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Daily Mirror
Daily Mirror
Shawaz Ahmad

Mum-of-two's fear as nine-month-old handed rare diagnosis - ‘only known case in world’

A mum has shared her fear after her nine-month-old was handed a rare diagnosis with him being "only child in the world" with condition.

Clare Done is mum of son Buddy, who was aged just nine-months-old when she noticed her son was failing to reach milestones including sitting up by himself.

But nothing could prepare the 33-year-old mum for what was to come when Buddy was taken to hospital for a check and MRI scan.

The results showed that Buddy had a cyst on his brain and also had a very rare chromosome abnormality.

Buddy’s disorder is so rare, doctors believe he may be the only known case in the world, Manchester Evening News reports.

Clare, from Little Hulton in Salford, said: “I know you get people saying, ‘Stop comparing your child to other children,’ and I get that to a certain extent, but I wouldn’t be doing my job if I didn’t raise concerns.

Mum, Clare Done with Buddy when he was just nine-months-old (MEN MEDIA)

“When they put Buddy’s chromosome abnormality in the system, nothing came up. There’s no research or information on it."

She added: “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 chromosome anomaly is a change to a child's DNA or genetic material, such as extra or missing chromosomes, which alters the development of a child before birth.

Buddy, now aged three, has made many hospital visits and was also diagnosed with global development delay.

This means that Buddy may take longer to reach milestones compared to other children such as walking, talking and moving.

It is not known whether the cyst caused the developmental delay.

Doctors have warned that if Buddy’s cyst remains untreated, he may begin suffering from seizures in the future.

Clare said: ‘Sometimes I just wish they knew what was wrong.

“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.”

It's not known whether Buddy will be able to walk normally (MEN MEDIA)
Buddy was diagnosed with chromosome abnormality and global developmental delay (MEN MEDIA)

Clare added Buddy is a “happy, cheeky little boy”.

He is currently unable to walk properly, struggles making decisions and is easily overwhelmed.

Sadly, it is unknown whether he will ever be able to walk unaided.

Clare said: “There could be so many different reasons why he isn’t walking and this is the most frustrating part”.

“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."

The mum-of-two 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.”

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