Our Heroes

Rayan's Story

Rayan was born in October 2008 and it was one of the happiest days of our lives. What we didn't know was that this was too be short lived and were about to be taken on a journey of pain and despair. It was the first weekend in February and we were all ready to go to Wales to see my parents, when all of a sudden Rayan went really quiet and turned to the left, there was no response. This lasted for about 10 seconds, he came around and he was absolutely fine and happy. We did not think anything of this, but there was clear doubt in my mind that something was not right. I didn't want to say anything to my husband as he would have thought I was worrying for no reason.

We arrived in Wales late Saturday afternoon and everything was fine, Rayan was back to his normal self and he spent the rest of the day playing with his cousins and my parents and enjoying the attention that they were giving him. There had been no further signs until the next day, Rayan was in his bouncer and he did the same thing again, but this time he started turning blue around the lips and was out of it. By this time, Asim had left to go back to London as I was staying in Wales with my parents. Thankfully my brother was there, so we took Rayan to A&E straightaway, again after this incident, he was ok.

We got to hospital and they did a CT scan, Lumbar puncture to check for meningitis. They did all the tests but nothing came up, so they decided to keep us in hospital and monitor Rayan overnight. That night, Rayan started having seizures on the left side, which would then become generalised seizures. They couldn't explain why this was happening, so they decided to do an EEG which did show that something was not quite right with the right side of the brain which causing his left side to seize. They started him on medication, but nothing was working. The hospital in Wales was not prepared to do an MRI scan as we were not in the right postcode and would have to have this back in London. After 7 days the decision was made to transfer us to St Georges in Tooting, where it took another week before they did an MRI Scan. I can remember that Friday vividly when the Consultant broke the news that something was not right and Rayan had a condition called Polymicrogyria, which was causing him to have seizures. You often start blaming yourself and think you did something wrong, but my pregnancy had been uneventful and she was adamant that there was nothing I could have done about it. It was all very painful but we had to focus on Rayan and to stop him from having his seizures.

We had some really bad days when Rayan was having up to 30 seizures a day, we spent a month in hospital, the aim was to send us home when Rayan was seizure free, but this was looking less and less likely and we just wanted to get home and get back to some normality. Rayan continued to have seizures everyday for a long time. His seizures soon turned into infantile spasms, which has a serious effect on developmental delay. They tried so many different medicines and steroids and then there was the Vigabatrin which cut Rayan's seizures by 50% almost immediately. With slow increments to the dose, we were, after eight months finally able to see light at the end of the tunnel.

Rayan is now five and has Global Development delay. He is attending a Special Needs school, which is the right place for Rayan. He is still having seizures, around one every 10 days. Having gone from having no seizures to the seizures returning is tough, but it makes us stronger and we just have to support Rayan through this.

We have decided to get involved with HOPE London as we needed that support where other families were able to understand the things that we were going through. It is beginning to get harder and harder when friends that have children that are Rayan's age are progressing as they should, and don't really understand what we are going through. I just hope one day that Rayan will have the ability to do all the things he wants to do.

Atia and Asim

Thomas's Story

Thomas was about 10 weeks old when we first noticed him making strange arm movements, as though he was punching his head. Although a little odd, we presumed it was just something new babies did. However, this continued to happen with both arms and later with both his legs, drawing them up to his tummy. We now know these were partial seizures. He then had his first tonic clonic seizure and we called an ambulance. Initial tests including MRI and EEG came back clear and we were told it was probably a one-off.  However the partial seizures continued and at 4 months old he was diagnosed with epilepsy and intravenous AEDs were started to get it under control.

Over the next few months his seizures evolved. He started to have more generalised tonic clonic seizures that would last 10-15 minutes. We noticed that he would have seizures at a very mild increase in his temperature which in most children would go unnoticed.  He was having more unprovoked "jumps" which we now know as myoclonic seizures or “jerks” and atypical absences where he would stare off into space, his eyes twitching from side to side and slurring his speech.

Out of all the different seizures types, the myoclonic seizures impacted the most on all our daily lives. The frequency of these could be anything from every few seconds to 4-5 minutes. They would make the top half of his body thrust forward with force and he would double over, putting him at great danger and risk of injury. He was unable to walk unaided in fear of him jerking forward and landing on his head or face.  We would have to sit holding him at the dinner table and in the bath to prevent him hurting himself the edge the table or his head going under the water. He would also hurt himself on toys he was sat playing with. We were exhausted as we were unable to relax for one minute.

We were referred to Great Ormond Street Hospital for more tests. One of which was for the Scn1A mutation. This came back positive and Thomas was diagnosed with a condition called Dravet Syndrome.  

As Thomas has got older it has become evident that he was developing autistic traits, mainly self-injurious behavior and no awareness of danger. He also has delays in his cognitive development as well as physical development. He has poor balance and is unsteady when walking.

In January 2013, Thomas started the ketogenic diet. A high fat, low carbohydrate diet that can reduce seizures. With a lot of tweaking and patience, Thomas still has seizures but they are less regular. Thomas continues through all his issues to be a happy, cheeky and charming little boy who continues to get on with his life the best way he can. 

Y'shua's story

I had my first tonic clonic seizure when I was 3 1/2 and by the time I turned 4 years old I was having uncontrolled seizures throughout the night, a couple of nights per week. I also started having tonic, A tonic and myoclonic seizures as well as tonic clonic during the day. I was commenced on Sodium Valproate which helped the day time seizures but my biggest problem was getting through the night and waking up in the morning! I then started to take Lamotrogine in conjunction with Valproate.

Doctors think I may have Doose Syndrome, but they are not wholly sure. My seizures remained uncontrolled for many years and I tried various other drugs and the Ketogenic diet but nothing worked. This obviously impacted hugely on my education. I have problems with my memory, attention and concentration and have been diagnosed with Attention Deficit Disorder too.

When I reached 8 years old my seizures were getting worse through the night and we changed my medication again to that which I initially tried, and this time it is working.I am currently having a few seizures every couple of months. I am obviously feeling much brighter and happier!

I really enjoy coming to Hope; meeting and playing with other children with similar problems to myself. It helps me to understand my own condition. It is great for my Mum to be able to talk to other parents who can entirely empathise with concerns regarding Epilepsy, discuss new treatments and ask advise from professionals who attend. Before Hope was set up, my Mum had no support network. I really look forward to the monthly groups and feel that I've made some great friends.

Alana's Story

My name is Sue and I live with my husband, Roy and our lovely daughters, Sophie and 12 year old Alana, in West London.

Alana was a very happy and content baby and even at a young age displayed a great sense of humour. She adored her big sister dancing and singing in front of her. At about 4 months I noticed she would roll her eyes up occasionally and after I mentioned this to the health visitor, the GP referred her to the local hospital. Whilst we waited for an appointment I also noticed that she wouldn’t put any weight on her legs. She was seen at 10 months but nothing was found to be amiss and we were just given a follow-up appointment for 3 months time. I noticed she was behind her big sister’s development but I just thought that Sophie had been advanced and after all not all babies are the same. During this time she kept failing her standard hearing tests as she just didn’t seem to respond. I knew she could hear and wasn’t too concerned that she failed the first test. Just before we went for our third test (this time in front of a doctor) Alana started to do funny little jerks just after she woke up from her nap. As we went in for the hearing test I had to wake her up and Alana obliged by doing about 10 little jerks in front of the doctor. The doctor didn’t look too worried but said she wondered if Alana was epileptic and suggested trying to bring the follow up appointment forward. I was still blissfully ignorant of epilepsy – my only experience being of a college friend who had occasional seizures. She was seen at 13 months and after an EEG, was diagnosed with epilepsy and immediately started on Carbamazapine. She was then referred to the community epilepsy clinic and I still had the positive outlook that as soon as they had the epilepsy under control she would bounce back.

I now know that the jerks were mycolonic seizures and the eye rolling was probably a seizure too. Now when we can look back at home videos we can see Alana having almost imperceptible myoclonics, and complex partials from about the age of 5 months.

Alana development stalled completely and although I thought at the time she didn’t lose any skills she did in fact lose her attention and ability to focus on other people. Because she stopped developing her delay became greater as time went on and at our first epilepsy clinic appointment it became very apparent that she had considerable delay. The Carbamazapine was making her worse and she was immediately put on Clonazepam and slowly weaned off Carbamazapine. There was still no improvement and as she reached the therapeutic dose of Clonazepam, Sodium Valproate was added. She was finally weaned off Carbamazapine but there was still no improvement and in fact during the whole process of trying to find a drug that could help, her seizures had become far worse. She never had any classic tonic/clonic but had up to 50 a day consisting of myclonics, absences and complex partials. She was then referred to a tertiary hospital and they advised the next drug to try, which was Topiramate. It turned out to be a turnaround. Even before she got up to the therapeutic dose the Topiramate had a major impact. The myoclonics disappeared and she appeared to be getting just occasional absences and complex partials. She finally learnt to sit up by herself at the age of 20 months, after the Topiramate had an effect, and eventually learnt to walk just after her third birthday.

Very soon Alana was just taking Topiramate and Sodium Valproate as the Clonazepam did not appear to have had any effect. Eventually she was just taking Topiramate and she didn’t appear to have any visible seizures. But an EEG revealed that Alana has lots of “extra epileptic activity that does not result in a seizure”. After Topiramate was introduced she began to develop but never at the normal rate. She is now diagnosed with severe delay and at the age of 5 years was diagnosed with autism.

She has been for various genetic tests including Dravet Syndrome but no known cause has been found. It is assumed that she does have some sort of genetic mutation but that it is de novo. Her epilepsy is described as complex infantile onset epileptic encephalopathy.

Because of her epilepsy and severe delay Alana attended a special nursery, which provided OT, physiotherapy and speech therapy. She could never have coped in a typical nursery. When she went to school it was at a special unit, for children with communication difficulties, attached to a mainstream primary school. There, as well, she received OT (especially sensory integration) and speech therapy was embedded in the school day. She is now at a specialist secondary school for children with autism. She continues to progress and do well.

Although the Topiramate appeared to control her daily seizures well, she suddenly developed another type of seizure at the age of 4 years old. She collapsed, as I was taking her for a walk and I rushed her to hospital where she fitted for 3 hours and was diagnosed with status epilepticus. We left with the emergency drug Midazolam, in case it happened again. She was great for two years when it suddenly happened again. This time she had a seizure for less than an hour. Since she was 4 years old these statuses have happened on average once a year. She also changed drugs from Topiramate to Keppra. This drug change has only seen more improvement. Her speech has developed significantly and she seems even more aware and willing to learn.

So, we consider ourselves very lucky. She is on drug that controls her seizures and we have been very fortunate to have not had status for 20 months. Fingers crossed that puberty is having a beneficial effect on her seizures. I would love to bin the Midazolam, but not just yet!

Alana’s illness has had a huge impact on our family life. The behaviour caused by her autism and sensory processing difficulties, as well as the potential to have status, have meant that she needs constant supervision and there are many places that we have not been able to go to as a family. HOPE London is one of the few places that provides a safe, non-judgemental play environment where we can let Alana be more independent from us. At the moment, we still need to carry rescue meds and this inhibits where Alana can go and who can care for her. Alana’s illness has also impacted on Sophie greatly. But she is a fantastic big sister and the two adore each other, often having great fun singing at the top of their voices to the latest songs.

Alana is a great reminder that all children are complete individuals. Despite her autism she is very sociable and she still has a great sense of humour, which is very infectious and she never complains about her difficulties.