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Hands holding a painted heart ornament

Dr. Katrina Fordwor (Higgs Lab) and Dr. Noémi Roy (Associate Professor of Haematology, Radcliffe Department of Medicine) write about their recent participation in Patient and Public Involvement events for patients with rare congenital anaemias.

Congenital rare anaemias affect < 5/10,000 people in the general UK population. In recent months we have run two Patient and Public Involvement events (PPI) in conjunction with local charity the Congenital Anaemia Network, to bring together patients with rare anaemias, provide a forum to discuss the research being undertaken in this area, and enable clinicians and scientists to learn more about patients’ research priorities.

The first of these events was a weekend conference for patients with congenital dyserythropoietic anaemia-1 (CDA-I) and their families. CDA-I is a rare congenital anaemia caused by biallelic mutations in the CDAN1 or CDIN1 genes; however, the molecular function of these mutations is unclear. In the UK, a CDA-I diagnosis relies on testing via a rare anaemia panel and, whilst this is often helpful, the treatment options available remain poor. 

The conference, which happened in Leeds, brought together CDA-I patients and their families from all over the country, many of whom had never met anyone else with the same condition as them before. Throughout the weekend, people were able to share and reflect on their experiences of living with CDA-I. They were also able to learn about current research into CDA-1 through presentations given by Dr Noémi Roy and Dr Caroline Scott from the MRC WIMM, along with Professor Theodosia Kalfa (Cincinnati Children’s Hospital, USA), Dr Paola Bianchi (Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico of Milan, Italy) and Dr Roberta Russo (University of Naples Federico II, Italy). 

Over the course of the weekend, it became clear that the patients’ main research priorities were:

  • Understanding if their other ailments are related to their CDA-I
  • Identifying alternative treatments to interferon-alpha (a current treatment with a multitude of side effects)
  • Development of a registry including UK patients to better inform clinicians and scientists about the natural disease progression of the condition 

Whilst CDA-I patients were part of the 2018 James Lind Alliance Priority Setting Partnership in rare inherited anaemias, the priorities chosen were not specific to their condition. Gathering those with lived experience of CDA-I together, allowed them to refine those priorities further. These will be fed back into the research we are conducting here in Oxford.  

We later ran a further PPI event in the form of a summer party to bring the wider Oxford rare anaemia community together, providing an occasion for families to network with each other and with medical professionals. 150 people attended, some for the first time and others for the 7th year running.   This year, it also allowed University of Oxford medical student Victor Popoola to trial conducting qualitative research in a non-healthcare setting to see if this altered engagement. 

Coloured balloons tied to a branch in a sunny wooded area.

Attendees at the summer party said that the event enabled them to connect with others in a similar situation and helped them to feel less isolated. One attendee commented, “Being around people that go through what I and my brother are going through makes us have a sense of belonging, a family that we can share our story with.”

Both of these events really showed the value of PPI; how it can bring people together, build a sense of community and encourage collaboration between patients and medical professionals to improve the quality of research conducted.