Psuedoachondroplasia - Dwarfism
The average ten year old girl is around four feet six inches tall. Danielle Griffin stands at just two foot eleven inches; the size of a typical two year old. The maximum she can expect to reach is only three feet ten inches. As an adult, Danielle will live her life at the size of a six year old.
She suffers from an extremely rare form of dwarfism which affects only four in a million; Psuedoachondroplasia.
Professor Dattani a Paediatric Endocrinologist explains "Psuedoachondroplasia is an extremely unusual condition, more unusual than achondroplasia which is the form of dwarfism we see more often. It is a condition whereby the bones have formed badly during development. Unfortunately, medical science has very little to offer in terms of actual treatment although we can be supportive and offer physiotherapy".
When Danielle was born she was a healthy 7lb 2oz and a normal 20 inches long. People with psuedoachondroplasia develop in the womb as normal foetuses and, at birth, their appearance is that of a typical healthy baby.
The average baby skeleton develops at a steady rate, with the limbs and trunk in proportion to each other. A baby with psuedoachondroplasia develops at the normal rate until around the age of two, at which point their growth rate slows down. In particular, their arms and legs grow out of proportion to the trunk. Danielle stared to drop off the height charts when she was just eleven months old.
Danielle's diagnosis was a shock to her parents as there was no genetic history of short stature in either family.
Professor Dattani tells us "It occurs out of the blue and affects the child because there's a change in a single gene. Quite possibly the parents did not carry the gene at all".
At school, Danielle tries to get involved in all the things her friends do. The usual schoolgirl activities like netball, hockey and rounders are out of the question, so the choir is where she lets off steam. Danielle's size dictates that she can't get involved in many sports. The length of her limbs means she can't run or walk as fast as her friends, but swimming is one thing she loves to do.
Psuedoachondroplasia doesn't just affect the growth of the skeleton, the condition also affects the joints.
Miss Eastwood her Paediatric Orthopaedic Surgeon explains " She has very loose ligaments in almost all of her joints. It's particularly noticeable in her wrists which go all over the place. It's also very obvious in her foot and ankle. In some ways, Danielle's body is behaving like that of a toddler. She's got the normal amount of muscle tissue that a ten year old should have, but instead of being spread across a ten year old's bone length it's spread along a four year old's bone length so it appears chubby".
Her condition is not simply about size. Her bones and joints cause her severe pain on a daily basis. Her ligaments are so loose she's tending to strain her joints more than most people are.
One of the symptoms of psuedoachondroplasia is bowing of the lower legs. This can be improved with orthopaedic surgery, in which the bones are broken and straightened. Danielle had the surgery at the age of three, but the results weren't as successful as she'd hoped.
Danielle has now decided she wants the surgery again in the hope of getting straighter legs and gaining valuable centimetres in height. She travelled to London to ask her surgeon Miss Eastwood if she can have the surgery a second time. Before making a decision, Miss Eastwood needs to look at Danielle's latest X-Rays.
She reports "Technically, the operation has been successful in that the bones that we broke are still straight. I think that proves that the problems with Danielle are more than just the curvature of the bones, it's the looseness of her joints that is causing all her aches and pains". So, unfortunately the decision on whether Danielle can have the second surgery doesn't go the way Danielle had hoped.
For the first nine years of her life, Danielle believed that she was the only small person in the world, but last year she and her family went to a restricted growth convention where a whole new world astonished her. She met ten year old Jodie who shares her condition and Lauren who has the slightly less uncommon achondroplasia.
The above information came from the UK Channel 5 "Extraordinary People" documentary series.