familial chylomicronaemia syndrome

28 July 2021

familial chylomicronaemia syndrome

RARE Revolution are proud to be working with Akcea Therapeutics UK on our special Spotlight edition, shining a light on familial chylomicronaemia syndrome, launching this Friday 6th November.

For launch;

Today marks FCS Awareness Day in the UK and we are honoured to launch this special spotlight edition, bringing you the voice of the familial chylomicronaemia syndrome (FCS) community.

We are proud to have worked with Akcea Therapeutics UK on this Spotlight edition.

In this special publication, we bring you powerful stories highlighting the challenges of living with FCS, from both patients and their families, and the healthcare professionals and charities who support them in managing this often very isolating condition.

Editors Welcome

We all know that rare disease can be at best challenging, and at worst cruel and unrelenting, and every share between for the impact on individuals and those around them. For individuals diagnosed with familial chylomicronaemia syndrome (FCS) the impact is immense. They quite literally eat, sleep and breathe FCS.

What is familial chylomicronaemia syndrome

Dr Charlotte Dawson provides insight into the difficulties patients with FCS face in their diagnostic journey, the challenges in managing the condition and the need for good coordinated care in treating this ultra-rare disease.

Six-in-ten with Professor Anthony Wierzbicki

In our ‘six in ten’ interview, Professor Wierzbicki discusses the challenges of diagnosis for patients with familial chylomicronaemia syndrome (FCS) and the difficulties faced in managing an isolating and often misunderstood rare condition

Specialist nurses providing a lifeline for people with FCS

Katherine Peers nurse practitioner, shares her experience of treating and supporting patients with familial chylomicronaemia syndrome (FCS), and the challenges that she sees them facing in managing their rare disease 

Providing the essential tools to manage a low-fat diet

Sarah Firman is a dietitian at Guy’s and St Thomas’ Hospital and has worked in the adult inherited metabolic diseases service since 2017. She talks to RARE Revolution about the support she provides those with FCS in maintaining such a strict low-fat diet

My life with FCS

Jill Prawer is the founder and chair of the charity Action FCS, having herself been diagnosed with the condition as a baby. She lives in London with her husband and has three children. Jill shares her journey with RARE Revolution explaining the challenges she has faced living with a rare disease and how it has shaped her life and informed her decisions

Taking Action for FCS

Jill Prawer founded the LPLD Alliance, now called Action FCS, in 2015 with three other trustees. Three years before, she had set up a community on RareConnect, creating the first opportunity for patients to connect with each other across the world

Fostering a positive mind and body

Soniya Vadher-Patel is 33 years old and runs her own business as a fitness trainer and sports nutritionist. She lives in West Sussex, UK with her husband and two young children. She talks to RARE Revolution about how a lack of knowledge and understanding about her condition has shaped her life decisions and about the challenges she has faced in the world of employment, dealing with the health issues imposed by familial chylomicronaemia syndrome (FCS)

Laying the foundations for a life with FCS

Ali Carter is mum to Molly, a happy 10-year-old diagnosed with familial chylomicronaemia syndrome (FCS) just after birth. They live in West Sussex, UK with Holly’s two teenage brothers. Ali discusses her journey parenting a child with FCS and her concerns and hopes for her daughter’s future

A lifetime of support

Dave and Pat Wade have been married for over 40 years and have three grown-up sons. Both now retired, they live in Greater Manchester, UK. Pat is the treasurer for the charity Action FCS. She was recognised as having problems digesting fats as a baby and was diagnosed with familial chylomicronaemia syndrome (FCS) in her late teens. Dave talks to RARE Revolution about how they deal with Pat’s condition as a couple, and about how improvements in food choices have made managing the condition easier, but also explains that the lack of awareness about the disease can still pose challenges

The cultural challenges of FCS

Dr Alan Jones is a consultant physician and chemical pathologist at University Hospitals Birmingham. He discusses the cultural and ethnic challenges that people with familial chylomicronaemia syndrome (FCS) face and why there is such prevalence among the  South Asian communities

HEART UK – the charity advocating for the nation’s cholesterol and lipid conditions

HEART UK, the UK’s only cholesterol charity, aims to support those with raised cholesterol and other blood fat (lipid) conditions through raising awareness, education and support. RARE Revolution had the pleasure of speaking to Simon Williams, head of communications and policy, from the charity to find out more about the work they are doing to support both patients and healthcare professionals, and about their specific work with familial chylomicronaemia syndrome (FCS)

The charity putting care coordination firmly on the agenda

Genetic Alliance UK are a national charity who aim to improve the lives of patients and families affected by rare, genetic and undiagnosed conditions. RARE Revolution spoke to Nick Meade, director of policy, to learn about the ways they support the rare community and about their focus on coordinated care in the upcoming rare disease strategy—a positive step for multidisciplinary conditions such as familial chylomicronaemia syndrome (FCS)

Full edition https://bit.ly/SpotlightFCS

Editors welcome https://bit.ly/2TVvA4j

What is FCS http://bit.ly/WhatisFCS

Six in Ten http://bit.ly/FCS-SixinTen

Specialist Nurses http://bit.ly/FCSSpeciaistNurse

Essential tools for low fat diet http://bit.ly/FCS-Dietitian

Dietary Guidance for FCS http://bit.ly/FCSGuidance

My life with FCS http://bit.ly/FCS-MyLife

Action FCS http://bit.ly/ActionFCS

Fostering a positive mind and body http://bit.ly/FCS-Soniya

Laying the foundations for a life with FCS http://bit.ly/FCS-Molly

A life time of support http://bit.ly/FCS-LifetimeofSupport