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patient experience

Living with mal de debarquement syndrome

Published on 01/07/19 at 11:40am
Dr Dai, Dr Mucci and Dr Yakushin at the 2018 Barany Society Meeting

Polly Moyer reflects on her experiences living with the rare condition mal de debarquement syndrome, and discusses how connecting with other rare disease patients in professional and personal contexts has helped her maintain optimism. 

Can you provide a bit of background on mal de debarquement syndrome?

Living with Scimitar syndrome

Published on 28/05/19 at 11:44am

Katy Baker has lived her entire life with the rare congenital heart defect Scimitar syndrome. She reflects on the system that treated her, how she has learned to live with the disease, and why it spurred her to advocate for patients like herself.

What is Scimitar syndrome?

It affects one in 100,000 people. It’s a congenital heart defect, which means that the blood from the pulmonary valve doesn’t drain into the right lung, so only the left lung works. So, it’s a heart defect, but only one of your lungs work as well.

Living with a rare chromosome disorder

Published on 11/04/19 at 12:28pm

Rebecca Pender’s daughter Hannah lives with the ultra-rare condition Inv Dup Del 8p, a genetic arrangement that affects just 80 people worldwide. She recounts the struggle to secure a diagnosis, and how the experience shaped her attitude on how we confront rare disease.

Can you shed some light on the nature of Inv Dup Del 8p?

Patient Experience: Living with two rare diseases

Published on 18/03/19 at 12:03pm

Dan Jeffries was diagnosed with the ultra-rare condition Wyburn-Mason syndrome at a young age, leaving him blind in one eye. But this occurrence, at a prevalence of one in 70 million, was compounded later in life when he found he was living with not one, but two rare conditions, complicating treatment and leading to some very close calls.

How did you originally come to be diagnosed with Wyburn-Mason syndrome?

Living with melanoma after surgery

Published on 25/02/19 at 12:09pm

Dr Elizabeth Walmsley was left lost when she received her melanoma diagnosis. Thankfully, through perseverance and the advice of friends she was able to receive treatment via a clinical trial. She shares the lessons she learnt along the way.

How did you reach your original diagnosis?

Living with Alström syndrome

Published on 14/01/19 at 12:31pm

Kay Parkinson lived the tragedy of seeing both of her children born with an ultra-rare condition, and the elusiveness of accurate diagnosis. She discusses how her experience has shaped her journey to help others, a journey which eventually saw her become CEO of the Cambridge Rare Disease Network and found Alström Syndrome UK.

Can you tell us about the condition?

Living with Langerhans Cell Histiocytosis

Published on 11/10/18 at 12:43pm

Affected as a young child by a rare disease which targets just one in 200,000 and led to neurodegeneration throughout her teens, Niamh ni Ruari now uses a wheelchair for mobility. She shares her story of life with her condition and a few thoughts on society’s attitudes towards the disabled community.

Can you tell me a bit about the condition, your diagnosis and the symptoms you experience?

Living with fibromyalgia

Published on 13/09/18 at 01:58pm

Scottish comedian Carina MacLeod recounts her life with fibromyalgia and the benefits of comedy in dealing with a chronic condition, explaining why laughter can often be the best medicine.

What was the process through which you first began to develop the symptoms of fibromyalgia?

Living with Behçet's disease

Published on 30/07/18 at 11:22am

Suzanne Morris speaks to Pharmafocus to discuss her life with Behçet's disease, a rare condition characterised by the inflammation of the body’s blood vessels and a host of other seemingly unrelated symptoms.

Could you explain when you first developed symptoms of the condition?

Living with childhood dementia

Published on 14/06/18 at 11:04am

Claire Young explores her family’s journey through the diagnosis of her son George, who lives with Batten disease, a form of childhood dementia, and the challenges they’ve overcome and lessons they have learned along the way.

Could you explain how George came to be diagnosed as having childhood dementia?

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