Sturge Weber Syndrome

I thought I'd try and write a post to say a bit more about Hallie's diagnosis (if my two mischievous sons will allow me!)

Last week Hallie was diagnosed with Sturge Weber Syndrome (SWS) - this was not a complete shock as we had been forewarned the week Hallie was born by the neonatal consultant who came to visit me at my bedside.  He had written it down on a piece of paper and told me briefly a list of possible complications Hallie may have if she did have SWS. 

For those of you that read my blog because you want to know more about SWS - here comes a detailed explanation taken from various resources (including my head)!

Sturge Weber Syndrome occurs in the first weeks of an embryo's life.  It is an abnormality of the central nervous system (I think) and is not hereditary.

Symptoms of SWS include:-

•  A Port Wine Stain of the skin (usually around the eye and forehead area as this is near the trigeminal nerve which is connected to brain activity). 
• A layer of blood vessels touching the surface of the brain called an angioma (these blood vessels can irritate the brain causing seizures).
• Glaucoma - raised pressure in the eyes caused by increased level of blood vessels in the back of the eye.
• Developmental delays and learning difficulties - this is more likely to occur when a child with SWS has the epileptic seizures.  When the blood vessels on the brain (angioma) are on both sides of the brain this is more likely to cause severe learning disability.
• Sometimes the child will have weakness of limbs on the opposite side to that which is affected by the angioma on the brain.

Hallie is due to go back for her second eye appointment on 1 November - her eye pressures measured at 16 - 19mmHg in her right eye (the one completely covered with PWS) and 12mmHg in her left eye on her first appointment aged 4 weeks old.

An appointment has been pencilled in for Hallie to be seen at the specialist SWS clinic at Great Ormond Street in December.  We will hopefully get a chance to chat to Dr Aylett, the specialist who is very knowledgeable with the syndrome. 

Hallie is also pencilled in for her first laser treatment in January at Leeds.  I haven't changed this as a few parents on the Sturge Weber Facebook Support Group have reassured me that Hallie would be treated in a children's ward which made me a little happier.

I have found it invaluable having the SWS support group on Facebook and am so thankful for modern technology - I would feel so alone and helpless without the internet and Facebook and the numerous people I have become connected to via support groups.  The same can be said for the autism support groups I am connected to on Facebook too (that's another story though!)  Contacting the consultants is so quick and easy and I can get in touch with a few of them via email and get reassuring replies a few hours later.  All this support and information helps keep me calm and collected which allows me to continue fighting for Hallie's referrals and appointments etc.

I still haven't seen the neurologist regarding the results of Hallie's MRI brain scan.  He has been away.  I am hoping to contact him this week and ask where on the brain Hallie has the angiomas.  I am guessing it isn't extensive otherwise her behaviour wouldn't be as it is - but I don't know how it all works.  I am under the impression the parts of the brain where the angioma touches are the only parts that are affected when the child is having an epileptic seizure - which is why sometimes a child can carry on playing normally whilst having a seizure... this worries me and makes me anxious I will miss a seizure or not notice her first one straightaway (if she has any at all that is)  The symptoms above do not all occur in every child with SWS. 

Most symptoms occur in the first year of life.

Epilepsy:

approximately 80% of people with SWS have epilepsy - in most cases the epilepsy starts in the first two years of life and if by age 5 Hallie has not had a seizure she isn't likely to.

I am to watch out for twitching or jerking of the limbs on one side of the body, or jerking involving all limbs with loss of awareness.  Absence seizures (where child appears "not there"), drop seizures where the child will drop to the floor and episodes of limbs becoming stiff. 

The seizures I am worried about are the subtle ones where the child may just have a change of breathing or just a slight twitch of the hand or foot for example.

{I have taken a lot of this information from a booklet on SWS written by Dr Sarah Aylett from GOSH}

PLEASE SEE www.sturgeweber.org.uk FOR MORE INFORMATION ON SWS AND HOW TO SUPPORT THE CHARITY.