DBA UK provides support and information for those with the rare genetic blood condition Diamond Blackfan Anaemia (DBA), and their families.
Pictures from DBA UK’s family conference. The rights to these images are owned by DBA UK. Title image shows Ruby at the family conference.
Diamond Blackfan anaemia is a rare blood condition, in which the bone marrow fails to produce enough red blood cells, leading to severe anaemia. Symptoms include extreme fatigue, a pale complexion, lack of appetite and poor growth. Affecting an estimated 350 people in the UK (1500 worldwide), approximately 80% of DBA cases are caused by a genetic change. The two main treatments are corticosteroid medication (which are not always successful) and regular blood transfusions. Transfusions carry a risk of excess iron build-up in the body, which can be fatal.
Coping with regular blood transfusions, MRI scans to monitor iron build-up in the organs and managing tiredness is challenging for families. Living with a rare genetic condition can also be isolating. This is where the charity DBA UK comes in – supporting families through the difficult stage of diagnosis, to treatment plans and medical options, management at school and beyond and connecting families together.
Our fundraising at Jeans for Genes means we can provide a grant to DBA UK to help families where they need it most. It really makes a difference to the lives of children like 11-year-old Ruby Hubbard and her mum Joanne.
Ruby was diagnosed with DBA when she was just five weeks old, after becoming unwell, pale and with a row of bruises under her eyes. So rare is the condition that doctors initially diagnosed reflux. It was thanks to Joanne’s sister-in-law – a paediatric nurse – who noticed signs of a poor blood flow in Ruby’s nailbeds, that the hospital ran blood tests and found her haemoglobin levels were extremely low.
“Straight away Ruby had two blood transfusions,” Joanne, 53, a hairdresser from Redcar, says. “Then a bone marrow biopsy confirmed she had DBA. This rare genetic condition is caused, in Ruby’s case, by changes in the RPS19 gene and means she doesn’t make enough red blood cells to live. The doctors told my husband Paul and I that they couldn’t cure it, but it could be treated with regular blood transfusions.
“We found the charity early on when we were working out what life our daughter would have. There was a lot of information to take in, we didn’t know where to start. Contacting DBA UK made us feel a lot less isolated. We attended our first annual family conference when Ruby was five months old. At the conference you have the opportunity to speak to specialist nurses, consultants from London and other families who shared their valuable experiences.”
Joanne adds: “We have been attending the conference for 11 years and we always find it so informative and supportive. Now when we go to the conference we benefit from information on puberty, nutrition, and can have one to one drop-in sessions with the experts. The charity has a helpline and a Facebook group. It all gives you hope. It’s just comforting to know you’re not alone.”
Steroid treatment is commonly used to treat DBA, and a trial usually starts when children are around the age of two, but for Ruby it wasn’t successful. She has blood transfusions every four weeks. To date she has had 153 blood transfusions. She takes daily medication to counter the toxic effects of iron. In between transfusions she has MRI scans to monitor levels of iron in her heart and liver.
Joanne says: “The first ten days after her blood transfusion, Ruby feels like she is on top of a rollercoaster. Ten days later her energy levels start to drop. Our approach is for Ruby to lead the best life she can lead. She dances, plays netball, she has a normal school life.”
The charity DBA UK provided information for Joanne on treatment options, giving her the tools to make informed choices about treatment. Thanks to a Jeans for Genes grant, the charity was able to source a graphic designer to produce medically checked patient information leaflets to be distributed in hospitals, to patients and available digitally online.
“We found that because the disease is so rare, there was no information out there for the public,” says Leisa Batkin, Chair of Trustees at DBA UK. “Patients were consenting to things they didn’t understand. Parents have to be their child’s advocate and that can be exhausting. We felt we needed to step in and inform patients.
“Thanks to the digital information, families are asking more questions at their appointments. For example, we advised one family that their child wasn’t getting the correct amount of blood. The mum was able to take one of our leaflets to show to the doctor and requested the correct level in her child’s care plan. That would never have happened if we hadn’t produced the leaflet and that is thanks to Jeans for Genes. It’s absolutely brilliant.”
Leisa adds: “DBA is not a life sentence anymore. It is 100% about quality of life. You can live a good life, with proper management and we want to help families be able to do that.”