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This week, we’ll be discussing what’s happening in the realm of awareness, highlighting both rare and non-rare awareness events, spotlighting upcoming conferences in July, and a quick-fire roundup of global news.
Welcome to this week’s episode of Signalise: a Dazzle4Rare podcast. Bringing you the TL;DR on the the latest in the world of rare and associated conditions. This week, we'll be discussing what's happening in the realm of awareness, highlighting both rare and non-rare awareness events, spotlighting upcoming conferences in July, and a quick-fire roundup of global news in the rare and associated communities around the world. Let’s not forget your Dazzle4Rare 2023 info!
Strap in with your favourite beverage or snack and let’s do the darn thing!
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Don't miss an episode of Signalise! Be sure to ✔️FOLLOW or ✔️SUBSCRIBE via your podcast app of choice. You can also follow #Signalise news on @Dazzle4Rare on Facebook , Instagram , and Twitter. You can find host Kimberly on LinkedIn at @kattague.
The Dazzle4Rare event and Signalise podcast amplify the voices of rare disease and associated communities by sharing their stories, new, events, and more. Working together, we have strength in numbers, amplifying our critical messages.
We feature guests and discuss relevant topics for rare disease patients, caregivers, and those in the URCIID community.
Hi I'm your host, Kimberly Thomas tag and
you're listening to signalise dazzle for
our podcast. Whether you're a patient
advocate, caregiver, or clinician, signalise as
your source for good news, personal stories,
events, and the things that rare and
associated communities
care about, follow
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at DAZLE the number 4.
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Welcome to this week's episode of
Signalise, a Dazzle for our podcast bringing
you the TLDR on the latest in the
world of rare and associated conditions.
This week, we'll be discussing what's
happening in the realm of awareness,
highlighting both rare and non rare
events spotlighting upcoming conferences.
And a quick fire roundup of global news
in the rare and associated communities
around the world. And let's not
forget your dazzle for rare 2023 info.
So strap in, get your favourite
beverage or snack and
let's do the darn thing. What's
up in awareness for July?
1st we have fragile X
Syndrome Awareness Month
dedicated to spreading
awareness and providing support
to families affected by
this rare syndrome. Fragile
X syndrome caused by
a mutation to the F MRI.
Pain can lead to long term intellectual disability.
According to the CDC, FXS is caused by changes in the
gene called Fragile X Messenger ribonucleoprotein or FMR
1 FMR 1 usually makes a
protein called FMRP that is needed
for brain development.
Folks with this gene mutation.
Do not make this
protein. Also there is a
dedicated FX awareness
day on the 22nd of July.
July is also sarcoma awareness month. Sarcomas are rare cancers that.
Develop in the.
Body such as places like the bones and the muscles.
You can find more information about
these two awareness months on our
dazzle for rare awareness calendar.
That's tough to say, head over to.
Dazzle4thenumberfourrare.net/awareness
underscore days
on the 23rd of July we have
World Castleman syndrome.
According to Castleman, Disease
collective Network CD CN this day
is an amazing opportunity for
Castleman C's advocates worldwide.
Patients, loved ones,
physicians and researchers to
come together to fight
against Castleman disease. To
continue to support patients
currently living with Castleman
disease, and to remember
and honour those patients.
Shield last World CD Day will
continue to be one day a year for
patients, loved ones, physicians and
researchers across the world to come
together and unite in the fight
against this disease. A day where we
can all show solidarity and our
commitment to taking this disease down.
On the 23rd we have World Shogun
Syndrome Day. The good folks at Shogren's
Foundation are interested in raising
much needed awareness for this condition.
It is marked every year on the 23rd, the
birthday of Doctor Heinrich Shogren. The Swedish
ophthalmologist who discovered Shogren
syndrome on the 25th. We have Jansen's disease.
Awareness in India.
What is Janssen syndrome? Well, according
to the nih.gov at Jansen's Metaphyseal
Chondrodysplasia or JMC is an ultra rare disease
of skeletal development and mineral ion balance.
JMC is caused by mutations in the parathyroid hormone PTH receptor, which is present at particularly high levels in growth plates such as bones.
And also in the kidneys.
On the 31st of July, we have
acute necrotizing capsulitis
awareness Day or A&E Awareness
Day. The gals at A&E International.
Kim and Rachel have
done so much not only for the
global A&E community,
but also for the Dazzle.
Over the last few years, we're
always happy to share their
messages of hope, support and
advocacy for the families facing.
A&E.
At any stage.
Civilised any can be fatal, and those
who survive this encephalitis are left with
serious long term
effects, according to the
A&E website acute
equalising encephalopathy,
as described by guard in the United
States, is a rare disease characterised by
brain damage, or encephalopathy, that
usually follows an acute febrile disease.
Mostly viral infections. The
symptoms of the viral infection, such
as fever, respiratory infection
and gastroenteritis, among others,
are followed by seizures,
disturbance of consciousness that may
rapidly progress to a coma, liver
problems and neurological deficits.
Now we have some non rare
awareness. The National Minority Health
Awareness Month is also in July.
Mental health is as important as what we
traditionally think of as our
physical health. The two are intimately
intertwined, often exacerbating
one another when stress depression.
Other things pop
up in life, no in-depth
conversation about rare
disease is truly complete
without acknowledging
the impact of environmental
and situational
stressors in our lives.
With that said, again
July is national minority
mental Health Awareness
Month. According
to the Health and Human Services Department
in the US this month is observed each.
To bring awareness to the unique
struggles that racial and ethnic
minority communities face
regarding mental health and Wellness
issues in the US, accessing
mental healthcare in the US has been
historically very difficult,
especially for minority groups.
It's just not great and and there's so much.
More that we could be doing.
What you are able to
access may come down to
your geographic location
in the United States,
Community support and
services, and your own
financial maintenance
now is a good time as
any to have an open dialogue about how the
pandemic and other isolating factors such as
virtual workspaces
and other non traditional
settings have impacted
the mental health of folks.
With all the blessings of technology
and innovation, there's also
many issues that need to be
addressed in an open and honest manner.
While national minority mental
health awareness may not be
rare, it is just as important
as any other awareness event.
The guys, gals and non binary pals in
our lives who intersect with communities
of colour and other minority groups
deserve our combined support to help us.
We all live healthier lives in as many ways as we can.
The Big Listen day
happens on the 24th of July
annually and this is in
celebration of the Samaritans.
But who are the Samaritans in the UK? To paraphrase a
statement from the official Samaritans UK website, whatever
you're facing, a Samaritan will face it with you every
10 seconds. Samaritans respond to a call for help.
Or here day or night, for
anyone who's struggling to cope.
Who needs someone to listen
to without judgement or pressure.
We offer listening and support to people and
communities and times of need, every life
lost to suicide is a
tragedy and the Samaritans
vision is that fewer
people die by suicide.
That's why we work tirelessly to reach
more people and make suicide prevention a
priority. While many may think of the
Samaritans as the suicide prevention hotline.
We offer so much more.
If you're struggling with any life issue
or stressor, there is someone available
24/7 to talk you through the moment
with compassion and without judgement.
There are great resource
to folks in a time of need
or crisis, which is why
I'm including them here.
Not only is the service
they offer a great value
to folks in the UK, but
also a reminder that.
Wherever you are.
In the world, there is someone willing to listen.
To what you're dealing with, and
there are so many good Samaritans
out in the world for each and
every one of them, I'm very grateful.
Next we have some offline
and online stuff coming
up. We have the rare
summit in October of 2023.
I am just giving you all some
advance notice because if
you're like me, you will hear
this and still forget to grab
your tickets. Procrastinators,
unite this year, Cam rare
rare summit will be taking
place on the 12th of October.
Then the event brings together
over 300 mines in rare disease. Get
your tickets on camraredisease.org
and be ready to make new Connexions.
Brainstorm with other rare
advocates and leaders and
debate what's possible in
our communities in an open
and safe environment.
Again, you can find more
information and get your
tickets from camraredisease.org.
Word and now we have a little information
from the health union, formerly Wego health.
The Health union will be hosting their
annual social health connexion conference.
The conference is
described as being for health
leaders. Folks can engage
virtually, which I love.
On the 25th and the 26th of July, it's an opportunity to connect with other leaders.
In the URCID space or
undiagnosed rare, chronically,
invisibly ill and disabled
spaces, and according to the
health Union website, they
will have sessions on health,
leadership and creating or
redefining your advocacy goal.
They will also be sharing a quote unquote.
Big news that.
Will take your health leader skills to the next level.
The conference will wrap with
the Social Health Awards ceremony
honouring the health leaders
across all condition areas
and platforms, and a note on
the Social Health Awards. The
judging has begun. Nominations
and endorsements are now closed.
So all we can do is wait for the social health connexion conference coming up.
Fighting of the rare is
an upcoming documentary
highlighting the
significance of biomedical
research and discovering treatments for rare
diseases, specifically focusing on lefora
disease, a rare
neurodegenerative condition
through compelling
testimonies from researchers,
patients, and their
families, the documentary
sheds light on the
ongoing efforts to unravel.
The mysteries of this rare
disease look out for the release on
the 26th of June 2023. On
their website fightingtherare.com.
And another piece of
rare disease media is take
care of Maya, a Netflix
documentary. The documentary
take care of Maya, tells
the story of Maya Kowalski
and her family's battle
with a rare condition.
The film explores Maya's journey from
admission to hospital to her parents, fight
to bring her home, shedding light on the
challenges faced in the healthcare system.
Mayor's condition, suspected to
be complex regional pain syndrome,
known as CRPS, led to
controversial treatments and ultimately
resulted in her mother's tragic
death. Now 17, Maya continues to
experience severe pain and her
family has filed A lawsuit against the.
Hospital. This documentary is available on Netflix UK, starting
the 19th of June. However, cheque listings where you are located to
find out when this new
documentary will be available to you.
According to Nord, CRPS affects
approximately 1 and 200,000 Americans.
Yee Haw. We have a little
bit of a rare news Roundup, so
here's the hops in the rare
and associated communities.
Right now we are celebrating Beacon for
rares birthday and their news. The good folks
at Beacon have a 10th anniversary coming
up in July, so congratulations to them.
It's a big month as they also have a
rebrand launching and have received some
funding from the National Lottery. Beacon
has received almost £405,000 in funding.
For three years from the
National Lottery to support
its empowerment programme
for rare disease patient.
The funding will enable
Beacon to expand its programme
offering accessible and
inclusive in person, online
and hybrid events. The newly
launched resources Hub will
provide on demand training
for patient group leaders.
To equip them with the knowledge
and confidence to advocate
for their communities,
Eagan aims to support smaller
patient organisations and
driving change for neglected
conditions through
effective training and support.
In just a moment, we
have another lottery
winner. So keep listening
for that news. But in
any event, great
stuff for Team Beacon.
Congratulations. You can
learn more about Beacon.
The rare and how you
can access the new hub
on their website
resourceshub.rarebeacon.org.
Off the back of the Adira conference, we
have an adera book to be published during the
recent adira or Equality
and Diversity and
Research Association
Conference, sponsored by
Couch Health Costello Medical and supported
by Beacon for Rare, it was announced that
there will be a
forthcoming book about the
Adira experience. This
was announced by Adira.
No chair, Professor Andrew
Mitchell. Well, we don't know a lot
of details yet. Stay tuned For
more information as it becomes
available and for opportunities
to participate in a drop,
we'll drop a link to episode
17, travelling the road to Adira.
In the show notes.
You may recall that touchen muscular
dystrophy Awareness Month was
recently we have some more Duchenne
news Duchenne UK revolutionary suit
for kids with the charity Duchenne
UK in collaboration with Project
Partners and support from NIH, R
CYP and Med Tech have a grant for over.
£1 million from the People's Post Code Lottery Dream Fund to develop a smart.
Suit that provides upper limb
assistance for children with Duchenne
muscular dystrophy or spinal
muscular atrophy. The project aims
to improve the everyday lives
of these children by creating a
suit that would be comfortable
to wear in a significant milestone.
Children with Duchenne have
already tried an early prototype and
provided valuable feedback to enhance
the design. The team at Duchene UK.
More with their expert partners,
including NIH, R CYP, Medtech,
MEDIPIX and NIH R Devices for
dignity and the Medtech Cooperative are
working toward commercialising the
smart suit and exploring avenues to
make it widely accessible to as
many children with the condition as.
Possible the devastating
impact of losing upper
body strength for children
like Eli, who lives with
Duchenne muscular
dystrophy, is highlighted by
Duchenne UK founder and
Elie's mother Emily Rubin.
Activities that may many
may take for granted, such as
feeding oneself, brushing
teeth, raising hands in class, can
become impossible. With
that assistance, this might suit
project aims to address these
challenges and empowered.
NIH R CYP Medtech is playing a crucial role
in identifying market opportunities and
mapping the ideal route
to market and exploring
the mechanisms to
ensure availability of
the suit focuses on
intellectual property,
strategy and design
and the goal of achieving
freedom to operate and maximising the suite's
impact on the lives of children with due.
Pompey disease patients dying for
treatment in India several rare disease
patients in Hyderabad, including seven
month Old Khana Rudraksha have died
while waiting for clearance of a â¹3
million central fund that would have
supported treatment for Pompey
disease. The delay in obtaining clearances.
From the Ministry of Health and
Family Welfare Committee has
resulted in the loss of lives and
financial struggles for patients.
The policy for rare diseases
introduced in 2021 allocates â¹5 million
as a one time fund for each rare
disease patient, but many are still
awaiting financial support. The
clearance process is time consuming
involving evaluations and the
procurement of imported medications.
Causing further delays and challenges for patients in accessing necessary treatments.
And one more story in the news
for the global rare community,
a social media clean influenza
is young son hospitalised with
Kawasaki disease clean
influenza. I think that's a new social
media term Sophie Hinchcliffe
known on social media as Mrs Hinch.
Recently shared that her three-year
old son Ronnie has been diagnosed with
Kawasaki disease after being rushed
to hospital with serious symptoms.
Kawasaki disease is a
rare and serious condition
which primarily
affects children. It is
characterised by inflammation
of the blood vessels,
including those supplying
blood to the heart.
The cause of the disease
is not fully understood,
but it is believed to be
genetic, environmental and
immunological. All of
these factors, converging the
signs and symptoms, typically
appear in phases and may.
Include high and persistent fever.
Redness, swelling of
the hands, feet, rash,
bloodshot eyes, swollen
lymph nodes, and peeling
of the skin. If left untreated, the disease
can lead to serious arterial complications.
After receiving treatment,
Nanny was able to
return home, but the
experience has had an impact
on the family. Mrs Hinch
has shared her gratitude
to the hospital staff
and has appealed to the.
Look for awareness and support
for Kawasaki disease, emphasising
the need for future understanding
and research into the condition.
Well, I don't know about you
folks, but this episode feels like
it has been jam packed with
information from our global community.
If you have news, events, webinars or
other projects that you want to signalise,
reach out to me. e-mail me at
kimberly@dazlethenumber4rare.net. That's dazzle.
Square.net.
Also dazzle for rare 2023 is quickly
approaching. We have 11 confirmed Co host,
but we're waiting for so many more of you
to accept your Facebook event invitation.
If you're unsure how to co-host or how you
can participate, reach out to us in a member
of Team Dazzle,
Carrie Titina or I will get
back to you. We can't
wait to see more of you.
Register for this year's event on Dazzle for
rare.net/participate so that you can have
total control over your information, contact
details and messages right there on the.
Site no need to e-mail me your
message or ask me to make changes
as you can do that all yourself
right there on the website.
It's easy to do and takes
only a few minutes. We look
forward to sharing more info
soon on ways to participate in
potential live streams coming
up during the event week, so
don't miss a beat. Subscribe
to the podcast to stay up to date.
In the event and Co host as they join.
Thanks for listening to
this week's episode of
Signalise, a Dazzle for
our podcast. To stay up
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follow us on Facebook,
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E the number 4 rare,
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