Family Weekend 2010

Sturge Weber Family Weekend 2010 

20th Anniversary celebration

The Hilton Hotel, Warwick was the setting for the 2010 Family Weekend. After lots of preparation the weekend was finally here.  Registration on the Saturday was a good opportunity to meet up with old friends, new friends and go for a splash in the hotel pool!! The ladies from Cerebra were on hand to offer advice and were welcomed by many.


The evening registration was a time for everyone to get together before the evening meal. A children’s entertainer had the children captivated (and some adults too) and they really had lots of fun with the session. That hour gave a chance for all the grown ups to get a drink, relax and settle into the evening after the journey. Many had travelled far and wide to come to the Family Weekend and it was a great sight to see so many people supporting one great cause. The weekend brought along the 20th Anniversary of the Charity which is a fantastic milestone in the Charity`s history.
The Hilton did us proud on the food front, it was very tasty and plenty of it too. It was a good time to get to know other people and exchange stories. The evening then had the added bonus of a quiz which always leads to a degree of rivalry between tables and it was well received. Many thanks go to Jane Williams for organising the quiz and for her generosity in donating the prize for it. The raffle took place and the goodies were handed over and the evening chatter and enjoyment continued.

On Sunday morning we started with the children being registered with the Crèche team whether they were staying within the hotel complex or heading off on safari (just locally though!). So we waved the coach load of safari goers off to the West Midlands Safari Park on a crisp, chilly, but sunny Sunday morning. The other children were settled into the crèche and we began our morning conference with coffee, the best way to start and after a huge Hilton breakfast we were full to the brim.
Our welcome by Jenny Denham was brief due to the amount we had on the agenda for the day, a warm welcome was given out to all and the day began.
Our first speaker was Mr Vivek Josan. He is a Neurosurgeon based at Manchester Children’s Hospital and he gladly gave his time for us and he was a wonderful speaker. He began with an overview to the aetiology of SWS giving us information on its presentation and how the syndrome manifests. Seizures in SWS sufferers occurs in around 80% of those diagnosed with onset from around 6 months old and with 95% of seizure onset before the age of 5 years. He then went on to discuss the use of 2 – 3 drugs to control the seizures and should that not be sufficient to control the seizures then surgery is discussed.
Surgery criteria is very complex with many topics being considered. A thorough programme of tests and assessments are put in place to make sure the patient is within the surgery criteria. These include EEG, MRI, video EEG for 5 days where the patient is deprived of sleep and stops using medication to induce seizures so more in depth information is found from the patient.
Surgery could be hemispherectomy where the particular hemisphere of the brain is removed or disconnection of a particular area of the brain. Obviously surgery comes with complications as does any form of surgery, but hemispherectomy causes a cavity within the skull which in itself could lead to hydrocephalus and is prone to bleeding.
Peri Insular hemispherotomy is a total disconnection and is preferred by Mr Josan. The surgery can be completed in around 3 hours and has 100% success rate. It has a smaller surgical site, reduced risk of hydrocepalus, preserves the subarachnoid space and reduces the risk of aseptic meningitis and the recovery is short. Results are encouraging. 90% of patients are seizure free with a hemispherotomy. Surgery has an improved outcome if done at an early age.

For patients who have failed surgery or are unsuitable for surgery the possibility of Vagal Nerve Stimulation may be considered. 50% of patients with the device have 50% reduction in seizures. The device is the size of a 50pence piece and is placed under the skin in the collar bone area. It costs around £8,000 for the device and can benefit the patient with regards to mood and depression also.  On the downside, the VNS can worsen seizures in around 4% of patients.

Mr Josan took questions from the attendees after his speech and was a huge help to many families offering advice, offering to follow up questions for them and find out further information.  He was a very popular speaker and we are really grateful he gave us his valuable time to discuss neurosurgery with us.
Dr Samira Syed and Sister Jane Linward from Great Ormond Street Children’s Hospital joined us to discuss laser treatment and after care which is a poplar topic for many. They spoke about the vascular birthmarks and abnormalities of the veins. 3 in 1000 people will have a port wine stain and they are more commonly found in females.  Untreated PWS can darken with age so laser treatment is considered at an early age. 10% of patients will have reoccurrence of their birthmark and further treatment is needed. Great Ormond Street has now got a new laser machine, Cynergy Laser. It is in fact two machines in one, firstly a pluse dye and then a NdYAG which forms the multiplex machine. The NdYAG increases the number of vessels lasered and penetrates much deeper than previous machines. To a depth of 4.2mm. The machine is in the early stages of being used so updates on response is limited at present. After laser treatment Dr Syed sees her patients again after a 3 month period, so she is still awaiting further reports on its progress, but she is fully optimistic for good results.
Jane Linward and Dr Syed discussed the post laser care for patients, using strong moisturisers to prevent the skin drying out is vital to the recovery after treatment and to prevent scabbing and blistering.  Jane is a huge support for all the families who go to Great Ormond Street with birthmarks. She is very hands on and will always offer help and advice whenever it’s needed. The talk continued to focus on a multi-disciplinary team to support SWS sufferers and their families and the importance of diagnosis and treatment.
Dr Syed also brought up the topic of Hypothyroidism in SWS sufferers. She had recently been to Cincinnati to a conference and it was apparent that SWS sufferers may be prone to the condition, so she passed on that information and encouraged all sufferers to be tested. A blood test would be needed for diagnosis.
Again the attendees were very forthcoming with questions and both Dr Syed and Jane Linward gave advice and suggestions that everyone would find useful. They were very helpful and again we can only thank them for giving us their time to discuss the topic.

Chris Clark (OT) and Sara Staunton (S.L.T) came to give us information on the Sturge Weber Clinic which is run at Great Ormond Street with the support of Dr Aylett (Paediatric Neurologist).  Their current caseload is 57 children and they are the only multi-disciplinary health service for children in the UK.
The clinics aim is to offer diagnostic information and prognosis of patients. They give support and advice with regards to epilepsy treatment, Occupational Therapies, Speech and Language support and are a liaison with the family. They also have the ability to give referrals to other departments and make sure each child is getting good local support. Behaviour advice is available and again they can help with getting the right services for each child’s needs. The time they had to share with us was cut a little short due to our full program but they offered to spend the full day with us at conference and were happy to offer help or answer questions for our attendees which was much appreciated.
Lunch!! Wow it was good!! After a morning of really interesting and informative talks everyone’s other hot topic was lunch. It was lovely and everyone got a starter, carvery and dessert. Could get used to it to be honest!! It was a chance for the children who were in the crèche to get back together with their parents for an hour or so and report on the morning’s activities in the Crèche.
The afternoon session began with a talk by Brooke Rowan, a young adult with SWS. We had photos of her and her family and she talked openly about school life, college, hopes and dreams. She gave us a very personal and emotional insight into teenage life and it was very moving. It was lovely to hear about her life and her aspirations and she certainly did her family and herself proud. Well done Brooke. We didn’t have many dry eyes whilst Brooke was talking and she was very good role model for all young SWS sufferers and their families.
Dawn Macey and her son Matthew then shared their story with us. Dawn discussed her experiences of surgery as a Mum from when Matthew was a young toddler, he is now 16 years old. Dawn spoke about the feelings of having her son go through surgery, it’s outcome and his remarkable strength as he recovered and grew up. It was again an emotional insight for everyone into family life when surgery takes place. Dawn was able to share her sense of humour and gave us a super talk. We watched some film of Matthew after surgery and it showed us how he recovered, got stronger and dealt with his weakness in his arm following surgery. With the use of a support on his arm he is always willing to give things a go. We listened to Matthew chat about his achievements, his future hopes and aims in life. He has a very proud Mum and family and it was lovely for us to share that and see how Matthew has grown into a lovely young person who is enjoying life and is very happy.
Our final speaker of the conference was Miss Tina Kipioti a Consultant Paediatric Ophthalmologist. She came to speak to us about Glaucoma and she started with an overview of the condition. She spoke about the optic nerve and the optic nerve fibres being damaged causing peripheral and central vision problems (blind spots) and the increased fluid within the eye. Aqueous is the fluid produced by the ciliary body and in glaucoma there is a imbalance between production and drainage which causes increased pressure, a harder eyeball and too much fluid within the eyeball itself. In younger children the eyeball is much more elastic which enables them to cope with changes in pressure, whereas adults do not have the same elasticity within the eye leading to pain. 40-70% of SWS sufferers have glaucoma at birth which is congenital. It is an aggressive form of glaucoma which must be treated promptly. Port wine stains can cause glaucoma without SWS being present.
In the glaucoma clinic monitoring of the eye pressure is essential to protect the long term vision of each patient. Local anaesthetic drops of used to make the check ups slightly more comfortable as a probe is used to touch the eyeball to assess the pressure of it. In the majority of young children a general anaesthetic is needed to monitor the eye and examine it fully, but unfortunately general anaesthesia does reduce the pressure within the eye which is a draw back. Several pieces of equipment can be used to monitor the pressure, including a Tonopen, Icare machine where a small probe touches the eye and an ocular response analyser. Young children can become rather distressed, therefore general anaesthesia is used to avoid struggling and stress which can then lead to increased pressure within the eye causing a false reading. Another consideration in eye examination is that the pressure naturally varies during the day but preferably the pressure should not be above 21.
Examination of the eye is warranted to observe changes to the optic disc at the back of the eye also. Technology today has enabled a camera to take photos of the back of the eye for the consultants to view as a digital image and show parents and sufferers the areas they may be concerned with. Visual field tests are also done due to the problems mentioned earlier. Surgery is also an option if the use of drops to reduce pressure if not effective. Drops can be used in combinations to help drainage and reduce production so it may take a few combinations to find a good regime to keep the pressure under control.
Surgery is usually done as a day case. Trabeculectomy creates a new drainage channel which aids stabilisation of the fluid in the eye. Unfortunately this will not reverse any present damage to the optic nerve itself. Unfortunately surgery of this kind is not always successful as the channel can heal over, scarring can occur, bleeding, infection and cataract. It can work in the opposite direction and work too well leaving the eye with too little fluid in, so surgery is a big consideration for each patient. Should the surgery not work, then an Aqueous Shunt may be placed, which is a tubing that leads from the eyeball to a small chamber which is placed on the eyeball just under the eyelid. This enables the fluid to drain away freely. This is a permanent procedure which again is complicated surgery.
Cyclodiode is a procedure where the ciliary body is lasered to reduce production of fluid. The risks are that too much area is treated by the laser or too little so it can be very tricky to get the balance just right. This is sometimes done and considered before Trabeculectomy surgery.

Miss Kipioti then concluded, her speech touching on the congenital and lifelong aspects of glaucoma and the complications involved with it. She gave us a very informative talk and again she took questions from the attendees which she answered gladly.

We wish to thank each and every one of the professionals and family members who gave up their time to come and share their knowledge and experiences with us. The weekend was a great success and many thanks to them all. We wish to thank Pam and Alan Stevens who organised the Christmas cards again for us and sold them throughout the weekend.

Finally the AGM took place. Jenny, Tracy and Sarah were re-elected as committee members and I was elected to join them. The afternoon had passed quickly and the family weekend came to a close. The children who went on safari returned and had enjoyed their trip out. All the children were reunited with there families and after coffee and chat people started to head towards home.

So that draws a conclusion to my brief (not quite) account of the weekend. I’m sure I’ve missed bits, not mentioned everyone I should but I do wish to say a big thank you to all the families who travelled and made the weekend a success. Without the continued support we couldn’t run an event like this and it’s important that we all can meet up, gain friendships and support because we all have been on and are still on our individual journey with Sturge Weber Syndrome. I personally enjoyed the weekend greatly as it was mine and my family’s first experience of the event and we met some lovely people and came away feeling we’d gained so much.

Here’s to the next one!!!!
                                                Andrea Jackson.

Sturge Weber Weekend-West Midlands Safari Park

Sunday 24th October 2010. A coach arrived to take all the children off to West-Midlands safari Park so the adults could have a ‘fun’ day full of speeches and people talking. Whilst the younger and less able children stayed in a crèche, the rest of us had a great day out. We drove for an hour on the coach and reached the zoo. After a quick toilet stop we were ready to go and see the animals. We took the drive through first desperately hoping a monkey would jump on the top of our coach or pull off the windscreen wipers. This did not happen however we did get to see white lions, tigers, elephants without a fence in the middle and many other fantastic animals up close. Afterwards we headed over to the café and had a spot of lunch before going to the reptile enclosure. We saw massive snakes and colour changing lizards. Not something you see everyday. We then went to see the bats. It was pretty dark and smelly so most of us chose not to go in. It was noisy and bats flew within millimetres of us, however a great experience. We were in there for ages but in only seemed like a few minutes. Unfortunately we missed the seal show but we still got to see them being naughty and splashing everybody. We had seen lots of amazing animals that day but at 3 o’clock it was unfortunately time to go home. We all got a party bag and a great day out. I can’t wait until next time!

Katie Rowan.