James is now 27 years old. When he was born in 1993 I was at first told his birthmark was congestion, but it soon became clear that the congestion wasn’t clearing. I was sent home to my husband Keith and our older son Daniel, with no other information just an appointment for the Well Baby clinic three weeks later.
It was quite emotional riding home from that clinic on the bus with James, I’d been so full of hope on my way to the appointment – hope that they’d say ‘We can do this or this to remove the birthmark’ of course there was no magic wand and reality soon set in and I cried all the way home. At this point no-one had mentioned Sturge Weber.
He was a very happy baby, and progressed as normal until at 15 months he suddenly had a seizure that lasted over an hour. At the hospital nothing they tried could bring it under control and they had to sedate him, intubate him and we had to follow the ambulance from our local A & E to Alder Hey Children’s Hospital in Liverpool.
Here he was diagnosed with Sturge Weber syndrome, he has a bi-lateral birthmark on his face but the brain angiomas are both on the right side of his brain, so all his seizures are down his left hand side. I found the Sturge Webster group on Google and read everything I could about the condition, it was a Godsend to know there were other people with the syndrome and at the time this was the only place I could get any information about it.
From the age of about 4 he had lots of laser treatment for the birthmark and it did lighten a little but he made the decision in his teens not to have any more treatment.
His epilepsy was quite well controlled with medication and he went to a mainstream primary school, he had additional support for developmental delay, and he was much, much smaller than the other children but they were all very protective of him. Around this time he started to have myoclonic seizures, he would suddenly jerk or fall if moving, he fell when running across the playground and chipped his front tooth. He was given medication to control these. Over the years he would have focal seizures from time to time but they usually resolved with midazolam.
At 10 years of age he had a series of seizures out of the blue, when he came round he was very drowsy and floppy, I tried to lift him but it very quickly became apparent that he had no control over the left side of his body. Paramedics thought it was a stroke, we were rushed to our nearest A & E, his breathing was very shallow so they intubated him and again he was transferred to Alder Hey. It wasn’t a stroke, it was our first (sadly not last) encounter with Todd’s Paresis. James’ recovery that first time took 6 weeks in total, from no movement at all on the left side of his body he went back to almost normal with the help of a great team of physios. He has had about 11 further episodes of paralysis in the intervening years with recovery time ranging from 1 hour to 6 weeks. Sometimes they happen without seizures and it is thought they are caused by issues with the blood flow in the angiomas on his brain. His mobility has been affected progressively over the years and he now has a rollator for walking, he drags his left foot a little and has some balance problems. He was also diagnosed with several hormone deficiencies, including, thyroid, growth hormone, cortisone, and testosterone, for which he takes tablets, daily injections and gel.
He has no problems with his eyes despite the birthmark being on both eyelids. He went to a special school for secondary education and was in supported education until he was 25. He now attends a couple of wonderful assisted work places where he indulges his love of woodwork, he helped to make these snowmen and reindeer there.
Over the years we have met many, many medical professionals who know nothing about SWS, I’ve had to be quite forthright in looking out for James, especially when he’s in hospital as the condition is often misunderstood. I would say to any parent, you know your child better than any doctor, so don’t be afraid of speaking up for them if you need to.
James is a very happy young man with a dry sense of humour, he has a girlfriend called Katie who he met at school, and he still lives at home with us and has no desire to move out yet.
I’m kind of thankful now that the stages of his journey with SWS were revealed to us progressively, it may have been too much to take in all at once and we’ve adjusted to everything along the way and just learned to cope. James is a very special person, and very much loved by everyone who knows him.
Julia Webster
