Rarity Life Heard

In this episode we will hear from fifteen year old  Tayen, who lives with Hypohidrotic ectodermal dysplasia, which is 1 of about 150 types of ectodermal dysplasia. Most people with hyperhidrotic ectodermal dysplasia have a reduced ability to sweat and struggle to regulate their body temperature, which is one of the symptoms Tayen has to manage.

In this episode we spoke to Tully Kearney MBE, about her life as an athlete whilst managing a progressive neurological movement disorder. They say that to be a successful Olympian you need determination and training, and just listening to Tully speak made it clear that she has both the steely determination and the commitment to train in spades. To use her own words; ‘ It was much easier for me to move in the water than it is on dry land. I was treated as any other kid, I wasn't treated as a disabled kid. I wasn't singled out. I could keep up with kids my own age….so there was kind of just complete freedom.’

In this episode we spoke to Dame Laura Lee DBE, the Chief Executive of Maggie’s about the incredible work they do, and the ethos behind it. The ways in which Maggie’s are changing and positively impacting the world of cancer care are truly incredible. Front and foremost of their mission stands a truly reassuring and also hugely empowering statement; “we know that when you’re diagnosed with cancer you need much more than just medical treatment.” With the reality of living with, or supporting a loved one with cancer affecting so many of us this recognition of the importance of a broader support modality is absolutely vital.

To read more about Dame Laura Lee and Maggie’s follow the link to the Rarity Life article: https://www.samebutdifferentcic.org.uk/raritylife

In this episode we hear from Christina who was diagnosed with a paraganglioma, which is a tumour in the neuroendocrine system at the age of 34. A neuroendocrine tumour is a rare tumour that can develop in many different organs of the body.

As part of the Days of Rare exhibition Caroline spoke to Same but Different about her Behçet’s disease diagnosis. Caroline was diagnosed with a Behçet’s disease after she started experiencing problems with her vision. The main symptoms of Behçet's disease include painful eye conditions and blurred vision, skin lesions, ulcers and stiff and swollen joints.

In this episode we will hear from Bethan who’s daughter Florence has been diagnosed with Mosaic trisomy 8, a chromosomal abnormality that can affect many parts of the body. In individuals with mosaic trisomy 8, some of the body's cells have three copies of chromosome 8 (trisomy), while other cells have the usual two copies of this chromosome. Children with trisomy 8 mosaicism have a characteristic and recognisable pattern of developmental abnormalities which can include moderate to severe learning difficulties, variable growth patterns and many musculoskeletal, visceral, and eye abnormalities.

At the age of 44 Angela was diagnosed with Charcot-Marie-Tooth disease, a progressive and degenerative condition. For many years Angela fought hard to continue living as she always had, to work hard, to keep busy, and crucially to stay active. But eventually the realities of living with CMT took their toll, forcing her to make changes that Angela found hard to accept emotionally. As Angela explains living with a rare disease can be hard, “it changes your perception of life. You have to learn to live with chronic pain. You have to learn to live with mobility issues.” And for Angela, it meant having to learn to live in a way she couldn’t imagine, and with which she is still at times having to come to terms with, to accept.

In this episode we will hear from Abigail who lives with SAPHO syndrome. SAPHO syndrome is a chronic disorder that involves the skin, bone, and joints. SAPHO syndrome was given its acronymic name based on the presence of synovitis, acne, pustulosis, hyperostosis, and osteitis in patients. SAPHO syndrome causes inflammation of joints with pain, and those living with SAPHO syndrome often live with chronic pain.

Hannah always knew she wanted to be a model, and still dreams of the day when she can walk into a high street shop and see her photographs displayed as part of a huge promotional campaign. In the Fragility of Beauty Hannah Harpin talks honestly about her experiences of being bullied on the basis of the way she looks, and the ways in which she has fought to reclaim and own the attention she receives. Hannah is determined not to let her rare disease limit or even define her, choosing instead to share her story and to be the change and the role model that she needed to see as a little girl.

Rarity Life is a brand new online publication that offers those affected by rare disease, disability and cancer the opportunity to create content that is truly inclusive, to unify our collective experience and to celebrate and share our differences. As part of Rarity Life we have created a podcast series, Rarity Life Heard to give you the opportunity to delve a little bit deeper into some of our guest’s stories.

In this episode we will hear from Michelle who lives with Behcet's disease. Behcet's disease (or syndrome), is a rare disorder that causes blood vessel inflammation throughout your body. Those with the disease can experience numerous symptoms that can seem unrelated at first, and can include mouth sores, eye inflammation, skin rashes and lesions.

In this episode we will hear from Rhys who lives with Superficial Siderosis. Superficial hemosiderosis of the central nervous system is a very rare disease of the brain resulting from chronic iron deposition in neuronal tissues associated with cerebrospinal fluid. Superficial siderosis is characterised by many symptoms resulting from damage to the brain.

In this episode we will hear from Michelle who lives with Myasthenia Gravis. Myasthenia Gravis (sometimes abbreviated to MG) is a chronic autoimmune condition that cause neuromuscular disorders, which are primarily characterized by muscle weakness and muscle fatigue. The condition can vary in severity between individuals, and in an individual the symptoms can also fluctuate with relapses and remissions.