Pointing Fingers Is No Laughing Matter For This Skin Condition

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Understanding Port Wine Stain Birthmarks

Growing up, I thought my dad’s port wine stain birthmark was normal. It was simply explained to my siblings and I as a birthmark, and that was all we needed to know. Or more accurately, that was all most doctors knew about it at the time.  I still remember the day I discovered the birthmark was actually a source of insecurity or uneasiness for my dad. It was career day in Mr. Checkett’s 4th grade class, and my dad came to explain his role in the grocery store business. As a youngster, going to the grocery store, meant visiting my dad, and often the bakery for a fresh sugar or glazed donut. Proud to have my dad speak that day, something hit me on the inside when the first question asked of him was, “Um… what is that red mark on your face?”

I recall feeling slightly embarrassed, and remember my dad handling the question like a pro by explaining it was a port wine stain birthmark (PWS). This was the first time I took notice of people asking him about his red neck and face. After the first question, there were a round of questions that continued of why was it so red, so big, and so on. My dad never really did get to talk much about the bakery and soda machine, with all the focus on his appearance.

At home that night, I asked my dad about the day. I was now curious, and I wanted to know more details about PWS. I now had a soft spot in my heart for all with Port Wine Stain birthmarks, especially after realizing that although my dad was born with it, it was something that sort of kept him on guard about how he looked to others.

Growing up around PWS, I had no idea it could be a source of sensitivity. Those with PWS get stares of curiosity, wonder, and perhaps disgust due to ignorance of not understanding. With strides made in knowing how this skin condition forms; let’s look at what PWS is:

  1. What is a Port Wine Stain Birthmark? It is discoloration of the skin caused by a malformation of blood cells, ia the easiest way to describe it. In technical terms it is nevus flammeus, a discoloration of the human skin caused by a vascular anomaly (a capillary malformation in the skin). It was named PWS because it appears as though red wine was spilled on the skin. The birthmarks mostly occur on the face or neck, but in some cases can be on other areas of the body such as the trunk or back.
  2. Are people born with Port Wine Stain? Yes, however in rare occurrences PWS can appear in early childhood. For so long doctors, scientists and researchers were in the dark trying to understand why PWS forms until recent gene research discovered a single chance change of the GNAQ gene is the root cause. GNAQ makes a protein that is critical for cell signalling. If the change occurs very early in fetus development the result in simple terms is a larger PWS and if later on in development a smaller PWS. 1 in every 300 babies are born with PWS. This gene chage is the equivalent of one letter changing in the bookshelf of small font that makes up the human genome.
  3. What else can a Port Wine Stain indicate? The birthmark can suggest other potential health risks such as Glaucoma (a condition of increased pressure within the eyeball, causing gradual loss of sight) and Sturge Weber syndrome. Sturge-Weber Syndrome (SWS) (encephelotrigeminal angiomatosis) is described by the Sturge Weber Foundation (http://sturge-weber.org/) as a congenital, non-familial disorder caused by the GNAQ gene mutation.  It is characterized by a congenital facial birthmark (PWS) and neurological abnormalities. Other symptoms associated with Sturge-Weber can include eye, endocrine and organ irregularities, as well as developmental disabilities. Each case of Sturge-Weber Syndrome is unique and exhibits the characterizing findings to varying degrees. The condition occurs in one of every 20,000 to 50,000 births.)
  4. Will the birthmark always be red? The mark is red as it’s a profusion of blood vessels however over time these can turn deep purplish and become of a more lumpy appearance. There are laser treatments available now that weren’t available, even a short while ago, that can lighten the birthmark- and in some cases make it almost disappear. Some choose not to have laser as “it’s just a birthmark” but others choose to in order to reduce psychosocial stress from potential reactions of wider public or other medical reasons.

When my classmates started pointing fingers and almost making fun of my father’s birthmark, it taught me an important lesson. PWS is no laughing matter, to make fun, just because someone has a visible difference. There are millions of people who share something in common with my dad – a PWS, even Ed Sheeran!

My dad, endured several laser treatments for his prominent birthmark which lightened its appearance significantly, however it did not remove it 100%.

Ed Sheeran on the other hand has no visual signs of his PWS birthmark.

Yes, Ed Sheeran has PWS. He is quoted in the Hollywood Reporter as saying, “I was a very, very weird child. I had a port-wine stain birthmark on my face that I got lasered off when I was very young; one day, they forgot to put the anesthetic on, and ever since then, I had a stutter.”

Will PWS or SWS ever be cured in the future? With the recent discovery of the genetic mutation that occurs by chance before birth research tends to lead itself into gene therapy. With all of the discoveries and enhancements occurring in the world of genomics, perhaps we will be able to reverse the gene change or prevent progression of symptoms.

Reference WebMD: https://www.webmd.com/skin-problems-and-treatments/news/20130508/researchers-pinpoint-cause-of-port-wine-stain-birthmarks#1

https://www.hollywoodreporter.com/news/ed-sheeran-stutter-speech-embrace-801170

Co-authored by John Sutton, a father of a young man with PWS and SWS.

 

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