The Rare Reality of Rare Diseases – Stephanie Yau

Stephanie Yau

Author: Stephanie Yau

Rare Disease Project Manager

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Stephanie Yau is the Rare Disease Project Manager for Manchester University NHS Foundation Trust (MFT). On Rare Disease Day 2019, she talks about some of the difficulties faced by people with a rare disease, and how Manchester is working to improve research.

Stephanie Yau showing her support for Rare Disease Day 2019

Stephanie Yau showing her support for Rare Disease Day 2019

A rare disease is one that affects less than 1 in 2,000 people. There are over 6,000 different types of rare disease and around 80% have a genetic origin.

Despite being described as rare, around 3 million people in the UK are affected by a rare disease, and 1 in 17 will have one at some point in their lives.

So actually, whilst one particular rare disease is individually rare, collectively they’re pretty common.

The Rare Reality for Patients

Today (28 February) is Rare Diseases Day and people around the world are raising awareness of rare diseases and some of the inequalities patients face in terms of available services and access to treatment for their condition.

1 in 17 people will be affected by a rare disease at some point in their life - Rare Disease UK

1 in 17 people will be affected by a rare disease at some point in their life – Rare Disease UK

The stark reality is that very little has changed for rare disease patients in the last five years. Patients are still experiencing difficulties in diagnosis, accessing information about their condition, receiving appropriate coordinated care, accessing treatments and finding out about research.

It’s clear that a coordinated approach is the way forward to help improve this outlook for people with a rare disease.

This year’s theme of the ‘Rare Reality’ aims to highlight how some of these day-to-day issues have a massive impact on peoples’ lives. We’ll be joining people around the world to raise awareness online via the hashtag #RareDiseaseDay, so follow us via @MFT_Research or check out activity across the UK via Rare Disease UK (@RareDiseaseUK).

How is Manchester supporting patients with a rare disease?

With so many rare diseases connected to genetics, Manchester is leading the way in research and MFT host the Manchester Centre for Genomic Medicine.

This provides patients and their families with state-of-the-art genetic testing, as well as a whole range of advice and guidance about their condition through their genetic counselling service. A big part of their role is also patient and public engagement and involvement, genetic testing and referral to other services.

Naz Khan, Principal Registered Genetic Counsellor for MFT, explains the service:

The diagnosis of a rare genetic condition can have a considerable psychosocial impact on families. Genetic counselling provides the family with an opportunity to ask questions about the diagnosis. We also help explain genetic test results and help the family adjust to the diagnosis by providing education and psychosocial support to patients and families with rare genetic disorders.

Counsellors also provide families with information on recurrence risk and reproductive options available to the couple. We also have wide networks and can connect families to available support services, as well as other families who may have the same rare condition.

recent visit of Ralph the medi-robot to our Children’s Clinical Research Facility (CCRF) at the Royal Manchester Children’s Hospital, also demonstrates how we’re trying to improve the experiences of children involved in rare disease research. A number of the children who enjoyed getting to know Ralph have Hunters disease, and were in the CRF for weekly enzyme replacement therapy for an ongoing trial.

Through the Manchester BRC, the Trust is also involved in recruiting to the BioResource in rare disease themes such as Neurofibromatosis Type 1 (NF1) and Type 2 (NF2), Congenital Hyperinsulinism CHI), as well as 40 other rare diseases. This project helps to build a national repository of patients DNA to provide genotype and phenotype characteristics that can be quickly called upon by researchers. Find out more about the Manchester BioResource here.

Join us for our Rare Diseases Workshop – 22 March 2019

Work on rare diseases touches almost every speciality across MFT. In my role I’m working across our many teams and departments to build a picture of the work as a whole and how we can develop a cohesive approach to rare disease research at MFT.

We want to build a strong network for rare diseases, and so far this has covered everything from partners within the life sciences industry, clinicians across MFT and our extensive research infrastructure.

To help this, we’re hosting a free Rare Diseases Workshop on 22 March 2019, where we’ll be exploring some of the new opportunities to increase our research and innovation in the field, and see improved care for patients.

Everyone is welcome and you can register for the workshop here.

How to get involved in rare disease research

So whether you’re new to rare disease research, aware of it within your department, or have thoughts on how we can improve our work across the Trust, I’d love to hear from you.

We’re particularly interested in hearing from consultants, nurses, midwives, allied health professionals and research teams across the Trust, so that we can map out our rare disease footprint together.

Feel free to get in touch with me via / 0161 276 5931.