple of days later she sat up by herself. Her progress is still slow but we have learnt it’s Jorgi’s way or no way, and it is very much on Jorgi’s terms.”
Bethany was born in February 2004, at about 10.50am. She was 11 days late and Lisa was just about to be induced when she started labour naturally. Apart from a bout of hyperemesis early on, the pregnancy was fine, and there was no suggestion of any problems with our baby. Bethany was in a hurry to get out, It was Lisa’s first labour and it was only a few hours long! Bethany weighed 5lb 11oz at birth, a bit small, but not abnormally so, and other initial measurements were all on the small side of normal. Lisa is quite petite so we thought nothing of it and went home.
In October 2004 we moved to Brandon, Suffolk, Lisa’s parents had retired from London to Brandon, and it was easy for me to get a transfer for work, so we moved, looking forward to our new lives away from the craziness of London. It was in November 2004, at Bethany’s 9 month check, that we were first alerted to the fact Bethany wasn’t doing what 9 month old babies should be doing. Her development is “delayed “, we were told. Our initial reaction was like “delayed???” trains are delayed, not our baby!! Many scans and tests, then ensued. Me and Lisa tried to reason in our own and each others heads what this meant. Even now, looking back, it’s hard to remember what we thought: denial was the first emotion. “Nope, she will be fine” “so she will walk a bit late, so what”. You have to understand, CASK wasn’t even a thing in 2004,we were in the dark. After denial came “why and how” and with no diagnosis it was made harder on us. We blamed ourselves, something we had done or not done, did we not feed her right? Was it her injections at 6 weeks old?
Everything and anything went through our heads. After many many tests, no closer to diagnosis, “microcephaly and severe development delay” was all the doctors could say for sure. Then to make things REALLY difficult, Lisa fell pregnant! I’m sure anyone who has experienced this particular situation has had the thought “ Do we want to risk bringing another baby into the world with the chance (very little chance we found out years later) of having severe disabilities. We decided to go for it and we came to the conclusion that “so what” if this 2nd baby is disabled. We would love and care for him/her regardless. As it happened George was born by c-section on 10th November 2005, 8 weeks early. The first 4 weeks of George’s life were in SCBU, and we live half an hours drive from the hospital….challenging times to say the least. George is now 16 and studying for GCSE’s. Aside from Covid playing havoc with his learning he is a normal moody teenager.
During the following 11 years, we came under the expertise of Dr Hemingway at Great Ormond Street, meeting a couple of times a year and local paediatric doctors more regularly.
We tried some conductive physiotherapy, but with another small baby to look after, it proved
impossible for Lisa to manage, and I couldn’t guarantee that I could get away from work to support. We both feel guilty to this day, that we didn’t try harder to help Bethany, Lisa feels that she could have done more, and I feel guilty for putting work before Bethany. Who knows, she may have been able to sit up or walk if we had persisted.
Every year we would go to GOSH and Dr Hemingway would tell us about this study and that
research, but no diagnosis…. until one day in March 2016, Bethany was now 12, we met at GOSH for what we thought was a routine catch up discussing medications etc. Dr Hemingway said “I think we found a diagnosis for Bethany”. Me and Lisa looked at each other in disbelief, the tears then came. 12 years of not knowing how, what , why or when, came to an abrupt end. “CASK gene mutation, it’s very rare, there are not many recorded cases in the world.” Dr Hemingway explained what she believed happened, it happened in utero, and it’s nothing we have done as parents (more tears) but it was a deletion of the CASK gene, causing ALL her problems. Needless to say that was a day we will never forget, the weight that fell from our shoulders that day. Lisa in particular blamed herself for Bethany’s problems. Sometimes Lisa would say that, but mostly she bottled it up,
Anyway, no sooner had we left the consultation room and headed to the GOSH restaurant, I was straight on my phone googling CASK gene mutation. Almost nothing came up in my search except links to facebook profiles: “cask gene mutation Alice” and “the melody maker” I messaged them straight away and meet ups followed.
I think if I can give parents any advice on getting a CASK diagnosis, it would be to find others in the same or similar situation; never give up, never take no for an answer from the health professionals, they are there to help, but don’t ignore you’re instincts. Lisa was amazing and chased our first local paediatrician for an EEG because of Bethany’s movements. He eventually relented and sleep epilepsy was discovered.
Me and Lisa also found great comfort in meeting other families – we weren’t alone anymore! And definitely the biggest positive from the diagnosis is that we really do consider two CASK family as friends, and many others we have met along the way. Our circle of friends is probably smaller than it was, but the friends are very special to us.
Bethany is now nearly 18, and sitting here typing this (welling up every so often) I am immensely proud of my girls. Lisa inspires me with how she won’t let anything stop her making sure Bethany has an active as possible life, seeing people, places and activities across the country and across the world. ( I say world when I mean Disney!)
Bethany is amazing, yes she still can’t sit up unaided, can’t toilet or feed herself, can’t walk or talk but trust me when you see the amount of her cerebellum is missing from her brain its utterly amazing what she can do. She communicates very clearly her feelings with her sounds, happy, sad or angry. She is great at grabbing and messing up her hair or rubbing her eyes with the back of her fingers. She loves music, lights and interacting with people Her smile literally lights up a room, it’s so genuine and heartfelt. She inspires me to keep smiling despite what life throws at you.
My deeply religious uncle in Dublin has dubbed her a saint, “ You’re very lucky David, you’ve got a saint for a daughter.” It always moves me when he says this, because he says it like it’s a matter of fact. This gives me some comfort since if there is a heaven, Bethany will have a VIP pass. I think clearly without going into too much detail the toughest thing to overcome is the realisation that me and Lisa will probably out live our darling girl. A day in the future that, whilst I’m dreading, I need to come to terms with. The Cask Research Foundation is great as it’s the natural next step to help find more treatments or even cures in the future. Cures might not be in time for our children, but who knows? The work needs to be done to help the children yet to be born with this condition.
Bethany was born in February 2004, at about 10.50am. She was 11 days late and Lisa was just about to be induced when she started labour naturally. Apart from a bout of hyperemesis early on, the pregnancy was fine, and there was no suggestion of any problems with our baby. Bethany was in a hurry to get out, It was Lisa’s first labour and it was only a few hours long! Bethany weighed 5lb 11oz at birth, a bit small, but not abnormally so, and other initial measurements were all on the small side of normal. Lisa is quite petite so we thought nothing of it and went home.
In October 2004 we moved to Brandon, Suffolk, Lisa’s parents had retired from London to Brandon, and it was easy for me to get a transfer for work, so we moved, looking forward to our new lives away from the craziness of London. It was in November 2004, at Bethany’s 9 month check, that we were first alerted to the fact Bethany wasn’t doing what 9 month old babies should be doing. Her development is “delayed “, we were told. Our initial reaction was like “delayed???” trains are delayed, not our baby!! Many scans and tests, then ensued. Me and Lisa tried to reason in our own and each others heads what this meant. Even now, looking back, it’s hard to remember what we thought: denial was the first emotion. “Nope, she will be fine” “so she will walk a bit late, so what”. You have to understand, CASK wasn’t even a thing in 2004,we were in the dark. After denial came “why and how” and with no diagnosis it was made harder on us. We blamed ourselves, something we had done or not done, did we not feed her right? Was it her injections at 6 weeks old?
Everything and anything went through our heads. After many many tests, no closer to diagnosis, “microcephaly and severe development delay” was all the doctors could say for sure. Then to make things REALLY difficult, Lisa fell pregnant! I’m sure anyone who has experienced this particular situation has had the thought “ Do we want to risk bringing another baby into the world with the chance (very little chance we found out years later) of having severe disabilities. We decided to go for it and we came to the conclusion that “so what” if this 2nd baby is disabled. We would love and care for him/her regardless. As it happened George was born by c-section on 10th November 2005, 8 weeks early. The first 4 weeks of George’s life were in SCBU, and we live half an hours drive from the hospital….challenging times to say the least. George is now 16 and studying for GCSE’s. Aside from Covid playing havoc with his learning he is a normal moody teenager.
During the following 11 years, we came under the expertise of Dr Hemingway at Great Ormond Street, meeting a couple of times a year and local paediatric doctors more regularly.
We tried some conductive physiotherapy, but with another small baby to look after, it proved
impossible for Lisa to manage, and I couldn’t guarantee that I could get away from work to support. We both feel guilty to this day, that we didn’t try harder to help Bethany, Lisa feels that she could have done more, and I feel guilty for putting work before Bethany. Who knows, she may have been able to sit up or walk if we had persisted.
Every year we would go to GOSH and Dr Hemingway would tell us about this study and that
research, but no diagnosis…. until one day in March 2016, Bethany was now 12, we met at GOSH for what we thought was a routine catch up discussing medications etc. Dr Hemingway said “I think we found a diagnosis for Bethany”. Me and Lisa looked at each other in disbelief, the tears then came. 12 years of not knowing how, what , why or when, came to an abrupt end. “CASK gene mutation, it’s very rare, there are not many recorded cases in the world.” Dr Hemingway explained what she believed happened, it happened in utero, and it’s nothing we have done as parents (more tears) but it was a deletion of the CASK gene, causing ALL her problems. Needless to say that was a day we will never forget, the weight that fell from our shoulders that day. Lisa in particular blamed herself for Bethany’s problems. Sometimes Lisa would say that, but mostly she bottled it up,
Anyway, no sooner had we left the consultation room and headed to the GOSH restaurant, I was straight on my phone googling CASK gene mutation. Almost nothing came up in my search except links to facebook profiles: “cask gene mutation Alice” and “the melody maker” I messaged them straight away and meet ups followed.
I think if I can give parents any advice on getting a CASK diagnosis, it would be to find others in the same or similar situation; never give up, never take no for an answer from the health professionals, they are there to help, but don’t ignore you’re instincts. Lisa was amazing and chased our first local paediatrician for an EEG because of Bethany’s movements. He eventually relented and sleep epilepsy was discovered.
Me and Lisa also found great comfort in meeting other families – we weren’t alone anymore! And definitely the biggest positive from the diagnosis is that we really do consider two CASK family as friends, and many others we have met along the way. Our circle of friends is probably smaller than it was, but the friends are very special to us.
Bethany is now nearly 18, and sitting here typing this (welling up every so often) I am immensely proud of my girls. Lisa inspires me with how she won’t let anything stop her making sure Bethany has an active as possible life, seeing people, places and activities across the country and across the world. ( I say world when I mean Disney!)
Bethany is amazing, yes she still can’t sit up unaided, can’t toilet or feed herself, can’t walk or talk but trust me when you see the amount of her cerebellum is missing from her brain its utterly amazing what she can do. She communicates very clearly her feelings with her sounds, happy, sad or angry. She is great at grabbing and messing up her hair or rubbing her eyes with the back of her fingers. She loves music, lights and interacting with people Her smile literally lights up a room, it’s so genuine and heartfelt. She inspires me to keep smiling despite what life throws at you.
My deeply religious uncle in Dublin has dubbed her a saint, “ You’re very lucky David, you’ve got a saint for a daughter.” It always moves me when he says this, because he says it like it’s a matter of fact. This gives me some comfort since if there is a heaven, Bethany will have a VIP pass. I think clearly without going into too much detail the toughest thing to overcome is the realisation that me and Lisa will probably out live our darling girl. A day in the future that, whilst I’m dreading, I need to come to terms with. The Cask Research Foundation is great as it’s the natural next step to help find more treatments or even cures in the future. Cures might not be in time for our children, but who knows? The work needs to be done to help the children yet to be born with this condition.
“As parents we made excuses for Bethany like ‘blocks are boring’ or ‘she doesn’t want to play with them’ I can’t remember exactly what happened in those days and weeks. A lot of upset, confusion, despair, bewilderment…. How could this happen to us? To our little angel?”
When Sarah was born I felt so blessed to have a healthy baby, albeit one with a crazy mop of dark hair! 6 weeks later at our doctors check we were told that her fontanelle couldnt be felt so we were referred to see a paediatrician at our local hospital. At the hospital they were concerned that Sarah’s soft spots had actually closed, and so they sent for a CT scan which they told us confirmed this diagnosis. We were given a leaflet and told to wait to hear from Great Ormond Street. That evening we received a call to say they had been wrong (one of several calls like this), and her fontanelle were not actually closed, but instead she had a small brain which was making her skull so small. She was diagnosed with microcephaly.
After a long wait to get an MRI, and then genetic testing, Sarah was diagnosed with PCH as a result of a deletion in her CASK gene. She was one year old. I quickly found the Facebook group ‘CASK gene support’ and spent many hours informing myself and reading the many positive stories on there. Without the group I would have been lost, since our geneticist couldn’t tell us much about the condition and all the published papers painted a very bleak picture. We have since found that having a CASK daughter is anything other than depressing. It is hard, certainly, but she can be so happy, she is so beautiful and has the best laugh that she makes it impossible to feel sorry for yourself for any length of time.
When Sarah was born I felt so blessed to have a healthy baby, albeit one with a crazy mop of dark hair! 6 weeks later at our doctors check we were told that her fontanelle couldnt be felt so we were referred to see a paediatrician at our local hospital. At the hospital they were concerned that Sarah’s soft spots had actually closed, and so they sent for a CT scan which they told us confirmed this diagnosis. We were given a leaflet and told to wait to hear from Great Ormond Street. That evening we received a call to say they had been wrong (one of several calls like this), and her fontanelle were not actually closed, but instead she had a small brain which was making her skull so small. She was diagnosed with microcephaly.
After a long wait to get an MRI, and then genetic testing, Sarah was diagnosed with PCH as a result of a deletion in her CASK gene. She was one year old. I quickly found the Facebook group ‘CASK gene support’ and spent many hours informing myself and reading the many positive stories on there. Without the group I would have been lost, since our geneticist couldn’t tell us much about the condition and all the published papers painted a very bleak picture. We have since found that having a CASK daughter is anything other than depressing. It is hard, certainly, but she can be so happy, she is so beautiful and has the best laugh that she makes it impossible to feel sorry for yourself for any length of time.
“The hardest things about living with CASK have been the seizures and the lack of sleep. Sarah started with seizures at 13 months old and had them nearly every day for nine months.”
Annie was 6 months old when she was diagnosed with ponto cerebellar hypoplasia and 16 months old when she was diagnosed with CASK mutation. Whilst I was pregnant we were under foetal medicine as Annie was “small for dates” and then IUGR. She was induced early at 36+3 week gestation and in neonatal care was noted to have a small head circumference and she failed her newborn hearing test. She was diagnosed with sensori neural hearing loss and wore hearing aids from 10 weeks age. Seizures started at 4 months old.
Annie is funny, determined, courageous and very sociable. She brings so much joy to our lives. She is able to sit, crawl and is starting to take a few independent steps. She is able to communicate by smiling, laughing, wriggling, shouting, crying and sometimes offering us simple objects (the TV remote is a perennial favourite!). On a good vision day she can sometimes make simple choices.
The early years were really difficult, finding more and more things “wrong” with our little girl and realising our future was going to be very different from what we had planned. Each year the list of consultants involved in her care grows (currently 7!) and we are always sleep deprived!!
When Annie was diagnosed the only information we received was a newspaper link to a story about another girl in the UK with CASK mutation. A facebook CASK group has been a great way of sharing information with other families but actually to have a research foundation may enable new therapies and treatments in the future to improve our children’s quality of life. Having a child with CASK isn’t all bad. Being linked with other families who have children with additional needs has been good and we now have a very different perspective on life, finding joy in the small things.
Finding the right educational setting has been essential for us. Annie is deaf/blind (multisensory impaired) and attends a specialist MSI Unit where she receives one to one support at all times with skilled, caring teachers and TAs who know her completely.
My advice for parents who have recently received a diagnosis is try to learn to accept your child for who they are, and to help them be all that they can be rather than what you’d dreamed of them being. This was one of the hardest lessons for us, but once we’d reached that point we were able to help Annie enjoy life so much more. Finding the right professionals / charities to enable them to live their best life possible and give you the chance to have some time with your other children. We have received brilliant support and advice from the charity SENSE and our local children’s hospice / respite unit.
Annie was 6 months old when she was diagnosed with ponto cerebellar hypoplasia and 16 months old when she was diagnosed with CASK mutation. Whilst I was pregnant we were under foetal medicine as Annie was “small for dates” and then IUGR. She was induced early at 36+3 week gestation and in neonatal care was noted to have a small head circumference and she failed her newborn hearing test. She was diagnosed with sensori neural hearing loss and wore hearing aids from 10 weeks age. Seizures started at 4 months old.
Annie is funny, determined, courageous and very sociable. She brings so much joy to our lives. She is able to sit, crawl and is starting to take a few independent steps. She is able to communicate by smiling, laughing, wriggling, shouting, crying and sometimes offering us simple objects (the TV remote is a perennial favourite!). On a good vision day she can sometimes make simple choices.
The early years were really difficult, finding more and more things “wrong” with our little girl and realising our future was going to be very different from what we had planned. Each year the list of consultants involved in her care grows (currently 7!) and we are always sleep deprived!!
When Annie was diagnosed the only information we received was a newspaper link to a story about another girl in the UK with CASK mutation. A facebook CASK group has been a great way of sharing information with other families but actually to have a research foundation may enable new therapies and treatments in the future to improve our children’s quality of life. Having a child with CASK isn’t all bad. Being linked with other families who have children with additional needs has been good and we now have a very different perspective on life, finding joy in the small things.
Finding the right educational setting has been essential for us. Annie is deaf/blind (multisensory impaired) and attends a specialist MSI Unit where she receives one to one support at all times with skilled, caring teachers and TAs who know her completely.
My advice for parents who have recently received a diagnosis is try to learn to accept your child for who they are, and to help them be all that they can be rather than what you’d dreamed of them being. This was one of the hardest lessons for us, but once we’d reached that point we were able to help Annie enjoy life so much more. Finding the right professionals / charities to enable them to live their best life possible and give you the chance to have some time with your other children. We have received brilliant support and advice from the charity SENSE and our local children’s hospice / respite unit.
“The early years were really difficult, finding more and more things “wrong” with our little girl and realising our future was going to be very different from what we had planned. Each year the list of consultants involved in her care grows (currently 7!) and we are always sleep deprived!”
Charlotte Edward is now aged 22 and wasn’t diagnosed until she was 10. The first signs of something being wrong was at her 8 month check, but looking back, she didn’t grab anything aged 6 months. Charlotte is happy, smiley and loves everyone. She can walk with support, drink unaided from a lidded beaker, can sit unsupported, she’s learning to feed herself and she’s also learning to use switches to communicate. We have found Portage and Conductive education to be the most important interventions Charlotte has had. The biggest obstacle has been the fighting to get respite care and appropriate education. My advice to families starting this journey is to follow up every suggestion – you never know what it leads to. Charlotte’s younger sister is very caring and is now training to be a doctor – attributes which may not have been nurtured if she didn’t have Charlotte in her life.
Charlotte Edward is now aged 22 and wasn’t diagnosed until she was 10. The first signs of something being wrong was at her 8 month check, but looking back, she didn’t grab anything aged 6 months. Charlotte is happy, smiley and loves everyone. She can walk with support, drink unaided from a lidded beaker, can sit unsupported, she’s learning to feed herself and she’s also learning to use switches to communicate. We have found Portage and Conductive education to be the most important interventions Charlotte has had. The biggest obstacle has been the fighting to get respite care and appropriate education. My advice to families starting this journey is to follow up every suggestion – you never know what it leads to. Charlotte’s younger sister is very caring and is now training to be a doctor – attributes which may not have been nurtured if she didn’t have Charlotte in her life.
“The biggest obstacle has been the fighting to get respite care and appropriate education. My advice to families starting this journey is to follow up every suggestion – you never know what it leads to.”
