A mum whose daughter has an incredibly rare blood disorder claims her family has been forced to move 200 miles to London to access specialist treatment.
Two-year-old Lilly-anna Myles is one of just 200 people in the UK with Diamond-Blackfan anaemia.
She was diagnosed with the genetic blood disorder when she was just six months old after her mum Franchesca noticed she wasn’t hitting her milestones or gaining weight as she expected.
The type of anaemia affects the ability of the bone marrow to produce red blood cells and means Lilly-anna needs blood transfusions every three weeks, putting the little girl through her several hours in hospital each time.
But Franchesca is now pinning her hopes on a new course of treatment which will give her a better quality of life, but it means moving from Hull to London to be closer to a specialist centre there.
“We are in the process of trying to move from Hull, as moving to London will give her a better life as they are better equipped to deal with the condition there,” she told Hull Live.
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Franchesca, who has another daughter, Poppy-rose, who is seven, said she first noticed something wasn’t right with her baby when she was six months old.
“I already had one healthy child who had hit all her milestones, but Lilly-anna wasn’t.
“I took her to the GP and was told that she had severe anaemia and they noticed she was extremely pale. I hadn’t really noticed that as she’d been very pale from being born.
“They referred us to the hospital that same day and her haemoglobin levels, her red blood cells, were off the scale, they were so low.”
Lilly-anna had an immediate blood transfusion, and underwent two more within days.
Franchesca and her partner, Ashleigh, were told she needed to be referred to Leeds General Infirmary for paediatric specialists there to treat her, and she was was officially diagnosed with the condition.
Now a lively toddler, Lilly-anna is well immediately after her transfusions. But when it gets close to her needing her next one, Franchesca says her energy levels drop, and she becomes groggy and irritable.
The family have been to London for tests to see if she can be be approved for steroid treatment, which should keep her well for longer between transfusions. And they want to make the move permanent.
“There is only one other person with this condition in Hull, whereas St Mary’s Hospital, in Paddington, London, where Lily-anna goes, treats around 20 patients and is therefore able to provide better treatments, more quickly and efficiently.
“We have to travel to London for any major procedures she may need, so we want to move as soon as we can, to provide Lilly-anna with the best life, medically.”
She is currently undergoing tests to check for her suitability for the steroid treatment, and three weeks ago she underwent a host of procedures including MRI, scans and a bone marrow biopsy.
The family are now awaiting the results to see if the steroid treatment can be considered.
Her mum said: “If she has this treatment, there is a 15 per cent chance it will work, and she won’t need transfusions as regularly and be so dependent on them if that’s the case.
“So they’re looking to see if the treatment is compatible with Lilly-anna and if she will tolerate it. For some people the treatment works and for others it doesn’t.
“For others, they have to resort to a bone marrow transplant if the transfusions stop working or the steroids don’t work.
“But that’s very much a last resort and I hope we don’t have to down that route, as it has risks with it. Patients have to undergo chemotherapy first, and then you have to find a bone marrow donor who is a suitable match.
“We are really hoping the steroid treatment will be an option for her.”
Lockdown posed its own challenges for the family, as they were concerned about people not turning up to give blood during recent lockdowns.
“So while everyone has been worrying about Covid, I was worrying about people not turning up for blood donations.
“Lilly-anna relies on blood donations and I would encourage people to keep giving, it’s so important,” said Franchesca.
She said her daughter handles her illness with amazing bravery.
“She is an inspiration, a small fighter. She is the most patient two-year-old, she will just sit there to have her transfusions, she’s amazing.
“For me, it’s a constant worry. I worry about her getting older and not wanting transfusions, I worry about all sorts.
“But she just gets on with it, and you wouldn’t know there was anything wrong with her, to look at her.
“When she had her bone marrow biopsy, she was laughing within an hour, and it’s painful to have. She just goes through everything with a smile on her face.”
- The Diamond Blackfan anaemia charity say the rare bone marrow failure disorder, usually diagnosed before 12 months of age. For more information on the condition click here.