Rarity Life Heard Same but Different

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.