CMFT researchers, patients and medical staff show their support to Rare Disease Day 2016

Rare Disease Day 2016 is taking place across the world on Monday 29 February, with Central Manchester University Hospitals NHS Foundation Trust (CMFT) raising awareness of the important research currently underway across a wide range of rare diseases.

A disease or disorder is defined as rare in Europe when it affects less than 1 in 2000 people; in the EU, as many as 30 million people alone may be affected by one.

This year’s theme ‘Patient Voice’ recognises the crucial role that patients play in voicing their needs and in instigating change that improves their lives and the lives of their families and carers.

Throughout the month, we’ll be sharing our own patients’ stories to showcase how CMFT and our NIHR / Wellcome Trust Manchester Clinical Research Facility (CRF) play a vital role in research and delivering new treatments and diagnosis for rare conditions.

Meet some of our patients:

  • Ava was one of just two children in Great Britain to have an extremely rare metabolic disease, which meant she was missing an enzyme. Her parents, Aoife and David, were told she had just weeks to live. Find out how taking part in study at the CRF helped her.
  • George was the youngest child in the UK to be part of a research study trialling eltrombopag after he was diagnosed with immune thrombocytopenia (ITP), a rare blood disorder that can cause severe bleeding. Find out how he got on here. 
  • The Royal Manchester Children’s Hospital diagnosed Hooriya with the rare and sometimes fatal genetic disease, Hypophosphatasia (HPP). She was given a new treatment, asfotase alfa, which had shown positive results in early clinical research studies and her mum, Rehna says: “Hooriya wouldn’t be here if she hadn’t had the treatment.” You can read more about her by clicking here.

Stay tuned to our social media pages (CMFT Facebook and R&I Twitter) throughout the month as we share information about our rare disease research and more stories of patients who have benefitted from research across CMFT, the CRF and our partner organisations.