Rare Diseases event at Westminster Parliament

Rare Diseases event at Westminster Parliament


Hi, it’s it’s Henry Shelford, chairperson of SarcoidosisUK. We promised that 2020 was the year of
the video. so we’re trying to keep that up. We’re trying to use
video to keep you in touch with things that’s would otherwise
just be perhaps in the newsletter or you’d see them built
up and you see them at the end and we try and want you to
use video to tell you about, you know, part of the journey
as we do things. Today, Alan who’s holding the video
and myself we’ve been to parliament. We’ve been to rare disease day with Rare Disease UK to bring to together
a group of rare disease charities and brought together parliamentarians
and Lords and particularly the all party group on
on rare diseases and the deputy health Minister to talk about
disease and what’s happening. We had the good
fortune to talk to Baroness Neville Jones, so she’s involved
because her God daughter has a rare genetic disease, has a chromosomal
disease, and she’s part of the all party group
for five years and we talked to Dr Jayne Spink. She’s the
CEO of both Rare Disease UK and Genetic Alliance and Genetic Alliance.
are the charity that runs Rare Disease UK and actually that’s
a big part of why we were there so if you’re a genetic disease,
there’s actually quite a lot of investment and support, there’s
a genome project which is has looked to get a lot
of genetics data for research, but for us, for a non
As you can see, there’s not so much there for us and so that’s
what we were talking to Dr Jayne Spink around about
and what we talked about is that something that’s well well-known
within rare diseases you know there are about 6000-8000 and
rare diseases and a rare disease is anything with less than
one in 2000 and we’re in sarcoidosis we’re one in ten thousand so we’re we’re very much there. But with 6000, we have a problem that
you know you can’t expect everyone to know all about them.
You know we have an issue with GPs, you know they can’t
keep in contact with all 6000 or know what to do and someone talk
very powerfully about going to an emergency clinic, going to
A and E with a big problem that was a very big problem because
of their disease and they presented a card saying I have
this disease, this is the issue, you need to talk to my
consultant and it didn’t happen and fortunately it turned out okay
and when she finally met with her consultant at a regular
appointment, the consultant just said, you know we got
lucky that time and and as she said, we can’t depend on
luck and so what we’re going to talk about and we talked
about is the issue that rare diseases are often misdiagnosed,
the symptoms can mimic other conditions getting (sorry about the siren) getting the specialist care is very important. I look at
mental health as they deal with it. But getting that information to those in the emergency situation is critical getting information to GPs who can’t be can’t be expected to keep on top is critical so we talked to Dr Jayne Spink, head of Rare Disease UK, about that and we’re going to be meeting with her to talk about it more and we and we hope to talk about an alliance for us to do that. So that’s a big thing coming out
of this meeting and certainly talking with Baroness Neville Jones she was also very aware about
this problem. So I think it was a very valuable and important meeting
from which we’re hoping to build, but so I hope that’s our update. I can see Alan, hopefully the videos ok – he’s shaking it’s so cold. So we had to come out here, you’re not allowed
to video in Parliament. so that’s why we’re here with Parliament in the
background. Our next video, we’ll update you as
we go along. We’re going to update you on different things. Our next
video is on Friday when which is about Marcin. So we’re saying
goodbye to Marcin. He is off to travel the world. Literally.
I think his first stop is Vietnam and we’re just talking to
him wishing him well talking about his highlights of being here which I know he wants to talk about, some of the, you know, the amazing
fundraising that we’ve done. We want to wish him well and talk about what he’s off to do and then
our next video’s on Monday, or early next week, we’re going to
say hello to new Marcin. Leo Casimo is joining us. We’re
really excited about him. Obviously big shoes to fill, but
yeah, very excited about so join on Friday to say goodbye
to Marcin and join back on Monday to say hello to Leo.
Otherwise this is our update on this. We’ll update you on more things,
hope you’ve enjoyed it and thank you for watching goodbye.

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