A Sturge-Weber Syndrome Warrior
Maisie was born on January 21, 2023. With this being our second baby, we were not as nervous going in. Two pushes is all it took, and our sweet girl was born. While the nurses were cleaning her, they mentioned that it looked like Maisie had significant bruising on her face and body, and said sometimes that happens with fast births. Twenty-four hours later, when the pediatrician was making his rounds, he came into our room and told us that he did not think it was bruising on Maisie. He said it was a port-wine stain birthmark. Typically, birthmarks are harmless, but vascular malformations like these can be connected to other syndromes.
Maisie has had numerous ophthalmologist, neurologist, and dermatologist visits, along with EEGs and MRIs. Maisie has had a laser treatment every month of her first year of life and will likely continue through youth and adulthood. The laser will not get rid of Maisie's birthmark but will lighten it, keep it healthy, and prevent overgrowth. Maisie's birthmark is very reticulate and varies dramatically with her mood and temperature. If she's happy or it's warm outside, you can barely notice it. If she's upset or it's cold outside, the birthmark becomes very prominent and often purplish. She's like a little mood ring!
At 3 months old, Maisie was diagnosed with glaucoma in her heterochromic right eye and uses eye drops twice a day. At 11 months, an MRI confirmed Maisie had enlarged blood vessels on her brain, also known as Sturge-Weber syndrome. Maisie has a GNA11 mutation subtype of Sturge-Weber that is extremely rare and recently discovered, but it appears to be neurologically milder than typical Sturge-Weber syndrome. Nonetheless, Maisie will be at risk for seizures and strokes her whole life, but thankfully she has not had either so far. We will continue to see a neurologist and have EEGs and MRIs done to evaluate her brain and cognitive development. Maisie will see a glaucoma specialist her whole life, as surgery may eventually be inevitable. Continual monitoring by her pediatrician and dermatologist is also critical, to watch for hypertension, thyroid issues, and growth problems. Due to the birthmark being all over her body, she will have yearly sonograms and echocardiograms done to monitor for vascular issues.
Maisie is the happiest and strongest girl we know. After her laser treatments, she always comes out smiling. She gives the best kisses and has the most contagious smile. We're so proud of her journey so far and know she will impact lives one day!
