Isaac with his mum Louise

My boy has Sturge-Weber syndrome and myasthenia gravis, but he takes everything in his stride

Louise is sharing 12-year-old son Isaac's story to mark Rare Disease Day

Louise’s son Isaac, 12, was born with a rare neurological condition called Sturge-Weber syndrome (SWS). Here, she shares his story to mark Rare Disease Day 2023.

In 2020, Isaac had brain surgery to remove almost half of his brain in order to help with the severe epilepsy caused by his SWS. SWS affects the skin and nervous system and is caused by a gene mutation.

Babies with SWS are often born with a birthmark on their face known as a port-wine stain, caused by enlarged blood vessels under the skin. Other symptoms include seizures, headaches, paralysis and learning disabilities.

Four months after the surgery, Isaac’s condition started to deteriorate – his voice became nasal, he was unable to suck from straws and his had lost his smile.

An MRI came back clear, but over the next few weeks he got progressively worse – his speech was severely impeded, he was struggling to swallow food and drink, losing weight and becoming tired and weak.

Isaac in hospital following his operation
Isaac in hospital following his operation

Tests confirmed his swallowing muscles were paralysed and after a year of investigations at Great Ormond Street Hospital, Isaac was diagnosed with a rare neurological autoimmune disease called myasthenia gravis.

He was given medication, which had an almost instant positive effect.

His mum Louise said: “I was over the moon something had finally been diagnosed.

“The next day after taking the tablet, he walked in from school with such a huge smile on his face and a clear voice.

“I was absolutely shocked to see such a change!”

While Isaac’s symptoms have improved, he still gets muscle fatigue and still has a smaller appetite than he used to.

He recently had a plasma exchange and a thymectomy – where the thymus gland is removed from the chest – to help with his condition.

Isaac’s SWS also means he experiences seizures and is blind in his left eye.

Isaac enjoying a day out
Isaac now lives with Sturge-Weber syndrome and myasthenia gravis.

Louise said: “It has been a long road but despite his struggles, Isaac takes everything in his stride and is a happy, cheeky boy.”

Categories: Guest blogs, Real life stories

Published: 27 February 2023