WHAT WE’VE BEEN UP TO IN SEPTEMBER
THE HIDDEN COST OF RARE DISEASE
This week we have launched a report on the Hidden Costs associated with having a rare disease.
The study collected data from patients, family members, healthcare professionals and commissioners to better understand how services are currently organised for patients with rare conditions and to identify the costs and benefits associated with this.
Read the report here.
DATA SECURITY, CONSENT AND OPT-OUTS
We have responded to the Caldicott Review. Please click here to read our response.
PCD SUPPORT GROUP 25THANNIVERSARY
Recently we attended the Primary Ciliary Dyskinesia Family Support Group’s 25thanniversary celebrations on the Thames.
Read about the event in their press release here.
COLLABORATION IN HEALTHCARE
The European Federation of Pharmaceutical Industries Association (EFPIA) has produced a Health Collaboration Guide to showcase best practice in collaboration between stakeholders in the healthcare sector. Our campaign Rare Disease UK is featured!
Swan UK member and blogger Alex writes about her experience of having a child with an undiagnosed genetic condition hospitalised.
CHOICE FOR COUPLES AT RISK OF PASSING ON A GENETIC CONDITION
Earlier this month we attended an event organised by the Progress Educational Trust looking at preimplantation genetic screening and diagnosis. Preimplantation genetic diagnosis (PGD) is a technique that helps couples who know they have a risk of having a child with a serious genetic condition conceiving a child free from this. Read the write up of this event here.
EVENTS AND NEWS FROM OUR MEMBERS AND ELSEWHERE
INVOLVING PATIENTS IN DECISIONS ABOUT THEIR CARE
The National Institute of Health and Care Excellence (NICE) has launched an action plan and a range of recommendations to implement shared decision making as a means to put patients at the heart of the decisions being made about their own care.
Shared decision making is particularly important to our community, where patients often find themselves acting as the expert in many of their interactions with clinicians. This is not particularly surprising; with over 6000 rare conditions, clinicians cannot be expected to know each condition intimately. They can, however, be expected to take the expertise of their patients seriously, and enable them to make decisions that best reflect their priorities and what is right for them.
Read more on the NICE blog.
FAMILY DAY FOR 16P11.2 SYNDROMES
1 to 5pm, Saturday 22 October 2016
Meet other families affected by the condition, hear updates about research and support organisations. Sign up on eventbrite.
COUNT THE CALS
Count the Cals is an awareness raising campaign by the Childhood Tumour Trust to educate the public on the signs of neurofibromatosis. 95% of children with six or more Cafe au lait patches (CALs) have the genetic mutation for NF1. Find out more here.
RARE DISEASE SURVEY
Don’t forget to fill in the Rare Barometer Survey – the questions have been specifically designed to help organisations in their campaigning and policy work. If we can help EURORDIS by getting enough people to take part, this will be a great resource for the whole rare disease community across Europe.
FIND OUT ABOUT RARE DISEASE RESEARCH
12.30pm, Friday 21 October 2016
Birmingham Research Park
Join the Birmingham Health Partners for their rare disease research open day. Hear from experts about exciting research initiatives taking place in Birmingham.
More details here.
RARE BUT REAL 2016
Submit your photos to the EURORDIS photo competition to win prizes and help raise awareness of rare disease!
INFORMATION FOR RARE DISEASE GROUPS
Findacure have launched an online portal of resources for small rare disease charities. Take a look here.