Monday, May 1, 2023

Information about Sturge Weber Syndrome

In 1982, my son Matthew was born with a Port Wine Birthmark, and later diagnosed with a neurological disease called Sturge Weber Syndrome.

Right after I gave birth to my son Matthew in 1982, I did as probably all parents do. I counted his fingers and toes and checked him over. The first thing I noticed was the large reddish-purple area covering his left eye and forehead. However, the doctors and nurses assured me that it was just from the difficult delivery. Later that day I was devastated when I found out that it was a Port Wine Birthmark, and he would have it forever. All throughout a pregnancy you dream of having a perfect baby, and have hopes and dreams for them. As a parent you want the best for your child. When you realize that you don't have that 'perfect' baby, you think about that childs future. You worry about the difficulties that child will have to endure. But after the initial shock, I realized that the birthmark didn't matter - I DID have the perfect baby!

Aside from the Port Wine Birthmark, Matthew was completely 'normal' until he was 14 months old. He reached all of his developmental milestones on time, or early. He practically skipped crawling and was walking by 9 months. Every time I took him for routine check ups, his pediatrician was happy with his progress and development. He was alert, active, vocal, and thrived like any typical baby. However, on November 13, 1983 when he was just 14 month old, our lives changed completely ...

Matthew had his first seizure and was rushed to the emergency room. After arriving in the emergency room, the seizures were uncontrollable and his heart stopped several times. He spent 5 days in the Pediatric Intensive Care Unit trying to get his medications and seizures under control. The doctors informed me that his prognosis wasn't good. They explained that there was very little known about this disease, but what they did know was discouraging. I was told that his life expectancy would probably be about 7 years. He would probably become blind and paralyzed and he was at high risk of having strokes. I was also told that chances were that if he comes out of this he would probably be severely mentally handicapped.

If it were today, I would have pulled out my phone and started Googling for information. However, in 1983 I didn't have that technology. I didn't have a cell phone or a tablet or a laptop. I couldn't search Google or Twitter or Facebook for information. So, during those days while he was in the PICU, I snuck away periodically to the hospital medical library digging through volumes of medical journals and books searching for any information that I could find. Needless to say, what I did find I barely understood. And what I did understand was devastating.

As most parents do, I took it day by day and dealt with everything as it came. Those first several years were filled with doctors appointments, lab tests, CT Scans, MRI's, medication changes, and hospitalizations. I continued to search for information, consult with specialists and ask questions. It wasn't until 1987 when the Sturge Weber Foundation was formed, and it was several years later when I discovered it. I was so thankful to find a source of information that hadn't been available.

Because of research, donations, and awareness through the foundation, here's some of what we know today ...

  • Sturge-Weber Syndrome (SWS) is a rare neurological disorder that affects approximately 1 in 20,000 to 50,000 live births.

  • SWS is characterized by the presence of a port-wine stain birthmark on the face and/or head, which is caused by dilated blood vessels in the skin.

  • SWS can also cause abnormalities in the brain, including the development of a vascular malformation called a leptomeningeal angioma. This can lead to seizures, developmental delays, and other neurological symptoms.

  • The severity of SWS can vary widely from person to person. Some individuals may have only a mild port-wine stain and no neurological symptoms, while others may have more extensive birthmark involvement and significant neurological impairments.

  • SWS is usually diagnosed in infancy or early childhood based on clinical signs and symptoms, as well as imaging studies such as magnetic resonance imaging (MRI).

  • There is no cure for SWS, but treatment options may include anticonvulsant medication for seizures, surgery to remove the leptomeningeal angioma, and supportive therapies such as physical and occupational therapy.

  • With appropriate management, many individuals with SWS are able to lead productive and fulfilling lives. However, some may experience ongoing neurological symptoms and require lifelong care.

  • SWS can occur in individuals of all races and ethnicities, and affects males and females equally.

  • Approximately 30% of individuals with SWS have glaucoma, a condition characterized by increased pressure in the eye that can lead to vision loss if left untreated.

  • In 2013, the GNAQ gene mutation responsible for Sturge-Weber syndrome was discovered. Researchers now understand the cause of both Sturge-Weber syndrome and Port Wine birthmarks, and are investigating the optimal studies for treatments.

  • SWS is named after the two physicians who first described the condition in the medical literature in 1879: William Allen Sturge and Frederick Parkes Weber.

I am so very thankful to the Sturge Weber Foundation and am committed to continue to spread awareness. Matthew is 40 years old now and has accomplished so much so far. He's married and has 3 beautiful, healthy children, living his best life. I am extremely proud of him and can't wait to see what the future has in store for him.

If you'd like to follow our story, I have created a Facebook page that you can follow. Just click here ...

Thank you so much for stopping by today! If you have any questions, I'd be happy to answer them if I can. Feel free to leave a comment or contact me


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