THE proud mum of a little girl who is one of only 150 people in the world with an ultra rare condition is sharing her story in a bid to help others feel less isolated.
Amelia Garnett, from Haydock, is a happy eight-year-old girl, however, she is also living with a condition called KCNB1 Encephalopathy.
KCNB1 encephalopathy is a rare genetic disorder caused by a change in the KCNB1 gene.
Patients have developmental delay starting in infancy or early childhood, often with prominent language impairment.
Most children develop multiple types of seizures that can be frequent and hard to control with standard treatments.
Some children may have features of autism or Rett syndrome or have a diagnosis of Lennox-Gastaut syndrome.
Lansbury Bridge pupil Amelia is non-verbal and cannot understand Makaton sign language, however with her loving parents Marie and Darren by her side "her smiles light up the room".
Her proud mum Marie Garnett, 48, said: “I had a normal pregnancy after we struggled to conceive.
“I actually was diagnosed after having Amelia with a brain tumour, but I didn’t know I had it before having her and during pregnancy all my headaches went away.
“She was measuring very big so I was induced and it led to a c-section and she was born weighing 10lb 3oz.
“We didn’t think anything of it afterwards and once she was born I had treatment and my husband was amazing caring for her for weeks with family while I was in Walton Hospital.
“When I was home and recovered a bit I started to realise she wasn’t hitting milestones like others her age were.
“I mentioned this to doctors but they said children progress differently, I thought maybe because she had had to take a back seat while I was getting treatment that maybe she was just a bit slow in picking things up – but she didn’t catch up.”
Marie and Darren constantly sought more opinions on Amelia, who in her own way is an incredibly happy and content little girl, but they also wanted answers.
Eventually after years of searching and hospital stays once she started having seizures at the age of four, the family were referred to Liverpool Women’s Hospital for genome testing.
Marie added: “All we knew is that she was developmentally delayed and suffered from epilieptic-type symptoms, we didn’t know why.
“We were referred to the women's [hospital] for genetic testing but in Covid they stopped doing tests and we were devastated. Luckily for us each geneticist could choose one case to follow through to test – as these take 12 months in some cases – and ours chose Amelia.
“In December 2023 we finally got a diagnosis, KCNB1 and at the last count only 150 people are diagnosed with it in the world and it’s a spectrum disorder with symptoms being slight or advanced and varying from each person.
“I’m a silver linings person, I try to see the positive in everything and I’m so grateful for Amelia and how much her smile lights up every room she is in.
“My hope is to share her story so if maybe anyone has a child or they themselves have symptoms and there is no immediate answer just keep trying.
“There is no treatment for what Amelia has, we are learning as we go. In Amelia epileptic medication makes her more confused, she has lost the ability to say ‘hiya’ and ‘yeh’ because of it but now we know that in Amelia’s case that doesn’t work and she functions better and has less symptoms on a ketogenic diet.”
Amelia recently had surgery to install a vagus nerve simulator in December. This aims to reduce and aid with the strength of her seizures – of which she has numerous to different strengths each day – and has a magnet a caregiver always has on them which sends messages to the machine if she starts having a seizure.
Marie adds: “Without more research into rare disorders and talking about them, there would be no answers like the treatment she just had, research is the most important thing so people don’t feel so alone.
“Amelia is one of only 150 people in the whole world with KCNB1, so our support network is limited from people who directly understand but we have so much support from Epilepsy Whiston and other charities who can help with one part of what makes Amelia, Amelia.
“People say, oh how unlucky, but I don’t see it that way. We are a medically complex family. But we have a happy daughter and thanks to medicine and having a shunt fitted I’m still here.
“I think it’s important to show other SEND families that different doesn’t have to mean bad or negative, different can be happy and amazing and we have a happy and amazing daughter.”
To learn more about KCNB1 go to rarediseases.org/rare-diseases/kcnb1-encephalopathy
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