Mom and Friends Run for Sturge-Weber Syndrome Awareness

What would you do to support your child? Would you take on a daunting 100 kilometer (62 mile) run? According to the Daily Record, a mother and her friends in Scotland are doing just that. Louise Courtenay’s son, Adam, was born with Sturge-Weber syndrome. Since his birth, 5-year old Adam and his family, including Louise, her husband David, and sisters Tegan and Emma, have been supported by the Children’s Hospices Across Scotland (CHAS). Louise and her friends, Kelly and Ailie, took on the “Run 100” challenge in September 2021 to not only raise money for CHAS but to bring awareness to Sturge-Weber syndrome.

Sturge-Weber Syndrome

To begin, let’s first get an understanding of what Sturge-Weber syndrome, also known as encephalotrigeminal angiomatosis, is. GNAQ gene mutations cause this rare vascular disorder, which is present at birth. These gene mutations affect capillaries. However, these genetic mutations are believed to occur after the embryo has been fertilized, and are not believed to be passed down through families. 

Overall, the condition is characterized by a facial birthmark (port-wine colored/port wine stain), as well as neurological abnormalities. The condition is highly variable, meaning patients can have all of the characteristics associated with Sturge-Weber syndrome, or only a singular one. These include:

  • A light pink to dark purple port wine stain on the face, which can affect anywhere from one eyelid to the entire face. The Sturge-Weber Syndrome Foundation explains: 
    • “In a patient with a facial port-wine birthmark, the overall risk of having SWS is only about 8% to 15%. The risk of having SWS increases to 25% when half of the face, including the ophthalmic division of the trigeminal nerve, is involved and rises to 33% when both sides of the face are involved.”
  • Neurological abnormalities which occur on the side of the body opposite the birthmark
    • These include: 
      • Muscle weakness
      • Paralysis
      • Vision problems
      • Headaches
      • Seizures
      • Developmental delays
  • Eye abnormalities such as detached retina, vision loss, glaucoma, or different colored eyes

Learn more about Sturge-Weber syndrome

Louise’s Run

When Louise’s son Adam was first born, the doctors noticed a birthmark on his face. He was later diagnosed with Sturge-Weber syndrome. Since then, Adam, now 5 years old, displays a variety of symptoms including blindness, muscle weakness, and seizures. He requires feeding and mobility assistance.

Adam brings so much to Louise and David’s life; she explains how much he means not only to them but to everyone around him. Since the CHAS helped the family, especially during treatment at the Robin House, Louise, Ailie, and Kelly knew they wanted to step up and make a difference. 

The three women admit that none of them are huge runners. However, this was a cause that they knew they needed to make a difference for. They see it as a positive challenge, a way to “keep the joy alive,” as the CHAS says. 

While running over 60 miles can be exhausting, it will be worth it in the end.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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