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CamRARE endorses the importance of understanding the diagnostic odyssey for Rare Disease Day
Understanding the challenges facing families seeking diagnosis for a rare condition, often called the diagnostic odyssey is crucial says CamRARE, the Cambridge Rare Disease Network. A diagnostic odyssey is described as the time taken between when a symptom or feature...
Challenges facing families after a rare disease diagnosis
Cambridge Rare Disease Network talks to Karen Whitehead about the challenges of parenting, living and working with a rare disease diagnosis within the family. Kate Whitehead was 28 when she was told that she had Pregnancy Associated Osteoporosis which is a very rare...
Living with a very rare bone condition
Pregnancy is normally a time of excitement for mums to be. But for some, it is a catastrophic event due to a rare condition called pregnancy-associated osteoporosis (PAO). As Karen Whitehead, herself felt. ‘27 years ago, I was about to have my first baby. My husband...
Destroy mutant mitochondrial DNA with MRC-MBU at RAREfest22
The strategic mission of the MBU is to understand mitochondrial biology in health and disease, and to exploit this understanding to develop new therapies and improve human health. Alex Whitworth is a Group Leader at the Medical Research Council Mitochondrial Biology...
Rare Youth Revolution at RAREfest22
Chelsea Wong is the Youth Coordinator for Rare Youth Revolution (RYR). Rare Youth Revolution is a global news and opinion, digital magazine platform, dedicated to powering up the voices of the young people in the rare disease community. They aim to bring quality news,...
Finding a needle in a haystack
Dr Kate Downes is the Clinical Scientist Lead for the East Genomic Laboratory Hub. Genomic medicine is a rapidly growing and dynamic field, and we are increasingly findingmore answers to help us provide more results to patients and their families. The East Genomic...
Launching ‘Days of Rare’ photography exhibition at RAREfest22
Same but Different was born out of Ceridwen’s experience of having a child with a rare disease. Combining her passion for photography and her considerable knowledge in marketing Same but Different was established in 2015. The Real You Focussing on the positive and...
Dr Richard Gorman – animating the world of rare diseases
Dr RIchard Gorman is animating the world of rare disease to help people with rare conditions get their voices heard.
Sensmart – providing multi-sensory solutions
Aisha Purvis has spent over ten years helping others in the health and social care sector. She has witnessed first-hand the multi-faceted challenges patients faced regarding malnutrition and dehydration.
Rishi Nag – combining passions to showcase science
Rishi Nag cumulated his passions for science, music, and learning to create Singing Science. His dynamic project combines shows and songs, putting science’s presence into the wrapping paper of music and the visual arts.
Unique Feet Outdoors
Jo Balfour is a founding member and Managing Director at CamRARE, who also founded the Unique Feet group. She got in touch with the Alpkit Foundation after support as they transitioned out of the long series of lockdowns. It was an incredibly important time in being able to get people back together who had been shielding for so long, looking to get the children enjoying the outdoors again and the benefits taking part in these activities brings.
Report Launch Feb 2022: Improving transitions to adult care for young people living with a rare disease
Costello Medical, Cambridge Rare Disease Network and Beacon launched a new report in March 2022 exploring the transitions process for young people living with rare conditions. In recent years, advances in the diagnosis and treatment of rare diseases have led to...