UCL Great Ormond Street Institute of Child Health has responded to the considerable anxiety and confusion among many people living with rare diseases about their level of risk from COVID-19 and the precautions they should take. For patients A team of clinical genetics doctors working in collaboration with the British Society for Genetic Medicine, the Clinical Genetics Society and Aimes (a healthcare IT […]
We’re working with UCL to find someone to help develop a patient registry for BBS UCL are setting up a professional registry for people in the UK with the rare genetic condition Bardet-Biedl syndrome (BBS). There are around 500 people with the condition in the UK and many of them attend the national BBS clinics in London […]
written by Dr Thomas Dunne What is Spinal Muscular Atrophy? Spinal Muscular Atrophy (SMA) is a rare genetic condition that causes progressive weakness and wasting of the muscles. It is a spectrum of conditions most commonly caused by a gene defect on chromosome 5q called the ‘survival motor neuron gene 1’, referred to as ‘SMN1’. […]
Sarah Lippett spent eleven years suffering with symptoms from an unknown condition, until she was diagnosed with the rare disease, Moyamoya, at the age of 17. This November she is launching her beautiful graphic memoir, A Puff of Smoke, which tells her story using the power of the sequential narrative. It took eleven years, my […]
Same But Different is starting the conversation about baby and child death with their newest exhibit ‘30% Project’. It raises awareness of the statistic that 30% of those diagnosed with a rare disease will die before their 5th birthday.
‘The Suspense is Killing Me’ is launched to help find answers for children suffering from rare or undiagnosed diseases.
Project Y’s mission is to find answers for children with rare diseases, helping to find answers for thousands of families who desperately need them. Project Y supports advancing initiatives such as the Undiagnosed Diseases Program, a groundbreaking program bringing together specialist doctors, scientists and technology to solve the most challenging medical mysteries. 500,000 Australian children […]
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The diagnostic odyssey is a term used to describe the long and arduous journey that many rare disease patients find themselves on in pursuit of a diagnosis. The charity, Rare Disease UK, estimate that a patient with a rare disease will wait an average of four years for a diagnosis and be given an average […]
The most common of the Neurofibromatoses, Neurofibromatosis Type 1 (NF1) is a condition that leads to tumors growing on nerves alongside effects on other organs. It affects approximately 1 in 2700 births, and can be due to autosomal dominant inheritance from the parents or new mutations in the gene NF1 in the affected child.
In this article, Sri Rambhatla reflects on one family’s experiences of Kawasaki Disease and reminds us of its clinical presentation, diagnosis and treatment. Srinivasa Rambhatla is an academic foundation doctor working at the Royal Sussex County Hospital, and is an M4RD ambassador. As a medical student/junior doctor, we are often told to remember the adage that […]