Clare Done’s son Buddy was just nine-months-old when alarm bells started to ring. She noticed the tot was failing to reach milestones including sitting up by himself.
But nothing could prepare single mum Clare for what came next. Buddy was taken to hospital for a checks and an MRI scan. Not only did he have a cyst on his brain, he also had a very rare chromosome abnormality. The disorder is so rare that doctors believe Buddy may be only known case in the world.
“I know you get people saying, ‘Stop comparing your child to other children,’ and I get that to a certain extent,” mum-of-two Clare, from the Little Hulton area of Salford , told the Manchester Evening News . “But I wouldn’t be doing my job if I didn’t raise concerns.
“When they put Buddy’s chromosome abnormality in the system, nothing came up. There’s no research of information on it.
“I asked them if he could be the only child in the world with this chromosome abnormality and they said yes. My head totally fell off. It was a horrible time.”
A chromosomal anomaly is a change to a child’s genetic material or DNA which alters the baby's development before birth. This can include extra, missing or irregular chromosomes.
Following several hospital visits, Buddy, now aged three, was also diagnosed with global developmental delay. It means he may take longer to reach milestones compared to other children such as learning to walk, talk, move and interact. It is not known whether the cyst caused the developmental delay.
Though the cyst will remain untreated, doctors have warned he may begin suffering from seizures in the future. It’s a possibility Clare, 33, tries not to think about. “Sometimes I just wish they knew what was wrong,” the former retail manager said.
“You worry – it's your baby. Anything to do with the brain is scary enough. There are so many chances that cysts could be cancerous, it’s horrible.
“At first, I was a bit blown away. I didn’t know what to do. But it’s just natural for mums, isn’t it? If the day comes that he starts having seizures, then I’ll just have to deal with it.
“I’ve looked into things about what I would need to do in case he did. I used to live my life thinking it could happen today, but now I just don’t so much.”
Buddy is currently unable to walk properly, struggles making decisions and gets easily overwhelmed – but Clare says he’s still a “happy, cheeky little boy”. Sadly, it is unknown whether he will be able to walk unaided.
“There could be so many different reasons why he isn’t walking and this is the most frustrating part,” Clare added. “Sometimes I just wish they knew what was wrong. The most visible thing is that he walks on his knees, and that's what people pick up on.
“On the outside, he looks normal,” Clare added. “No one can really give me the answer on whether he will ever walk properly. His paediatrician said he might, but it’ll be a long time before he does. It’s a waiting game.”
Clare’s family are now trying to raise funds to make her outdoor garden space safe for Buddy to play in once his new walking frame arrives. It’s hoped a newly-paved yard will allow Buddy to walk around easily and spend more time outside.
To donate, follow the link by clicking here.
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