At 3.03pm on Friday 13th July 2001 after a normal pregnancy our second son Jacob was born. A brother for Tom (then aged 6). As the midwife held him up we could see his bottom, legs and feet were purple. As she turned him round, I could see his face and scalp were also purple with two huge beautiful blue eyes looking inquisitively at me. I think I was still suffering the effects of gas and air as I said ‘Oh is he bruised?’ Well, I had been pushing for what seemed like hours! Logic then took over and we realised something was seriously wrong. Several paediatricians came and went with no firm diagnosis. By this stage my husband and I agreed it must be some kind of birthmark. We then tried to console ourselves with the fact that at least he was healthy, little did we know!
The bombshell was dropped a day later when a senior paediatrician confirmed Jacob had extensive Port Wine Stain (PWS) birthmarks and they would need to do an MRI scan to examine his brain as there was a very rare syndrome associated with such birthmarks causing numerous serious medical conditions. It was so rare we shouldn’t worry about it. We tried to put it out of our minds and carry on as normal. The possibility that Jacob might have this condition was too awful to contemplate. From the beginning, we were determined to treat Jacob just like any other child, so we did all the usual things such as going out for walks despite all the comments about ‘sunburn’ and what was wrong with our baby’s face. I also went to the ‘Baby Club’ at Horwich clinic as I had with my first son Tom (now 13). I won’t pretend it was easy but felt strongly that Jacob deserved the same experiences that Tom had.
The first few months passed by in a blur with lots of hospital appointments. Not the relaxing maternity leave I had planned. I also did lots of research regarding the condition, which we were told was Sturge Weber syndrome. It was extremely frightening to read words such as mental retardation, calcification of the brain, epilepsy and glaucoma. We were glad we had an appointment with the paediatrician to discuss this further. However, this was not as reassuring or as informative as we hoped. The local hospital decided they would not do an MRI scan at this stage as Jacob wasn’t showing any symptoms. However, they did agree to refer us to an eye specialist regarding the Glaucoma, as I had read that PWS on the eyelid can cause this.
After 2 traumatic attempts at obtaining a successful MRI scan in London we nervously awaited the results. My husband and I had discussed this in depth and decided that whatever the outcome we would continue to treat Jacob (now 7 months old) just as we always had and give him the same experiences and opportunities already given to our other son. Despite trying to prepare ourselves we were devastated when the Consultant at Great Ormond Street Hospital told us that Jacob did have Sturge Weber syndrome. She informed us about the high risk of developing Epilepsy (which he now has) and possible learning difficulties, by this stage we already knew he had Glaucoma. The only reassuring factor, which we desperately clung onto, was the fact that children with SWS varied as to how they were affected by the condition. No one could give us any guarantees or tell us what would happen. We had to wait and see how things developed.
This has been very difficult to cope with - trying to prepare ourselves for what may or may not happen. We have experienced a huge range of emotions - taking comfort that Jacob appeared to be developing as he should but also being afraid of what might develop. I was worried about Epilepsy - how would I know when he had a seizure? (there are many different types) and would I be able to cope? I have coped because I have had to and at times have surprised myself, finding reserves of strength to deal with some very difficult situations.
As the condition is rare it’s only within the last year that we have met parents and other children with SWS, through attending a Birthmark Support Group Fun Day in Liverpool and attending the Sturge Weber Foundation UK family weekend. We have recently met a family with a little boy who has SWS living only seven miles from us and we keep in regular contact.
He has now had 8 sessions of laser surgery which have helped to lessen the redness of the birthmark on his face, but we have had to accept that it, and the conditions it causes, will never go away. We have learned to deal with people’s reactions which range from staring, pointing and all kinds of comments such as: he’s been sunburned, had his face painted (as what?), got chicken pox, eczema or measles. Although this is not always easy to cope with and I’m afraid my response to this ignorance does depend on how I’m feeling at the time. I have had to learn to control myself as I wouldn’t like to Jacob to repeat some of the things I’ve said in the past!
With regard to Sturge Weber Syndrome, Jacob does have Epilepsy and Glaucoma and although he has met most of his developmental milestones it became apparent when he started mainstream school that he would need extra help. After quite a struggle, we have now been successful in obtaining a special needs assistant for a number of hours each week to support him in class. Jacob has also had surgery to try to reduce his eye pressure with possibly more to follow and has to wear glasses and a patch on his right eye due to poor eyesight, which is easier said than done. My sister brought him a special Captain Hook pirate patch from Disneyland which I thought he’d love. He took one look at it and said ‘I’m not wearing that!’
Jacob has brought us much love and happiness and also taught us some very valuable lessons in life: We are all individuals and should accept and value each others differences and never take anything for granted, particularly good health. We have also been in contact with many lovely people whom we wouldn’t have met but for Jacob. It has been quite an emotional rollercoaster ride and the journey’s continuing, but Jacob is such a wonderful brave little boy who just gets on with life with a smile. We are so grateful for everything he can do and just want him to achieve the best he can, whatever that may be.
reprinted from the Sturge-Weber Foundation UK Newsletter, April 2010