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25 Sep
  • By Heike
  • Cause in

Finding a diagnosis of CDKL5 – A Dad’s Perspective

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I am a Dad with a wife and three children, a mortgage and bills to pay. I have a fairly good job and a reasonable standard of living, the kids are provided for and we are able to go on family holidays. All sounds fairly normal so far, which is the way I thought my life was heading before CDLKL5 entered my world…

In 2008 I already had two children, a daughter (Karina) who at the time was aged five and a boy (Joshua) aged two. The birth of our third child felt quite routine at the time, it was an early morning planned caesarean, been there before, so no great worries and the birth went very smoothly. Our latest addition to the family “Bethany Rose Wilson” entered the world and instead of just bringing a new chapter to our lives, she brought her own new crazy rule book on how we were going to live our lives from now on.

It didn’t take too long to realise something was not right, having two previous children and a couple of nephews, we were experienced parents of young children. The first sign for me was still in the hospital a day or so after she was born, I was watching her in the crib and she started shivering very slightly. “Must be cold” I thought and put a blanket over her. Once Bethany was at home I saw a re-occurrence of the “shivering” and I started to note that she would go to sleep straight after “shivering” and not even drink her bottle of milk, she was also crying a lot for no reason.

After a few weeks, Bethany appeared to be sleeping pretty much most of the time, and I still saw the shivering. I probably did not take it seriously enough at the time, we were all trying to manage with two other children and a new baby. Soon though we took her to the Doctors. “Don’t worry” they said, babies do all kinds of funny things “Go home” they said. Eventually after giving up on the GPs we took ourselves to A&E and waited to get admitted, once on the children’s ward we got the same advice from multiple consultants. “You are anxious parents” they said “Babies make funny movements” they said. Then on another visit to the children’s ward finally Beth at 6 weeks old obliged and helped us out in getting the Doctors attention and had a fit in front of the consultant while she was talking to us. I remember the shocked look on her face as she saw a baby of a few weeks old having a fit. “She’s doing it, what is it?” I asked “It’s a Seizure” the consultant said.

I remember being worried sick, immediately I was off work, but back then those days we thought at worst Beth had epilepsy, and that we would get control of it and she would still have a fairly normal life. What we did not know was that our journey to discovering the diagnosis of CDKL5 had only just begun……..

It was a long and difficult journey, as I am sure other parents with CDKL5 will tell you. In our case we drove forward pursuing every option, none of the anti-epileptic drugs were working, we were getting desperate, we did all sorts of things, going privately to a consultant in Great Ormond Street, MRI scans, having Beth monitored overnight with a ECG and being videoed. None of this in the end told us what the problem was.

In the end I remember after a weekend of seizures I took Bethany on my own to the local hospital (it was my turn) and Bethany was admitted to the children’s ward, I was there for a good 5 hours (missing the football). After 5 hours, two consultants eventually nodded to each other and told me they didn’t believe they should change anything on her medication. I had been there for nothing, and decided there and then that we would not bring her back there again.

I remember being so worried at this stage, the family days and nights were consumed by Bethany. She had seizures, she cried a lot, we were both very stressed. I was convinced at this stage that it was more than just seizures. Bethany was not looking at us directly, sometimes she would laugh ( a somewhat unusual laugh ) for no reason. She also did strange movements with her hands. As my brother is autistic, I had grown up and been around special needs children, I was particularly convinced mainly due to Beth’s strange hand movements that she had special needs. I remember telling my wife that I did not think Bethany was quite right. She disagreed at the time, what else she could do?  she was the positive one clinging onto hope, and holding the family together.

Strangely, through a family connection, a top paediatric neurologist in Italy agreed to see Bethany at a specialist hospital on a dedicated ward for children with neurological disorders. The original plan was for my wife to take Beth out for a week with her mother, where the hospital would examine her. I actually took a week off work and spent the time with my other two children. I was having a nice time, it felt surprisingly normal for a change. On about the third day of my week’s holiday I was driving to my step mothers with the older two children in the car. The mobile phone went off, it was my wife. I pulled over immediately. “Where are you” she said. “In the car” I replied. “I need to tell you something” she said. And then she proceeded to tell me that Bethany was in encephalopathy, a severe seizure state (basically her brain had changed to storm state) and she had to be injected with steroids every day to try and clear her brain, the consultants had advised she was in a bad way.

So after that we all moved to Italy (as you do). We made the decision that the whole family would move there temporarily while Beth got her treatment. Minor problem here was I still needed to earn a living. I told my work, I need time off, or I needed to quit. I was fortunate, I was working for a global company who had offices in Italy. My bosses organised for me work from there. I have left the company now, but I have never forgotten that favour from my boss, even writing him a letter when I left a few years later, thanking him for his kindness.

So after that we all moved to Italy (as you do). We made the decision that the whole family would move there temporarily while Beth got her treatment. Minor problem here was I still needed to earn a living. I told my work, I need time off, or I needed to quit. I was fortunate, I was working for a global company who had offices in Italy. My bosses organised for me work from there. I have left the company now, but I have never forgotten that favour from my boss, even writing him a letter when I left a few years later, thanking him for his kindness.

Eventually she came back to us, the steroids finally worked. Beth had been allowed out of hospital by then, and one morning she was in her cot next to our bed. I watched and saw her lift her head up and look around with purpose, and she saw me and made some of her noises. We had got her back.

Next, the really bad news came. The consultants in Italy knew what they were doing, and I believe they had suspected CDKL5 from an early stage. They had sent off tests and the results had come back. We sat numbly in an office in Italy while they explained about building blocks and protein, mutation etc. By the end I could not tell you any details of that meeting….. I just knew my daughter would not be normal and would require care her entire life.

We came back to the UK, just in time for an NHS follow-up appointment regarding Bethany. We gave the consultant all the information/results from Italy and advised her that Bethany had CDKL5. A blank look followed from the consultant. I guess I cannot hold that one against her. A minor argument then followed, my wife was very emotional, demanding why the NHS could not have done better. The consultant started to pull out information on complaints procedures, and appeared to me to have already started to cover her back. It’s easy to bash the NHS, and I could look back now, and yes they were pretty poor in the care and prioritisation they gave Beth, but all said and done they were simply out of their depth. Someone once asked why we didn’t sue the NHS, I replied “for what purpose, more money, what’s that going to solve?” There were much more important things to focus on and we needed our energy for that.

So how’s life now in 2016 as a Dad with a 7 year old daughter with CDKL5. We have our ups and downs and sometimes you just have to laugh, I got caught in a Costa on remembrance Sunday at 11am, did Beth observe the 1 minute silence?  No! Is Beth all calm and quite when we are out in public having dinner? No! Will she be calm on the plane while we go on holiday? No! But you learn to live with it and have to smile.

We have things reasonably well sorted out now, we have weekly care organised, my wife and I are both able to work, our older two kids are happy and amazing with Beth. My wife gets all the praise, people tell her how amazing she is and how much they admire the way she copes. No one comments on me. But I suppose that’s the role of the Dad.  In fairness, my wife does most of the medical appointments, and care. But I do help as much as possible, when I am not working. To use a football analogy, I compare myself to a holding midfielder in a football team, not too glamorous and don’t really get noticed, but happy to do my role for the team, while my wife is the star striker in the family.

I am amazed by the support my wife gets from the CDKL5 support groups, the mothers are well organised and have weekends away. One day the Fathers might get themselves organised, who knows – although in reality we’ll probably have to wait for one of the wives to organise it for us.

My main objective in life now is trying to keep myself and the family happy, I encouraged my wife to back to work so she was not living CDKL5 every day, and that was definitely the right decision. As a family we sometimes go away with Beth and sometimes without her, which helps us focus on our time with the other two children who also need us. Beth has taught me a lot over the years. I have learnt that work and focusing on a career is not as important as it was, she has taught me how important family time is, and that the little trivial things are just not important in life. Not to mention that having an occasional beer can really help you get you through a CDKL5 day.

 

Gavin Dad to Bethany, Karina and Joshua

Heike