Boy, 2, baffles doctors with condition 'so rare that it can't be diagnosed'

Oaklen Pearce, two, was calved with missing fingers and missing toes connected each 4 of his limbs - his mum says that limb differences usually conscionable impact 1 limb, but each 4 of Oaklen's are affected

A young lad has near aesculapian professionals scratching their heads arsenic they fishy helium has a genetic disorder truthful uncommon it can't beryllium identified.

Oaklen Pearce, 2, was calved with nary fingers and toes connected each 4 limbs. His mum Nicole Pearce, 24, says the household were told the upset tin usually lone interaction 1 limb, but successful Oaklen's case, each 4 are affected. Doctors present judge helium has a uncommon condition, but they deficiency the precocious investigating needed to diagnose him accurately.

Nicole admitted: "They person nary thought to beryllium honest. Normally limb differences impact conscionable 1 limb, but each 4 of his are affected. We are beauteous overmuch successful the dark, I wonderment however it volition impact him aboriginal successful life. I've got questions that can't beryllium answered due to the fact that they don't adjacent cognize what it is."

Nicole, who earns her surviving astatine a garage, had nary inkling astir her son's upset until his birth, arsenic it was overlooked successful each her ultrasound scans. She saod: "I didn't cognize until helium was born, it was someway missed connected each the scans. So connected his near manus he's lone got 2 fingers that are wholly fused together, past he's missing fingers and is missing toes connected his different limbs."

She further added: "The bones are shorter connected the near broadside of his arms and legs and he's got immoderate problems with his hips. It was rather worrying due to the fact that I went done my pregnancy reasoning everything was alright and past I was thrown with this."

After undergoing a C-section with wide anaesthetic, Nicole was fraught with interest erstwhile doctors approached her for a chat, fearing the worst. Oaklen is connected an NHS waiting database for country to abstracted his fused fingers connected his near manus and relies connected peculiar footwear for his unstable ankle. Despite these challenges, Nicole from Crowland, Lincolnshire, beams with pridefulness arsenic she describes him arsenic "the happiest lad." She said: "He's precise astute and he's precise switched connected for a two-year-old."

Nicole admires her son's resilience and humour, adding:"He's a small comedian and doesn't truly fto thing get successful his way. He has to person specializer shoes but nary substance what he's doing, he's ever the happiest lad and ne'er lets thing halt him. If helium wants to bash something, past he's going to effort his hardest to bash it connected his own."

In an effort to enactment others and rise funds, Nicole is gearing up for a skydive successful assistance of the LimbBo Foundation, which assists children with limb differences. Reflecting connected her archetypal feelings of isolation, she said: "You don't truly spot radical with missing limbs, truthful I felt rather isolated with radical who I could talk to. That's erstwhile I travel crossed LimbBo, they specialise with children with differences."

The charity's interaction is clear. She adds: "I'm going to conscionable up with a household done LimbBo, arsenic their lad besides has a limb quality successful his arms - they conscionable bring radical together. It takes each the value disconnected your shoulders and makes you consciousness little alone."