Days of RARE gallery spotlight

Days of RARE

EXPECT THE UNEXPECTED

VISIT THE EXHIBITION ONLINE

We wanted to create something that encouraged people to want to know more and to find out about the people involved and their conditions. We built a ‘Rare room’ in our studio and each scene was created around the individual and their condition. If you look carefully there are different elements which relate to the rare disease included within the images, each carefully chosen and curated to encourage curiosity.

CERIDWEN HUGHES In September 2022 we will officially launch Days of Rare, a photographic exhibition that is supported by film, audio and written narratives. It has been created to inspire us to look more deeply into a life lived with a rare disease. Each image is carefully designed to include unique elements that relate to the rare disease and its impact on the lives of those who have the condition. The videos, podcasts and written accounts allow us to delve deeper into the images, and to understand the daily reality of those living with some of the world’s rarest conditions. Our innovative and immersive exhibition is being launched at the Connect in Pharma exhibition in Geneva, followed by the online exhbition and additional 'in person' exhibitions.

Tony Esmond

Alkaptonuria (AKU) In July 2011, at the age of 53, Tony was diagnosed with Alkaptonuria, also known as Black Bone Disease. Living with AKU has been a challenge at times for Tony. Over the years his symptoms got significantly worse making it difficult to cope, both at work and at home. The main symptoms he had to contend with were pain, increasing mobility issues, lifting issues, difficulty breathing and extreme exhaustion. A newly available medication has made a marked difference in Tony’s life, finally allowing him to do things once more that he had feared he might never be able to do again. “I think it is important for people to know they can fight for things, and what this can do for them and other AKU patients.”

Bonnie Taylor

Haemophilia A Severe Bonnie lives with Haemophilia A Severe, an extremely rare condition with only approximately 6000 people in the UK affected. It is rarer still in Bonnie’s case as she is a female, and the condition typically affects males. In the main females are generally carriers, or have a milder type of bleeding disorder. To date, Bonnie has not met another female with her condition in the UK. The impact of Bonnie’s condition on her life is huge, but carefully planning her life around her condition allows her to control as much as possible and helps her navigate and balance her family life. “I want to try and live my life the way I want to live it.”

Kelsie and Shona

Niemann-Pick C disease (NPC)

Helen and Callum have three daughters, Shona, Kelsie and Tally. They are a loving, close-knit family whose lives were changed forever when Shona, and then Kelsie received a diagnosis for Niemann-Pick Disease Type C (NPC). Whilst Tally does not have NPC she is a carrier, which has the potential to impact on any children she might one day chose to have.

Kelsie was diagnosed when she was 16 years old, a few years after her sister Shona’s diagnosis. For Kelsie her diagnosis is something that she tries to just get on with, and it is not something that she wants to define her, or who she is. Instead she hopes that if she’s not yet displaying some of the devastating symptoms that her sister is affected by that she might not experience the same progression of her NPC. In her Days of Rare story Kelsie explained that for her “it’s just a diagnosis really… A kid with NPC is still just a kid regardless of if they have NPC or not.” Shona was diagnosed with NPC just a few months before her 16th birthday. Her parents had first started to notice that Shona was stumbling and falling often when she was about 13, and initially mistook it for teenage clumsiness, but it didn’t go away. They eventually received a diagnosis for Shona after she’d had a series of blood tests at the local hospital. The enormity of what an NPC diagnosis would mean for Shona meant that her parents waited until a few weeks after her birthday to share the diagnosis with her, in part because they also needed time to try to come to terms with the diagnosis and to grieve for Shona’s lost future.

NPUK is dedicated to making a positive difference to the lives of those affected by Niemann-Pick diseases and their families, from diagnosis to bereavement and beyond.

We provide a specialist care, support and advocacy service, aiming to minimise the burden of living with NPD. This includes practical advice, emotional support and expert information, and the active support of research that will lead to progress in care and treatment.

Niemann-Pick diseases (NPD) are a group of rare inherited Lysosomal Storage Disorders (LSDs) that can affect both children and adults. These can be further divided into two distinct subgroups: acid sphingomyelinase deficiency (ASMD), caused by mutations of the SMPD1 gene, which includes NiemannPick disease types A and B, and NiemannPick disease type C (NPC), a cellular lipid trafficking disorder, caused by NPC1 or NPC2 mutations.

Learn more about Niemann-Pick diseases and our work at: NPUK.org