Sturge-Weber Syndrome (SWS) is a congenital, non-familial disorder caused by the GNAQ gene mutation. There are 3 types of SWS.
Myla has Type One.
This type involves both facial and brain malformations and may involve glaucoma. Seizures normally occur in the first year of life. Mental and physical development can be impaired to varying degrees, depending birthmark throughout the brain & eyes.
How does someone get SWS?
SWS has no clear genetic pattern, and two affected individuals almost never arise in the same family. The syndrome presents in all races and with equal frequency in both sexes. Port-wine birthmarks occur in 3 of 1000 newborns.
The majority of Myla's port-wine birthmark is on her forehead.
What is a port-wine birthmark?
The port-wine birthmark is often called .a stain. It is caused by an overabundance of capillaries near the surface of the skin.
Myla has had three procedures this past year to help reduce her port-wine stain and the effects it may have on her brain functions.
What are the symptoms of SWS?
SWS Symptoms can vary, but the most common symptoms are a port-wine stain, seizures, headache, paralysis or weakness on one side, learning disabilities, glaucoma, and low thyroid.
Myla had her first seizure at 8 months old. She has seizures and is on 3 different seizure medications, baby aspirin, and vitamin to help with side effects from all of her medications.
What can I do to help?
We would love to have you at Myla's Mission for SWS on the 3rd Saturday in May each year!!
If you don't wish to participate in the 5k you can join us for the silent auction or even consider becoming a sponsor! All monies raised from these fundraisers will benefit the Sturge-Weber Foundation and their research efforts.
& always remembering "Sturge-Weber is not contagious but awareness is!"