Living with Ellie and CDKL5.....

On this page, we are going to discuss some of our own experiences of living with Ellie for 13 years before her diagnosis was established, and the issues we now face as she gets older.  We also hope that other families, who may find themselves in a similar position to us, come to realise that not only IS there a life with an "Ellie"........ but it can also be fun !!!!

I have, in places, referred to a review article or a particular published study, a more detailed discussion of which, you will find on the research page.  If you want to make a comment, disagree with anything I have said or anything else !!  - then please contact me.


An early diagnosis

An early diagnosis requires an awareness that there actually is a condition called CDKL5. Because CDKL5 was not known about until 2004, we believe that there are still many health professionals who come into contact with children with CDKL5  who do not know about  the condition  (we have recent personal experience of this). The wider education of health professionals has traditionally occurred through journals or scientific meetings. However, the internet and the advent of  social media and networks has changed that considerably  so that it is now relatively easy for anyone and everyone to spread the word about many rare conditions (see this), including CDKL5, in a far more effective way - even to the medical profession and in particular, to future GP's and neurologists. Relatively new resources are appearing - see  SWAN.  It would therefore be nice to think that (nearly) every child born with CDKL5 will have their diagnosis established early, and whilst we would advocate testing for CDKL5 in all children presenting with early onset epilepsy, it needs to be remembered that there are many other causes  that also need to be excluded. Nevertheless there will be children whose diagnosis will be missed because it is not being thought of....


Seizure Control

One reason why establishing a diagnosis is important, is in relation to seizure control. Improve seizure control and you might improve the potential for development by minimising brain damage. Ellie had undergone electroencephalography (EEG) fairly soon after her first seizure. However, this had proved inconclusive, and in the absence of a diagnosis, Ellie was treated with phenobarbitone. Said to be a "safe" drug, she was put on quite high doses as her seizures became frequent and difficult to control. When we first arrived in Australia, the paediatricians there were quite alarmed when blood tests showed how high her phenobarbitone levels were. Unfortunately in reducing the dose her seizures just worsened. In those early days, the majority of her seizures were related to sleep, either when she was just going off to sleep or when waking up.

At about the age of 1 she had a further EEG that suggested the presence of a hypsarrythmia. Based on this finding, she was started on vigabatrin and her major seizures disappeared almost overnight. We now know that in CDKL5, seizures can be quite resistant to treatment and in a recent small study, topiramate, vigabatrin and the ketogenic diet were the most beneficial at reducing seizure frequency. For the record,  Ellie has been treated with phenobarbitone, vigabatrin, lamotrigine, ethosuxemide, carbamazepine, sodium valproate, clobazam, clonazepam, levetiracetam, prednisolone, intravenous immunoglobulins and the ketogenic diet - phew !! She was not deemed suitable for vagal nerve stimulation (VNS) and is now on topiramate.  VNS is a treatment that has traditionally been reserved (licensed) for children aged over 12 years with resistant epilepsy. There is now some evidence that it may be equally effective and safe in children under 12 years of age. Ellie has not had any further major convulsions, as far as we know,  for a while although she does still get absences, occasional myoclonic jerks and what we call drop attacks, all of which we think probably represent a form of complex partial seizure activity.

 Cortical Visual Impairment

Cortical Visual Impairment (CVI) is a recognised problem in children with CDKL5, and a very nice review of the related issues has been written in part, by parents of affected children. Early diagnosis is important as early intervention has been shown to improve a child's visual responses. We were fortunate that the paediatrician who initially saw Ellie (aged 5 weeks), recognised that she had visual problems, because when examined, she didn't respond to, or follow a light source (a pen torch). Consequently, armed with this information we were able to organise therapy for Ellie in Australia.  Interestingly, we do have an earlier home video of Ellie, where she does appear to be following Teresa moving around her, which suggests some deterioraton in Ellie's vision may have occurred during her first 5 weeks of life. There is also a slight "conflict" here between CVI and seizure control in that there have been reports suggesting vigabatrin may cause impairment of peripheral vision. Ellie had been started on vigabatrin while we were in Australia, but because of these reports and her apparent visual impairment, this was stopped soon after we returned to the UK. An interesting point here is that Ellie now appears to use her peripheral vision a great deal. She rarely makes eye contact and if she is trying to pick something up (for instance when reaching for a biscuit) she tends to look to one side of the object rather than straight at it. 

Gastro-oesophageal reflux disease

Gastro-oesophageal reflux disease or GORD - called GERD in the North American literature, is a problem that we have also encountered. Our concern here is that we now believe that Ellie had been suffering with pain for quite some time before we realised. The problem, as pointed out in a good review on the subject, is that children with neurodevelopmental delay do not have the ability to communicate pain, never mind communicate the site of pain accurately. Most children will develop recurrent vomiting although Ellie tended to have more of an effortless reflux after food. However, we now believe that the many episodes of crying and screaming we saw were due to the pain associated with GORD - if you've ever had heartburn or indigestion you'll have some idea of how painful this can be.  GORD is not necessarily an easy condition to treat in any child with neurodevelopmental problems but parents and carers need to be particularly vigilant for this as we can't imagine anything worse than a child in severe pain and not being able to say so. Once treated (Ellie ended up having a Nissen's Fundoplication) these episodes were much less frequent. She still has some problems with her eating and reflux but pain does not now seem to be an issue 



While we are talking about the yucky stuff, we can move on to constipation. Again, the review article mentioned above covers this well. Constipation is defined as opening of bowels less frequently than 3 times per week or the regular need for laxatives. It is a common problem in children with disabilities and can go unrecognised for years. Ellie's constipation is something we still struggle with from time to time, as it is not uncommon for Ellie to go several days without opening her bowels. It  is relatively easy to keep an eye on things when Ellie is at home, but when she is at school or in respite care it is also just as easy to lose touch with what has been happening. We now try and keep a regular record with her school. When Ellie does go, a term we have heard used which would be very appropriate is "elephant poohs"  and while we used to be baffled as to exactly where she had been storing it all, a potential complication of unrecognised constipation is in fact something called a megarectum - a condition that might very occasionally end up requiring surgery. It is obviously important, therefore, that mums, dads and carers keep an eye on their child's bowel habit. 

 The Nappy Tower




This takes us nicely into the world of the nappy! One of the "perks ?" of having a child with special needs is that we are supplied with free nappies. Anything from 3 to 6 nappies a day x 7 x 52 equals a lot of nappies a year! Ellie outgrew size 6 pampers babydry several years ago, and here begins the problem. As any mum will tell you, nappies for babies are nice and soft, and are designed with the comfort of baby's skin in mind. Once your child gets bigger, nappy producers seem to lose interest in the comfort bit. There are only certain types of individuals who will need to continue in nappies after the toddler phase of their life, and children with special needs form a significant part of this group. The nappies we have been supplied with are basically ill-fitting, plastic covered wads of tissue, despite what it says on the packaging. Having contacted the manufacturers, they claim that this is the best that they can produce . Pampers and Huggies it seems  "only deal with babies and toddlers". That is, nice little babies have nice little bottoms that deserve nice comfy nappies, and stuff anyone else!


Normal sleep patterns are generally driven by our own "internal body clock"  (the so called circadian rhythm). Many individuals suffer what are termed circadian rhythm sleep disorders (CRSD) and these seem to be  more common in children with multiple disabilities. There are also non-circadian sleep disorders, which again are (guess what!) frequently seen in children with multiple disabilities. Pain is a common cause (due to GORD,  for instance) but not the only cause. Over the years what has been apparent is that Ellie has had a very  haphazard sleep pattern. We have attributed this at various times to epilepsy, night terrors, pain or to Ellie just being  bouncy...bouncy...awake!  There are times when she will sleep continuously for more than 12 hours, and other times when she can be awake all night. She can be quite grumpy during times when she is sleeping a lot, and be particularly happy and bouncy during phases where she is not sleeping much at all. One particular review has pointed out how most children with multiple disabilities will have long-standing problems with sleep yet the management of this can often be neglected. Again this comes down to education of the health professional, and again we unfortunately have personal experience of this. Teresa once went to see one of our own GP's about the numerous nights we were having where Ellie was awake and often distressed. The advice Teresa was given was simply ...  "leave her to scream and she'll soon learn to go to sleep...". ..needless to say Teresa hasn't been back to see that GP again. A number of reviews would suggest that there is a poor understanding amongst the medical profession generally, about sleep disorders experienced by children with special needs, and the related problems faced by their families. After all, if your child is awake all night screaming and shouting, then the chances are everybody else in the family is awake too, and the cumulative effect of sleep deprivation affects everyone. This is a problem where parents and carers may need to adopt a fairly tough approach when visiting their own family doctor. The use of melatonin may help and although it is said to be more effective than hypnotic drugs (sleeping tablets)  there is some disagreement in the scientific literature. We have tried melatonin with some, but not persisting success, and more recently lorazepam but... the cycle of disrupted sleep continues.


Respite Care

We believe that respite care is something that every family with a special needs child needs. It doesn't matter how much you love your child (and we all do) the demands and strains that a special needs child puts on the family are enormous, particularly if there are other siblings. Although we have tried to live a normal family life with Ellie, she needs care for 24 hours a day, and that has always put some limitation on what we can do. We also have Hannah, who over the years has also needed our time and attention, and respite care has been invaluable in allowing us to spend  time doing  "normal things"  with Hannah in a way we can't always do with Ellie. Ellie started going to Rainbows when she was 5, and perhaps like many mums, Teresa felt quite guilty about this because she felt it implied that she couldn't cope with Ellie and was, in some way, inadequate as a mother. Ellie now goes several times a year, and Teresa has come to realises how important respite care is for her own sanity!!! We now also get a respite carer from social services for 5 hours a week. This has proved invaluable, particular when Hannah was younger and attended lots of after-school activities.


The cost of disability products

I don't want to sound too cynical (or facetious) but are the disabled, and their families and carers being taken for a ride?  Take any product, like a toy or a chair, label it as being "suitable" or "designed" for the person with a disability and the price seems to double or treble. In our search for wheelchairs, shower chairs, suitable clothes (vests, large baby grows) the costs have always seemed disproportionately high.  We are obviously not the first to have noticed this and if you want to see some sort of direct cost comparison  then you might be interested in reading this.....thanks.


Ellie in the water 

When she is in a good mood, Ellie loves being in water, whether she is in a swimming pool or just when having a bath. Ellie's school had a swimming pool which she goes in every week. Like most, if not all children, she obviously prefers warmer water. Ellie will stand for a short period of time but really seems to enjoy the freedom of  just floating around. Although it is a little difficult to find any specific research about this, there are clearly many advocates for the value of water therapy in children with special needs.  Ellie has enjoyed playing in water for many years, as these photos show -  in France in 2005 and then with Teresa at CentreParcs  in 2006 and 2008, when she was able to stand unsupported (Ellie, I mean), and again in France in 2010 just chilling out (yes she can float too!).




Ellie loves music, The role of music therapy for children with special needs is well recognised. When she is in a good mood, Ellie's natural bouncy state lends itself to movements that could easily be related to the very origins of the modern dance movement. Unfortunatley, Ellie doesn't always stop when the music stops, hence the need for re-inforced chairs, beds and anything else that bouncy Ellie might come into contact with (she has already demolished 2 wheelchairs). Ellie has music therapy both in school and also at Vista, which is a charity based in Leicester dedicated to improving the lives of people in Leicestershire with sight loss.



Reading a blog tweeted by @momsofmiracles made me realise how lucky we have been with Ellie's dental care. There are a number of issues. Firstly, Ellie grinds her teeth (a characteristic of children with CDKL5), secondly, she loves fruit juices and their acidity is known to harm the enamel of teeth. Thirdly, as you might imagine, Ellie has understandably not been that keen on people poking their fingers into her mouth. There are many dentists lucky to still have all their fingers. We have been fairly dedicated in brushing her teeth on a regular basis, and so far we have been fortunate in that Ellie has not needed any major dental treatment (unlike her dad - check out apicoectomy - it still hurts just to think about it! ). Over the years Ellie has become used to having her teeth examined and her current dentist is brilliant. problems so far but if you are looking for advice there are some useful sites out there, for example....


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