‘No, it’s not my fault’: What it was like for me to be a teenager
A teenaged girl who was diagnosed with a rare genetic disorder and whose family feared she would die before she was able to walk has told her story of being shunned by her peers and her parents.
Emily Lefroy-Jones, 16, suffered a stroke while attending a private school in her hometown of Oxfordshire in the UK in 2014.
In the weeks that followed she developed a rare condition called non-feasibility of a skeletal growth, a condition in which bone and cartilage don’t grow properly.
Doctors said it was likely she would never walk again, but Emily’s parents thought that was a possibility and she was told it was something they could manage.
Emily was then taken to the Royal Victoria Infirmary in London for tests, which revealed she had a rare mutation in the genes for the protein bone growth factor, or BGF.
She also had mutations in the protein that is found in connective tissue, called myelosuppresorption, which means she had trouble getting enough oxygen to her body and was also more susceptible to infection.
Her condition required surgery to remove the bone growths, and a number of other surgeries to get her back to normal.
But her parents feared that her condition would be fatal.
So they contacted the NHS to find out more about BGF and the BGF mutation, which is found only in certain breeds of dog.
Emily and her mother, Emma, have since started a fundraising page on the GoFundMe website, which has raised more than £50,000 to help fund Emily’s medical treatment.
They say they are also hoping to raise enough money to start a new school in Emily’s home town of Oxford, so she can be treated there as well.
“I think it’s an amazing story, but it’s very difficult because we were told she wouldn’t walk,” Emma said.
“My husband and I were so scared that she might not walk.
“It’s been incredibly hard and scary. “
We’ve been told that the NHS would never treat her. “
It’s been incredibly hard and scary.
We’ve been told that the NHS would never treat her.
We are just waiting for the NHS here to recognise that she’s a special case.”
Emily’s case is one of more than 2,000 that have been reported in England over the last year, and there is a national awareness campaign to raise awareness about the BFG mutation.
BGF is one genetic mutation that is common in dogs, but its causes are not known.
The BGF protein is found mainly in connectives like cartilage and tendons, and it helps maintain the integrity of joints.
But it also plays a role in the development of new bone growth in bones.
“There’s a big debate about the exact role of BGF in the bone,” said Dr Sarah Egan from the University of Oxford’s Institute of Veterinary Medicine.
“Some people think that it’s just an accessory protein and some people think it could be a cause of osteoporosis, and some scientists think it can actually be protective.”
She added that many breeds of dogs are affected by BGF mutations.
“BGF has been found to be linked to some rare diseases such as osteoporoarthritis of the hip, osteoporosophageal reflux disease (OSDD) in the canine pelvis, osteomyelitis, and osteomyositis,” she said.
Emily’s mother Emma said she was initially “surprised” when she first discovered the mutation, but she has since become more supportive.
“When I saw it on the news it was absolutely shocking, and we were terrified that she would be so unlucky,” she told the BBC.
“After we discovered it we started to think that we could help Emily, because we have this genetic disorder. “
“That’s what we wanted to do with it, to help Emily.” “
Emily said that while she has experienced discrimination in school and at home, it was the support of her family that has made her feel safer. “
That’s what we wanted to do with it, to help Emily.”
Emily said that while she has experienced discrimination in school and at home, it was the support of her family that has made her feel safer.
“To know that my mum and dad are supportive and understanding is amazing,” she added.
“The support that they give is really important.”
Emily, who has a brother, sister and step-sister, has now started a GoFundME page to raise funds to help her with her treatment and also to help with her education.
“Emily is the most amazing person,” Emma added.