What is Sturges-weber Syndrome? One-year-old baby born with birthmark on brain suffers seizures

One mother shared how her baby’s seemingly harmless birthmark was a sign of something far more sinister.

The third child of Rachael Holz and husband Sam Morgan, Rosie was born last October with a pink patch that extended from her right cheek, over her eye and across her forehead to her hairline.

The doting parent, from Wales, wasn’t concerned about the wine stain, but doctors diagnosed Rosie with a rare neurological brain disorder known as Sturge-Weber syndrome.

Rosie has had a series of terrifying epileptic seizures and had a “constant battle” with pressure on her right eye due to the syndrome, but no one knows how this will manifest as she ages.

The 27-year-old mom said strangers often stop and stare at Rosie and make unintentionally rude comments about her birthmark, but she’s learned to ignore the negativity.

Rachael wasn’t the least bit bothered when she first saw her daughter in the delivery room.

“I thought she looked beautiful the way she was, the birthmark was bigger than I expected when I was told she was born with a birthmark,” she told FEMAIL

“But mostly I thought she was perfect.”

However, doctors put a damper on her joy because they feared the birthmark could be an indicator of Sturge-Weber syndrome, causing extra red blood cells to grow on her brain and face.

“Basically like a birthmark on her brain,” Rachael explained.

“The fact that the mole was one-sided, covering over her eye and in her scalp, could be indicative of this syndrome, but they said they could only confirm it through an MRI scan.”

And when Rosie was six months old, the doctors confirmed her parents’ worst fears — she had Sturge-Weber, and no one could predict how it would affect her in the future.

“They told us that all people with this syndrome are affected differently and they couldn’t tell us what Rosie might be like, we would have to wait and see as she gets older,” Rachael said.

Rachael’s mind raced as she learned more about the condition and its worst-case scenarios, including bulging eyes from glaucoma, developmental issues, and terrifying seizures she had no experience with.

“The thought of her having epileptic seizures felt very heavy and frightening. I also found that because it affects all people differently and you don’t know how it might affect them, you can fall down a rabbit hole worrying about everything,” she said.

‘Will she ever be able to walk or talk? Is she having epileptic seizures? If so, will we be able to control them? Will she ever be able to drive? Will she lose sight in her right eye?’

“The things you can worry about are endless, because it affects everyone differently.”

Rosie was a happy baby, but Rachael and Sam noticed she had a “slight weakness” in her left side and pressure building behind her right eye, which the mother said was a “constant struggle” to control.

In October 2022, just after her first birthday, Rosie had her first seizure.

“We had been for an eye pressure check and when we got home she was really tired so I put her down for her morning nap as usual,” recalls Rachael.

“When I went to get her I noticed she wasn’t standing up in her bed like she normally is, she was still lying down. I asked her if she was okay and I saw she tried but didn’t roll over.’

Rachael lifted Rosie out of bed and realized that the left side of her body was completely weak and her leg was shaking.

“I took her downstairs and laid her down so she was safe and called an ambulance, I knew she was having a seizure. She had a focal seizure for about 30 minutes,” Rachael said.

Rosie was rushed to hospital where she was given anti-seizure medication to control her seizures and sent home.

The baby had another minor seizure a month later and doctors gave the parents a ‘rescue medication’ in case she had a third; however, treatment could only be given by paramedics.

“The first time they are administered, they have to be done by the paramedics when they arrive because inside [some] In some cases it can slow their heart rate and we don’t know how she will react,” Rachael explained.

In March, Rosie had her worst epileptic episode, where a focal seizure, in which patients may be aware of what’s going on around them but are unable to move or react, turned into something more serious.

“Rosie’s head locked up and she had a general full-body seizure where she struggled to breathe at some points,” said Rachael.

The snowy weather made it difficult for paramedics to reach the family home where Rosie was seizing.

“By the time the paramedics arrived, she was out of the attack. They checked on her and were happy with all her observations, so we were told to stay home and contact the epilepsy doctors in the morning,” said Rachael.

“I did this and her meds were increased again and told if it happens again I would give her the rescue meds myself if paramedics weren’t already there.”

Rosie takes medication twice a day to control her seizures and luckily she hasn’t had one since.

While Rosie is living a happy and healthy life, Rachael said she’s had to learn to ignore people who make comments about her unique facial marking.

She said a stranger at the supermarket called Rosie a “poor little thing” when she saw her birthmark and another told her to cover it up with makeup when she gets older.

The comments made Rachael “angry” at first, but now she, but now she and the whole family aren’t bothered by the “strange look” Rosie gets when they’re gone.

Rachael said she knows her daughter is “beautiful” and she will grow up “for the right reasons.”