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patient experience

Patient Experience: Living with Timothy syndrome

Published on 26/10/20 at 12:33pm

Thirteen-year-old Calvin Muir lives with the ultra-rare genetic condition Timothy syndrome. Like many parents of rare disease patients, his mother Sophie had a long and uphill struggle to secure a diagnosis, but together the two have helped push research into the condition and have even made a film.

Can you give us a bit of background on your son Calvin’s condition, Timothy syndrome?

Living with multiple ‘invisible’ conditions

Published on 26/05/20 at 01:05pm

Darren Taylor lives with a range of conditions including Dercum's disease, cystic fibrosis, fibromyalgia with chronic fatigue, and Tietze syndrome, many of which are misunderstood. He relays the impact that these coexisting conditions have had on his life, and discusses in his personal experience the social attitudes that the public and even medical staff have towards non-visible conditions.

Can you retrace your steps to how you reached your numerous diagnoses? 

Patient Experience: Living with type 1 diabetes

Published on 14/04/20 at 12:22pm

23-year-old US student Madelyn Lazra recently graduated with a BA in Business Law and certification in International Business, and is set to go to law school in Autumn. After having lived with type 1 diabetes for nearly 10 years, she recounts her experience of managing it and the challenges she has faced around the price of insulin and others’ understanding of the condition.

Can you retrace your steps to how you reached your diagnosis?

Patient Experience: Living with multiple rare diseases

Published on 17/02/20 at 11:59am

Carole Scrafton discusses her experience living with Ehlers-Danlos syndrome alongside other rare conditions that have manifested throughout her life, and introduces her charity FibroFlutters, which aims to reach out and help others living with rare diseases around the world.

Can you talk us through each of your diagnoses? Rare disease patients often relate the difficulty in finding diagnoses or even medical professionals who have heard of their condition. This must have been even truer in your case?

Patient experience: Living with desmoid fibromatosis

Published on 04/12/19 at 12:51pm

Lisa Pascoe lives with a rare, benign desmoid tumour in her abdomen. She opens up to Pharmafocus on her diagnosis and experience with the UK healthcare system, as well as her advocacy for Desmoid United UK and her proactive approach to change things for the better.

Can you explain a bit about your condition?

Living with acute myeloid leukaemia

Published on 23/09/19 at 11:48am

Steve Rothberg was blindsided by an AML diagnosis that progressed rapidly with little warning. Ten years later, he discusses his outlook and strategies during the intensive treatment, and how a coincidental GP visit and a stem cell transplant changed the course of what might have been.

What originally alerted you to the fact that something was off with your physical health?

Living with a rare genetic neurodevelopmental disorder

Published on 05/08/19 at 12:36pm

Vaila Morrison’s daughter Eilidh was born with the ultra-rare condition KAT6A. As a designer and architect by profession, Vaila told Pharmafocus the ways in which having daughter with a disability transformed the way she sees the world.

What can you tell us about KAT6A?

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?

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