Fundraiser launched to support Peterborough 13-year-old with rare congenital disorder Sturge Weber syndrome
A fundraiser has been launched to support a Peterborough 13-year-old living with a rare congenital condition.
Freddie (13) was diagnosed at birth with the rare condition Sturge Weber Syndrome (SWS).
It is thought that the condition affects only one in around 50,000 and the Freddie is one of just three children in Peterborough with SWS.
SWS is a condition which usually presents in the form of a birthmark (port wine stain) involving the forehead or eye lid area, a layer of extra blood vessels over the surface of the brain and sometimes extra blood vessels in the lining of the eye.
The condition is caused by a chance change in the GNAQ gene at some point in early pregnancy.
As part of the SWS, Freddie has developed drug-resistant epilepsy.
Within the past two weeks, Freddie’s condition has taken a turn for the worse. On February 14, Freddie’s mum Karina found him slumped in bed after a seizure. After calling an ambulance, Freddie was taken to Peterborough City Hospital.
After three hours, he was discharged but once at home, he was sick and needed to go back in for anti sickness medication to help keep his anticonvulsant drugs down.
He then needed to be rushed to hospital again the following after looking not in a good way.
What Freddie’s parents were shivers turned out to be cluster seizures.
At 4pm on Monday (February 16), he was finally intubated and transferred at Addenbrooke’s Hospital in Cambridge.
He was sent home on Thursday (February 19) but was only at home for two hours before suffering another seizure and needed to be rushed back to Peterborough City Hospital.
Freddie’s care is being overseen by doctors from Great Ormond Street Hospital, who have suggested that he may need brain surgery if his seizures continue to worsen.
The recent seizures are the first time Freddie has needed to be intubated since 2018. He had his first seizure at ten months old.
Speaking about Freddie, his mum Karina said: “He is the happiest, kindest and sweetest boy.
"People always comment on how kind and polite he is. He;s really helpful and kind to others.
"He’s such a trooper that he takes everything in his stride, I don’t know where he gets it from!
"He is the best big brother to his sister (2) and they both absolutely adore each other. He’s her favourite person ever.”
The funds raised will go towards the cost of a night-time seizure detector as well as an anti-suffocation pillow.
Karina added: “I will also be buying the nurses on the ward at our hospital hampers as a thank you for all their hard work and donating some needed items to the ward for parents who need to stay in with their children. “After this I would like to give Freddie a half term he deserves, so will be taking him out for the day to do all his favourite things such as bowling (when he's up to it), Pizza Hut and just spending time with the family because him and his sister are missing each other a lot.
"We really appreciate everyone's backing and support and cannot explain how grateful we are as a family.”
To support the efforts of Freddie’s family, visit https://www.gofundme.com/f/nht9s-freddie?modal=updates.