Couple raise awareness of rare disorder after baby daughter's 'living nightmare' diagnosis
A Shropshire couple are trying to raise awareness of a rare genetic condition after their baby daughter was diagnosed with a disorder at just five months of age.
Megan Salvidge, 25, and partner Liam Kettle, 26, were overjoyed when Megan became pregnant with their first child last year. But when baby Darcie Kettle was born to the Telford couple in July, the pair were not prepared for the “living nightmare” that was to follow.
“I had a few complications during my pregnancy but nothing that was down to the condition that we later discovered Darcie had,” mum Megan, explained.
“Darcie was diagnosed at five months when she started having these involuntary movements, which we later found out were infantile spasms – effectively a type of seizure,” said Megan. “She was having around 20 of these seizures a day at the minimum, and at least ten when she woke from her naps. She would throw her arms out and her eyes would roll to the back of her head. It was really scary.”
“We had no idea what they were or what was happened so we called the local doctor straight away and he sent us to the Princess Royal Hospital in Telford where they undertook a brain scan.”
Darcie was then transferred to the Stoke Royal Hospital in Staffordshire for a more sophisticated EEG brain scan, but when Liam and Megan were returning home with their daughter, they received a call from the hospital.
“We were driving home and they called with the results and said we had to go back to hospital straight away,” remembered Megan.
Darcie was taken to the Princess Royal in Telford where it was revealed that infantile spasms she had been having were a rare form of epilepsy, and doctors had uncovered the cause.
“We expected to find brain damage in the scan as this is what happens with these seizures, the brain gets damaged each time, but they also found she had tumours on her brain,” Megan recalled. The benign growths, which had been causing Darcie’s seizures, were due to a rare, genetic condition called tuberous sclerosis complex (TSC).
TSC causes non-cancerous tumours to erupt in the body, such as in the brain, eyes, heart and skin.
The genetic disorder affects around one million people worldwide and fewer than 1:15,000 people in the UK have the condition.
“It is genetic so either Liam or I must carry the gene but do not have the condition.
“At the moment we know Darcie has these tumours in her brain and her skin, but she may also have them in other organs,” Megan said.
She added that while there are two medicines on the market that can help treat the symptoms of TSC, the condition itself was “incurable”.
“We just don’t know what is going to happen. We already know Darcie has brain damage, but if her other organs are affected she could end up with liver, kidney or heart failure,” Megan continued.
While some sufferers of TSC can go onto lead a relatively normal life, that is not the case for baby Darcie.
“Around fifty per cent of sufferers get these infantile spasms, but she is also one of only 10 per cent with the condition that also has something called SEGA (Subependymal Giant Cell Astrocytoma), which is a tumour in the ventricles of the brain, so there is a chance she will have to have brain surgery,” said Megan.
Megan is now taking part in a 10k mile walk to raise money for support and research group TSA (The Tuberous Sclerosis Association), and has set up a Go Fund Me page.
“When we first found out, we did not know what to do or where to turn. We then found the TSA so we’re raising money for them because having them there is so important,” she said. “I know in the future we will have to lean on them for help.”
She says the TSA provides support, arranges trips, and funds research into the genetic condition, and the couple have already raised more than £6,000 for the charity.
“We have been through hell and don’t know what the future holds,” Megan said. “We are in limbo.” as we still don’t know if Darcie will ever learn to walk. We know that she already has brain damage so possibly faces learning difficulties too.
“But we are lucky in that we were taken seriously by all medical professionals we came into contact with us, despite it being such a rare condition that isn’t often diagnosed quickly enough, but Darcie was diagnosed with in 48 hours of turning up at the hospital, and her first brain scan was within 24 hours.
“Despite living a nightmare, we hope more awareness can come from this we can raise money for the TSA as we’ll need them in the future as will other parents who may have to face what we have.”
The fundraising page for Darcie can be found on justgiving.com/fundraising/megan-salvidge.
