Mum running London Marathon to back Freya Foundation which supports children with rare genetic condition PDH deficiency
THEY were tiny movements, almost imperceptible. “Like she was doing little circles with her arms,” is how mum Hannah Murphy describes what her then week-old baby daughter Molly was doing.
She adds: “It was so subtle my midwife thought there was nothing wrong.”
But Hannah’s instinct told her differently. “Molly was born in May 2020 weighing 6lbs 6oz and as far as we were aware, healthy.
“But she did have problems breast feeding, and coupled with the strange movements I saw that day I just felt something wasn’t right.”
She went to Southampton hospital’s neo natal department with husband Chris, and as they were waiting a consultant spotted Molly and whisked her away.
“He literally just grabbed her and ran off with her,” said Hannah. “He just knew from looking at her that she was very unwell. I will be eternally grateful he came along because I really feel he saved her life.”
In fact, the tiny movements Molly had been making were her having seizures. She was taken to ICU and put into an induced coma.
Extensive testing eventually led to Molly being given a diagnosis of PDH deficiency – an incredibly rare genetic condition which causes a life-threatening build-up of lactic acid in the body.
This leads to neurological problems and delayed development of mental and physical abilities.
“There are only 30-50 cases in the UK,” said Hannah. “We were given a very poor prognosis that Molly would probably never walk or talk, and have a very short life.
“We felt so helpless. We were just told she had this life-limiting, horrendous condition and sent away with very little support.”
It was while researching PDH online that Hannah came across the Freya Foundation – a small charity which helps families with children who have the condition.
She said: “Freya’s mum Kelly spoke to me for ages on the phone. She gave us such hope. Like Molly in the beginning, Freya was given a very poor prognosis but she has done so well.
“She goes to school and even went to Brownies and now goes to the Guides and swims.”
“Kelly arranged counselling for us, and through the foundation we have found other families in the same position as us. The charity has given us the support we never had.”
Hannah will be running the TCS London Marathon on 21st April to raise money for the charity, which also funds research into PDH including a project hoping to develop gene therapy for it.
She said: “I have found it so isolating having Molly. I went to Natural Childbirth Trust classes when I was pregnant and made friends with other mums.
“But the year after Molly was diagnosed it became really difficult meeting them because all of their babies were thrashing their milestones.
“It’s like me and Chris are in a club of our own, which is why the Freya Foundation are so fantastic - there is always someone you can talk to who really understands.”
Molly will be four in May, and is doing really well, says Hannah.
“She goes to a local childminder and loves being with other children,” she said. “She’s a very smiley, cheeky and sociable and loves cuddles, music, dancing and the water, she’s a complete thrill seeker and has been surfing, paddle boarding, sledging and go-karting!
“She will be starting at Forest Park special school in September, which I never imagined in a million years she would be able to do.”
Hannah has a JustGiving page for her London Marathon event at bit.ly/4algz1q
For more information on PDH visit www.thefreyafoundation.co.uk/
