This boy’s disorder is too rare to diagnose

By Izzy Hawksworth via SWNS

A young boy has baffled doctors as they think he's got a genetic disorder that's so rare it can't be diagnosed.

Oaklen Pearce, two, was born with missing fingers and missing toes on all four of his limbs.

His mum Nicole Pearce, 24, says that limb differences normally just affect one limb, but all four of Oaklen's are affected.

Because of this, doctors think he's got a genetic condition but they don't have the advance testing to diagnose him to find out what it actually is.

Nicole said: "They have no idea to be honest.

"Normally limb differences affect just one limb, but all four of his are affected.

"We are pretty much in the dark, I wonder if how it will affect him later in life.

"I've got questions that can't be answered because they don't even know what it is."

Nicole, who works at a garage, says she didn't know about her son's disorder until he was born, as it was missed on all of her ultrasounds.

She said: "I didn't know until he was born, it was somehow missed on all the scans.

"So on his left hand he's only got two fingers that are completely fused together, then he's missing fingers and is missing toes on his other limbs.

"The bones are shorter on the left side of his arms and legs and he's got some problems with his hips.

"It was quite worrying because I went through my pregnancy thinking everything was alright and then I was thrown with this.

"I had a c-section with general anesthetic so when the doctors wanted to speak to me, I thought the worst."

Oaklen is currently waiting for to surgery to separate his fingers that are fused together on his left hand.

He also wears specialist shoes to support his unstable ankle, but Nicole, of Crowland, Lincs., says he's "the happiest lad."

She said: "He's very smart and he's very switched on for a two-year-old.

"He's a little comedian and doesn't really let anything get in his way.

"He has to have specialist shoes but no matter what he's doing, he's always the happiest lad and never lets anything stop him.

"If he wants to do something, then he's going to try his hardest to do it on his own."

Nicole is planning on doing a skydive to raise money for charity LimbBo Foundation, who support children who have limb differences.

She said: "You don't really see people with missing limbs, so I felt quite isolated with people who I could speak to.

"That's when I come across LimbBo, they specialize with children with differences.

"I'm going to meet up with a family through LimbBo, as their son also has a limb difference in his arms - they just bring people together.

"It takes all the weight off your shoulders and makes you feel less alone."

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