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Isaac was born with a rare neurological condition called Sturge Weber Syndrome affecting only 1 in 50,000 people.

It is diagnosed if the child has a Port Wine Birth mark that covers the forehead and scalp. An MRI scan of the brain confirms that the blood vessels from the birthmark are growing over the surface of the brain and that Sturge Weber Syndrome is present.

Children often suffer from developmental delay and learning difficulties. This is more likely to happen if the children suffer from epilepsy as well. The seizures that they can suffer from damage the brain and can also cause Hemiplegia, which is a weakness to one side of the body.

If the birthmark covers the eye area then Glaucoma may be present. This is when the pressure behind the eye is raised and can then damage the optic nerve. Regular appointments are needed to keep a check on the pressure and eye drops or surgery will be used if it can’t be controlled.

Sturge Weber Foundation UK is a small voluntary based support group for the families affected by SWS. This charity has helped me so much since Isaac was born and I have met some amazing people at the annual family weekend and without them I would be completely lost with no one to talk to!

Here is Isaacs story…

Isaac was born 6 weeks early and spent the first 4 weeks of his life in hospital. On day 3 the doctors informed me that the bruising to his body was in fact a Port Wine Stain birthmark. Due to him having it over his eye area and scalp we were refered to Great Ormond Street London to be seen ASAP when we were discharged from Peterborough.

Our first appointment was 02/11/2010 to see Professor Harper in the dermatology department. He took us straight to the ophthalmology (eye) department, where we were told he has Glaucoma in his left eye where the birth marking was. We were started on eye drops straight away. Dr Sarah Ayett our neurologist at GOSH then saw us. She explained that he would need an MRI with contrast dye to show any blood vessels on his brain. Sturge Weber Syndrome can occur if the birthmark is on the forehead and scalp. He was diagnosed with SWS on 14/12/2010. We were told to expect him to have seizures (fits) before his 1st birthday. On 07/03/2011 Isaac had an eye operation to help his Glaucoma at GOSH. He was now on 4 different drops a day and they were not bringing his eye pressures down enough. 2 days later at 8am I went to do his first eye drop of the day and noticed his eyes flickering and rolling, before long his lips had turned blue. An ambulance was with us within 6 minutes, we then spent the next 10 days in Peterborough hospital. Once home he was getting on ok on his medication and although delayed was a happy boy. He started to walk just after the age of 2 and once he found his feet there was no stopping him!! We went such a long time with no seizures apart from the odd one here and there. On 08/12/2012 he had a very serious 2 hour 20 minute seizure, which resulted in him almost stopping breathing several times. Whilst in the Resus room at a&e we were told that he had not responded to any of the drugs given and that the only option left was to induce him into a coma. Luckily he came around out of the seizure, as they were about to go down that route.

The next 10 weeks we saw various different seizures weekly. The rough patch we were going through ended on 17/02/2013. at 11.55pm I found him choking on his back whilst being violently sick, he was already into a bad seizure so I dialed 999. Again he would not respond to any medication given and 2 hours 30 minutes later he was intubated and ventilated whilst being induced into a coma. a specialised childrens ambulance intensive care team transferred us to Addenbrooks in Cambridge where he spent the next 24 hours in a coma. Once he was brought round and was returning to his normal self days later, it was a relief to see that the seizure had not weakened his right hand side of his body. GOSH are looking into Brain surgery for him to help reduce the seizures. He will have his brain monitored by EEG for 5 days on reduced medication, if they can spot the area of the brain that triggers the seizures they will remove that area. There are various tests and research that needs doing first before surgery can be offered. 

 

 

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