About

Grace was just 6 months old when we were holidaying in North Devon in August 2008.  We noticed she was having some very strange convulsions, hard to describe but imagine a very forceful hiccup where her arms were thrown up, her eyes rolled to the back of her head, she momentarily stopped breathing and then started screaming.  These episodes would happen every thirty seconds for about ten minutes about two or three times a day.  She seemed to be in alot of distress so we decided after a couple of days to take her to the local GP.  I might add she is our third daughter and we are anything but hysterical parents!! I had videoed Grace during one of these strange episodes but the GP unfortunately didn’t seem that interested in watching it.  She said she could only examine Grace as she presented and simply put it down to Colic (a common mis-conception as it transpires).  We had friends with us on holiday so tried to carry on as normal but were desperate to see our GP at home.  A week later on our return we went to our GP but he was on holiday and saw another GP who briefly looked at the video footage.  He questioned why I was so worried?!! And gave us something  for indigestion.

As an ex-medical student I still have a lot of friends in the medical field and my video footage was subsequently e-mailed around the country.  Not wishing to alarm us it was suggested that we go to A&E immediately!!  After 4 hours in Exeter A&E I finally got to see a Paediatrician who watched all the video.  He at that point told me he thought it was West’s Syndrome- what a relief that someone was finally taking us seriously and we had a possible diagnosis.  She was admitted then and there and they wanted Mum to be with her.  So I left Grace at Exeter RD&E to go home.  As Emily was leaving to go to the hospital I quickly Googled West’s Syndrome and our world fell apart.  The internet is great but can also take you down some very dark paths.  I was on the computer all night and having watched some children with West’s syndrome on You Tube the spasms were so characteristic that I knew at that point she had it.

Her overnight EEG (brain scan) confirmed what we already knew and two consultants gave us the news the next morning.  Her prognosis was very poor with only a 15% chance of having a normal life.  She was like to have learning difficulties and could develop a number of other serious conditions. They told us of the current treatment available but also of a global trial which was looking at combining the two drugs that had up till now only been used independently. This ICISS trial (www.iciss.org.uk)  was lead by Professor Osborne in Bath who founded BURP.  We had an hour to read up on this in the car park and make a decision as to whether we sign Grace up for this trial.  It was a random trial and we didn’t know which of the three treatments available we would be assigned to Grace.

We both felt we had nothing to lose and signed online.  At that point we were told she would be tested with ACTH (Hormone) and Vigabatrin (anti-convulsant) together. (Vigabatrin has been banned in USA as it can cause loss of peripheral vision.  My feelings were that it would be better to have impaired vision with a good brain rather than perfect eyesight and nothing to process it with.) Grace was to be one of the first to have the drugs given at the same time.  Within an hour she had been given the drugs.  Within a couple of days her brain was effectively shut down.

For four months she made no noise, she didn’t cry, didn’t laugh, didn’t really move.  Just stared into space and ate and ate and ate – she put on half her body weight in one month.  Our little girl as we had known her had left us and we had no idea if this was normal.  I tried to join the three support groups online but had no response from any of them.  There were lots of accounts online but no-one had been treated with both drugs at the same time like us and it was impossible to compare notes – I felt there was little support for us apart from the excellent staff at the hospital and our friends and family. It would have been good to talk with someone in the same situation. It was certainly difficult time for us, especially for my wife Emily and at one time I was more worried about her.  On top of this we had been flooded out of our house!!

Anyhow throughout this period Grace didn’t have another spasm – all we could have hoped for at that stage. She was displaying some very worrying weird repetitive movements and gurning alot – again we had to put it down to the drugs or was it a suppressed spasm??  She had to have constant EEGs at regular intervals; a 2 hour procedure where 23 leads had to be glued to Grace’s head and then we had to get her to sleep!! – not that easy, but unbelievably it was reported that her EEG had returned to normal – quite unheard of.  She had a host of other tests to determine an underlying cause and possible other related illnesses but all came back as negative again which was really good news.

At Christmas her drug treatment stopped and we got the best present anyone could ask for – a smile, another and then laughter.  Grace was incredibly back with us.  When she had been completely weaned off the dugs we had a tentative few weeks – there was a chance the spasms could come back – but they didn’t. At that point I knew I wanted to do something to say thanks  to Prof Osborne and BURP.