Parent’s appeal to help toddler with rare blood disorder

The family of a toddler with a condition which affects the DNA in his red blood cells are supporting an NHS appeal.

Woody Mayers, aged 22 months, has the extremely rare genetic condition Congenital Dyserythropoietic Anaemia (CDA) Type 1, which is estimated to affect around 1 to 5 out of every million babies. The DNA within his red blood cells is disordered and the cells don't fully mature.

Patients with CDA have low haemoglobin levels, which means Woody needs to have blood transfusions every 4 weeks to stay alive.

Woody’s blood transfusions need to be carefully matched to help reduce the chances he develops antibodies against blood types, which would make it harder to transfuse him in the future. Antibodies can cause reactions which may be severe.

The new blood group testing programme

Woody’s family are now supporting an appeal for all patients with similar rare conditions to get the new NHS genetic extended blood group testing performed.

The test uses genetics to identify more of the rarer blood groups, known as extended blood groups. These blood groups are less well-known than ABO and Rh, but for people with inherited anaemias they also need to be matched to prevent antibody development.

There are around 300 people with transfusion-dependent rare inherited anaemias who are eligible for the new test, which tests the patient’s DNA to find out their blood types. Additionally, all people with sickle cell disorder and thalassaemia are eligible, whether they are transfusion-dependent or not.

This is the first time a blood group genotyping test has been offered to a whole patient group. The genotyping testing programme is a partnership between NHS Blood and Transplant and NHS England. Samples are taken at routine hospital appointments and tested at NHSBT’s molecular diagnostics laboratory in Bristol. The testing machine was developed by the Blood transfusion Genomics Consortium.

Mum Polly, 35, from Robertsbridge in East Sussex, said: "Woody has been on the chronic transfusion pathway for more than a year.

"He produces his own red blood cells but they do not mature. He’s completely reliant on blood donors. Every four weeks he gets about 140mls of red blood cells to boost his haemoglobin.

"Woody will need the blood to be well-matched so that his transfusions don’t become too difficult or risky. The test will help him and anyone else with a similar condition. I hope everyone eligible gets it."

Woody's story

Concerns about Woody’s health began before birth, with 20-week prenatal scans showing abnormal development. He was born prematurely at 34 weeks with haemoglobin levels around a quarter of what they should have been.

This condition means that his chromosomes are not organised within the nucleus of his cells. The chromosomes contain all of the DNA in a cell and when disorganised, the cells don't develop and divide properly. This means that Woody’s immature red blood cells either die in the bone marrow or don’t survive for very long.

Polly said: "When he was born, he was very poorly and pale. He didn’t cry for a few minutes. He needed ventilation breaths. It was really frightening.

"The first few days were very critical for Woody. He was extremely unwell. Nobody knew the cause for his haemolytic anaemia."

Despite everything, Woody is a happy, energetic toddler who loves going to the park, swings and riding his bike.

His resilience is remarkable, and he continues to thrive under the care of Conquest Hospital in East Sussex, with further care from specialists at the John Radcliffe Hospital in Oxford, and at the Evelina and Great Ormond Street hospitals in London.

Woody’s family are also urging people to donate blood.

"There’s no way to sugar-coat it – if it wasn’t for blood donors, Woody would not be alive," said Polly. "I’m incredibly grateful to blood donors for ensuring blood is available when he needs it."

Polly, a community matron who enjoys gardening, and husband Matt, 42, a carpenter who enjoys motorbiking, also have two girls, aged 4 and 7.

Kate Downes, Head of Genomics at NHS Blood and Transplant, said: "The new genotyping test can test blood groups faster and more extensively than standard testing methods. This enables comprehensive testing to be rolled out for people with sickle cell, thalassaemia, and transfusion-dependent rare inherited anaemias.

"Woody has very rare disorder and he relies on blood transfusions to stay alive but these need to be well matched. We want everyone eligible, like Woody, to be tested so they can get better matched blood. We also need more people to donate, so we can supply the matched lifesaving blood to Woody and people like him."

Find out more about the patient genotyping programme on our website.

Register as a blood donor at blood.co.uk or via the NHS Give Blood app.