TINY Emily Anthony has made a difference, believes her mum.
Since Emily died aged just a few days old, she has inspired Rachael Fawcett to offer a helping hand to other families who are touched by the genetic condition which led to her baby’s death.
She is determined to raise the profile Non-Ketotic Hyperglycinemia, which affected her daughter. It is a rare genetic disorder that affects just one in every 60,000 infants,
Rachael knew very little of the condition and because it is so rare, there wasn’t much information available or even a UK group to contact for moral support.
After Emily’s death, she set up a group herself through Facebook - called NKHUK. In just two weeks, she had linked up with 200 people from all over the world to share experiences and support each other emotionally.
Rachael has also raised £1,052 for the Neonatal Unit at Doncaster Royal Infirmary, as well as money for Sheffield Children’s Hospital and CLIMB, a charity for Children Living with Inherited Metabolic Disease, to thank the organisations which helped her at a difficult time.
Rachael said: “I think Emily came to us for a reason, and I think that may be to help people through what we had to go through. We felt we had no one to turn to in terms of finding help. I hope we are helping provide that help.
“She has helped so many people. We share stories and we have members as far away as New Zealand.
“Me and my partner both carried the gene and that is why Emily was affected the way she was. We don’t know how many others out there carry it.
“The symptoms are refusing to feed, breathing problems and floppiness. I think there may be children who die from it who are not diagnosed.”
She says some people are more seriously affected by the, condition, where body cannot break down a chemical called glycine, than others, and there are people living with it.
She has created a garden in memory of Emily.
Doctors at Doncaster Royal Infirmary have paid tribute to Rachael’s charity work since she lost her daughter.
Dr Nigel Brooke, consultant paediatrician at Doncaster and Bassetlaw Hospitals NHS Foundation Trust, said: “Rachael is a remarkable lady.
“To learn that your baby has an incurable genetic disorder is devastating news for any parent.
“Rachael’s strength of character and determination has pulled her through this very challenging time.”