Misty Dress For Sturge Weber Syndrome

Get to know Sophia a little better...

Age: 5yrs
A Few of Her Favourite Things: The Wiggles music, cheese slices, swings, going over the bumps in a trolley and biting her brother! 

Diagnosis/es: Sturge Weber Syndrome. Sophia has bilateral SWS. Which in her case is comprised of glaucoma, epilepsy,  a kick-ass port wine stain over her face and body and significant mental and physical delay.

What does this mean in a nut shell?: 

Sophia’s birthmark is not just on the outside, it is also internal. It affects her brain and sits behind her eyes. In Sophia’s case it is bilateral, meaning it sits on both sides of her brain and has caused her frontal lobe region to calcify and essentially not form properly. This is why SWS affects every person differently - because it depends where the birthmark is present.

In terms of mental and physical delay, it’s hard to tell where she is at but at a guess probably presents at about 6-12 months old mentally. She can’t sit unsupported for any period of time, she is unable to stand, crawl or walk, however she can roll. She is unable to feed herself and can usually only chew soft textured foods or those she is able to break down. She is still unable to manage her toileting. She is unable to communicate with speech or sign at all. She does whine and smile in her own way that indicates happiness or sadness. She is unable to use one of her arms due we believe to a stroke when she was a newborn. Her understanding of the world is very limited and she is very very sensory. Most places are a no-go for her as it is too much stimulation.

 When was Sophia diagnosed?

When Sophia was a baby we obviously noticed her birthmark however she was given the all clear by a specialist clinic and were told it was just a port wine stain birthmark. At about the age of two or three months old she needed an eye operation for her glaucoma. At that time she became dehydrated in the fasting process in which she started having seizures. After a
whole host of further testing we were able to confirm with an EEG. I will never forget the day that the neurosurgeon walked in with about 6 other doctors. I was holding Sophia, my mum was with me and I just knew something was about to change forever. 

 Having a disability like this, what does that mean for Sophia’s future?

We found it very difficult in the beginning to know what would this mean for our family. Why us? What will her future be? However, we have since come to the realisation after all these years that her story isn’t written yet. Every single person with SWS is affected differently, so we don’t really even have a baseline to work from. We can manage each medical symptom of SWS separately and treat each medical issue as it arises but it is hard not knowing what Sophia’s future will hold. I was sad about that for quite a long time. I think as a mum to be (Sophia being our first) you dream of all the things they will do. When you have a sick child, you are always and forever reminded of what they can’t do. Of what they wont do. So I think for us we’ve made the decision over the years not to look at it like that. Her story isn’t written yet and that’s a magical thing. Her initial diagnosis was she will never be able to walk or talk. And although she isn’t walking, she can roll. And although she can’t talk, she has said a few words, one of which was “Dad.” Love!

 What would creating worldwide awareness mean to Sophia and other people with the same condition? 

This is the biggest thing for us. Awareness for Sturge Weber Syndrome is my dream. SWS is not contagious but awareness is!

For Sophia, and all of those worldwide, to be able to walk down the street without being stared at would be phenomenal. Just to be accepted. I have heard every single thing you can possibly imagine in relation to Sophia and her differences. Be it her birthmark or her physical presence. I am strong enough now to not let it affect me and I use it as a teaching moment. 

As I mentioned not all people with SWS are mentally affected. I got to meet the most beautiful bunch of humans in the USA at a conference we attended. There are many who have SWS and have only the birthmark and glaucoma aspect. They are just like you and me... but with a beauty mark!

Sophia stole our heart when she joined our community. Since meeting this beautiful family we have learnt so much about SWS and realised there really isn’t enough awareness for it. It is now our mission to change that!

Please join with us in spreading the awareness. Here’s how to get involved.

This Wednesday 5 September 2018, we are encouraging our amazing community to get behind the cause and snap a pic with a purple heart drawn on their face. We’d love to see your pictures uploaded to Instagram with the following hashtags to help us raise maximum awareness!

#LLheart4sws and #SturgeWeberSyndrome

 


Lacey Lane
Lacey Lane

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