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.