My Story

My name is Sophie, I was born 26th June 1999 in The University Hospital of Wales. I live with my mummy Jane, daddy David and my two brothers, Thomas 5 years and Matthew 10 months.

Each day I travel by bus to Ty Gwyn School in Cardiff which I really enjoy. Everyone there is wonderful and I know my mummy loves my school. I also visit Ty Hafan Children’s Hospice about four times a year to give my mummy and daddy a little break. I love it there because they have a sensory room, hydro pool and I get constantly pampered all day long.

I have recently been given a diagnosis, I have an alteration in one of my genes called CDKL5. This gene helps brain development and is a rare genetic disorder.

My mummy is going to tell you all about me. Mummy says she has made some lovely friends, which she would never have met if it wasn't for me...

I hope you enjoy reading my story.

Thank you for visiting.

Pregnancy and birth

Sophie was born 26th June 1999, it was the happiest day of my life. My pregnancy was normal. The birth was horrendous, in labour for three days and then ended up having a C Section. Sophie did not need any special care, and we came home with our little bundle of joy, and enjoyed a blissful 15 weeks. I took to motherhood with great enthusiasm. These were the happiest of my life.Sophie in those early weeks was a wonderful baby, she fed well and slept well, all was bliss. I can honestly say I had no concerns whatsoever.

The Beginning.

The day she had her first seizure changed me completely. I can honestly say I’m a different person now. Sophie was around 15 weeks.

The fear grips you inside, it was the first time I had seen anyone have a seizure and here I was watching my daughter go through it. We were in the car, she was in her car seat asleep. I was screaming at my husband and we drove straight to the hospital.

We arrived, and when we were called in to see the doctor she started fitting again in my arms. Needless to say we were admitted straight away, and we made that hospital our home for the next 4 months.

Over the following days she did not stop fitting and on one particular day over 50 seizures were recorded. She went through so many tests and was referred to the genetics, professor Angus Clarke who said that 'the hospital had left no stone unturned'.

Every test came back as 'normal' so because of this (and being young and naïve), I just assumed they would get her medication sorted and we would get home and enjoy things again. Little did I know the seizures would still be dominating our lives 9 years on.

We have had a lot of fearful days, but the one that sticks out is New Years day the millennium year. We had finally come home for Christmas, things were not great, but we were home. Sophie ended up in a constant fit. We went straight back to hospital and were admitted to high dependency where they just drugged her into oblivion, she did not wake up for four days.
By this time I was an emotional wreck I must have aged about 10 years in those four months.

Life was a struggle and I wasn’t coping well.

When she did wake up she did not have another seizure for 2 years...........

Development

I can’t really remember a specific time, no one said to me she won’t ever walk or talk, I just kept saying to myself it’s the seizures slowing her down. If they could just control her seizures to give her brain and body a rest, everything would be ok.

I suppose reality sunk in when she started school, a 'special school'.

In the time she was seizure free she learnt to sit up and hold her own bottle, which made life so much easier. But never any major milestones were reached.

No explanations can be given for her seizure free episodes, or why they restarted. Her drugs were not altered around this time. Her consultant described this period like a massive thunder storm, the air clears for a while after.

Sophie has changed/progressed over the years, but I think everything has been governed by the seizures. When seizure free, she is much happier and brighter. Also the drugs have played a major part. Her sleeping pattern has altered on certain drugs and with that, her mood.

At present Sophie uses a wheelchair and is tube fed. She will roll around on the floor and can get from lying down to sitting. When she’s sitting she will just fall, so uses a padded helmet if out of her chair. She communicates by laughing, smiling, crying and screaming. I usually know when something is wrong and what it is she needs. I don’t know how, probably from years of practise or maybe mothers intuition.

She will look and jump to a loud noise and will follow me across the room although she can’t be bothered to track an object. That’s just too boring for her.

When playing with her, most of the time she will look to you with her 'dirty look' as if to say leave me alone. How much we get out of her whilst playing is totally on her terms and whether she can be bothered.

Diagnosis

We have been under the genetics in Cardiff since Sophie was 2 years, we were aware her blood and DNA were stored there for research /further investigation.

When we first visited Prof Clarke he tested for Angelmans and Retts. The hospital had already done every other test, so I was convinced back then after doing some research that she had Angelmans. Two of the symptoms listed for Angelmans was: always smiling and laughing for no reason and widely spaced teeth. Both traits Sophie had and I therefore convinced myself she had this.

When he called us back last November 2008, five years later, I was 8 months pregnant, and the diagnosis of CDKL5 came as a complete shock. They offered us an amnio, but I was 8 months and couldn’t see the point. When Matthew was born I didn’t want to be the way I was with my five year old son, constantly waiting for a seizure. So we decided to take blood from the umbilical cord for tests which thankfully came back negative. So both boys have no problems.

Even though the news came as a shock, I think this was more so because I was pregnant, the word genetic, mutation was frightening. It didn’t have a major impact on our lives, because by this time Sophie being 8 years old was Sophie. I already knew how her life was going to be.

However, I think it would have been different if we had this information much earlier on. I suppose now it’s just easier to explain to people what's wrong rather than saying they can’t find anything, filling out forms is easier.

I love Sophie and have accepted her condition, even though every day I say to her “it’s not fair...”

Sophie’s personality traits

She used to grind her teeth (she does not do this anymore)

Widely spaced teeth

Thick lips (I keep telling her celebrities pay thousands to have lips like hers)

Her eyes and nose I would say are like her brothers. My three children’s baby photos all look like the same baby.

She always has her finger in her mouth

Always sits crossed legged (like we used to at story time in nursery)

She used to laugh out for no reason, but now it takes a lot to get her to giggle, her dad is best at getting her to do this.

She loves having her hands played with and will push them towards you so you have to play with them.

When having one of her many seizures she always puts her head to the right side it looks like a sideways glance, but is in fact seizure activity. She does look at you out of the corner of her eye. We call this her 'dirty look'.

She can be vocal at certain times and when she does decide to ' Sophie talk', can be very loud.

Always sleeps in the same position with her hand not in her mouth but touching her lips and nose.

There are photo’s to show Sophie sitting in her favourite sleeping position and her 'dirty look' on this blog.

Medication

Sophie has been on a vast amount of different medication, trying to remember them all over the past 9 years I’m not even going to try. At present:

VNS this was fitted in July 2006
Eplilm
Clobazam
Buccal midazolam is used if seizures are not self resolving

Seizure activity at present around 3-4 mild and at least 3 large violent ones that can last up to 10 mins, within 24 hrs.

Illness/chicken pox

This seems to be worth mentioning.

We noticed every time Sophie is ill her seizures are better in fact none at all, before Sophie had her gastrostomy fitted, trying to get her to eat anything when she was ill was an absolute nightmare hence so many hospital admissions. Even a slight cold would end up being a massive deal in the end. Since being tube fed things have been a lot more manageable at home. Even when she is ill I can still feed her and give her meds without her having a complete strop. We used to think it was antibiotics that helped her seizures but ruled that one out.

Chicken Pox, New Year Eve 2006, I noticed the first spots; her brother had only just recovered so I knew what they were by the fourth day we were in hospital things were bad.
Up till this point she was fed both orally and through the tube she enjoyed her food when she was alert and bright but if a seizure had knocked her out it meant no meals were being missed.
When the chicken pox took hold she was ill for over three weeks, she was only being fed through the tube, and no seizures happened. That’s when I convinced myself it had something to do with food. Therefore I took it upon myself to stop feeding her orally. Even when she recovered from the pox.

I discussed this with her consultant and we found out there is such a thing as eating/feeding epilepsy.

Sophie remained fit free for over 3 months. Unfortunately they returned with a vengeance.

Vomiting

Sophie has never had a problem with vomiting unless she was ill, but the last 6mths we have had a lot of sickness for no apparent reason. I do not know much about this as it was never an issue, but in the process of discussing and trying things with her neurologist, nurses at school and dietician, we have changed her from paedisure plus to nutinini pepti. To date this has made no difference.
This has been worse than the seizures as she panics and has choked; it really worries me I’m afraid now to leave her for a second. More investigating and talking needs to take place on this.

CDKL5 what it means

CDKL5 is a gene that is found on one of our sex chromosomes called the X chromosome. The letters are an abbreviation of the scientific name of the gene which describes what it does. The long-winded name is cyclin-dependent kinase-like 5. The CDKL5 gene was previously called STK9 and sometimes people think that the two genes might be different but they are in fact the same.
The CDKL5 gene provides instructions for making a protein that is essential for normal brain development. Although little is known about the protein's function, it may play a role in regulating the activity of other genes. The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding a cluster of oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not determined which proteins are targeted by the CDKL5 protein.

At present (September 2008) there are approx only 50 people worldwide with this diagnosis.

Thanks

Ty Gwyn Special School Cardiff

All her wonderful teachers and teaching assistants your work is amazing
The nurses, I do not know what I would do without you all. Just knowing I can ring you at any time.
Physio again thank you for being so lovely to us.

TY HAFAN Children’s Hospice

Thanks to all the staff especially Kelly and Livet we love you.

University Hospital of Wales

All the nurses in paediatrics and outpatients again wonderful work.
Her consultant Dr. Johann te Water Naude. Thank You
Sian Cartwright Epilepsy nurse.

MISC

Receptionists at Dr Bentley and Davies surgery, for helping me when I’m in a panic when I’ve run out of meds.
Rita Lewis, Sophie’s Health worker.

And last but certainly not least all our family and friends you know who you all are.