A Sturge Weber diagnosis can be frightening for parents, but what can be done to help children with this rare condition?
Sturge Weber syndrome is an uncommon neurological condition which is usually characterised by a facial birthmark called a port wine stain (PWS). The birthmark can be on one or on both sides of the face and often appears on other areas of the body. The syndrome can be difficult to diagnose as it is rare, and damage to the brain tends not to be visible on early MRI scans.
Seizures with the syndrome can commence any time, although they have usually begun within the first year. It can be a huge shock for parents when their child starts to have seizures as they usually have no idea that the child has a medical condition associated with their PWS. The children are often subjected to a barrage of tests, including lumbar punctures, to try to find the cause of the seizures. When the child eventually receives a diagnosis it can be frustrating if the consultant doesn’t know a great deal about the condition; some parents have even been advised to Google information. This, of course, can be very shocking, as they usually come across the worst case scenarios for the syndrome and see images of children with severe PWSs, sometimes all over their body. It can be very frightening and isolating having a child with a rare syndrome and it is not just the public that needs educating, it is also the medical profession.
Treatment and support
Treating seizures related to the syndrome is different to treating epilepsy; children are often left with a weakness on the opposite side of the body to the birthmark after a bout of seizures and sometimes it can take months for their strength to come back. These seizures are likened to mini-strokes.
Often, when a child has tried every combination of drugs available, surgery is the only answer and many children have a hemispherectomy. This is where one side of the brain is removed or disconnected in order to try and stop or reduce the seizures. Deciding to opt for surgery is a lengthy and emotional process; there are always the “what ifs” when making the decision, but seeing their child in a seizure for an hour or more, and being in intensive care in hospital on a regular basis, often gives parents the strength to go ahead. Surgery is not without risk, however, and many children lose the use of one side of their body after surgery. Most parents feel it is a price worth paying, though, if it means their child will stop having seizures.
Laser treatment is available to help lessen the redness of the PWS, and in some cases remove it. Laser treatment isn’t purely cosmetic, though; it helps to stop the skin with the PWS from thickening and growing nodules called blebs. If knocked, these blebs can bleed heavily, so laser therapy can help prevent this. Parents are also often criticised for putting their child through laser surgery by those who do not understand that is not merely a cosmetic procedure.
The syndrome also involves hemiplegia (a weakness of one side of the body), hemianopia (loss of half of the visual field) and glaucoma. If there is a birthmark in the back of the eye, the risks of glaucoma are high and it is vital that children are monitored and treated as soon as possible to avoid losing vision in the affected eye/s. Behavioural and learning difficulties and migraines are also common with the syndrome. It is essential that children are treated by a multi-disciplinary team in order to manage every aspect of the syndrome effectively.
School can be challenging for children with Sturge Weber. Children in mainstream school often need extra support in the classroom. Bullying of children with a PWS is also common. Schools need to ensure that they nurture an understanding and supportive ethos.
Lynn Buchanan is a trustee of the charity Sturge Weber UK. More information on the syndrome and support available can be found at: