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!
‐--
Links
- https://www.dazzle4rare.net/awareness_days/
- https://sjogrens.org/
- https://aneinternational.org/acute-necrotizing-encephalopathy/
- http://www.samaritans.org/about-samaritans/our-organisation/what-we-do/
- http:// camraredisease.org
- https://www.fightingtherare.com/
- resourceshub.rarebeacon.org
- https://signalise.podbean.com/e/ep17-edira/
- https://cypmedtech.nihr.ac.uk/2023/02/28/smart-suit-featured-on-bbc-news/
- https://timesofindia.indiatimes.com/city/hyderabad/rare-disease-patients-in-hyd-trapped-in-funding-quagmire/articleshow/101093534.cms?from=mdr
- https://www.nottinghampost.com/news/celebs-tv/mrs-hinch-reveals-three-year-8534938
---
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.
Mark as Played
Transcript
Episode Transcript
Available transcripts are automatically generated. Complete accuracy is not guaranteed.
(00:00):
Hi I'm your host, Kimberly Thomas tag andyou're listening to signalise dazzle for
(00:03):
our podcast. Whether you're a patientadvocate, caregiver, or clinician, signalise as
your source for good news, personal stories,events, and the things that rare and
associated communitiescare about, follow
signalise and dazzle frereat DAZLE the number 4.
RARE on Facebook, Instagram and Twitter, where we'll post episode links updates.
(00:28):
Welcome to this week's episode ofSignalise, a Dazzle for our podcast bringing
you the TLDR on the latest in theworld of rare and associated conditions.
This week, we'll be discussing what'shappening in the realm of awareness,
highlighting both rare and non rareevents spotlighting upcoming conferences.
And a quick fire roundup of global newsin the rare and associated communities
(00:50):
around the world. And let's notforget your dazzle for rare 2023 info.
So strap in, get your favouritebeverage or snack and
let's do the darn thing. What'sup in awareness for July?
1st we have fragile XSyndrome Awareness Month
dedicated to spreadingawareness and providing support
to families affected bythis rare syndrome. Fragile
X syndrome caused bya mutation to the F MRI.
(01:15):
Pain can lead to long term intellectual disability.
According to the CDC, FXS is caused by changes in thegene called Fragile X Messenger ribonucleoprotein or FMR
1 FMR 1 usually makes aprotein called FMRP that is needed
for brain development.Folks with this gene mutation.
(01:39):
Do not make thisprotein. Also there is a
dedicated FX awarenessday 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 aboutthese two awareness months on our
(02:01):
dazzle for rare awareness calendar.That's tough to say, head over to.
Dazzle4thenumberfourrare.net/awarenessunderscore days
on the 23rd of July we haveWorld Castleman syndrome.
According to Castleman, Diseasecollective Network CD CN this day
is an amazing opportunity forCastleman C's advocates worldwide.
(02:25):
Patients, loved ones,physicians and researchers to
come together to fightagainst Castleman disease. To
continue to support patientscurrently living with Castleman
disease, and to rememberand honour those patients.
Shield last World CD Day willcontinue to be one day a year for
patients, loved ones, physicians andresearchers across the world to come
together and unite in the fightagainst this disease. A day where we
can all show solidarity and ourcommitment to taking this disease down.
(02:52):
On the 23rd we have World ShogunSyndrome Day. The good folks at Shogren's
Foundation are interested in raisingmuch needed awareness for this condition.
It is marked every year on the 23rd, thebirthday of Doctor Heinrich Shogren. The Swedish
ophthalmologist who discovered Shogrensyndrome on the 25th. We have Jansen's disease.
Awareness in India.
(03:14):
What is Janssen syndrome? Well, accordingto the nih.gov at Jansen's Metaphyseal
Chondrodysplasia or JMC is an ultra rare diseaseof 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.
(03:38):
And also in the kidneys.
On the 31st of July, we haveacute necrotizing capsulitis
awareness Day or A&E AwarenessDay. The gals at A&E International.
Kim and Rachel havedone so much not only for the
global A&E community,but also for the Dazzle.
Over the last few years, we'realways happy to share their
messages of hope, support andadvocacy for the families facing.
(04:00):
A&E.
At any stage.
Civilised any can be fatal, and thosewho survive this encephalitis are left with
serious long termeffects, according to the
A&E website acuteequalising encephalopathy,
as described by guard in the UnitedStates, is a rare disease characterised by
brain damage, or encephalopathy, thatusually follows an acute febrile disease.
(04:21):
Mostly viral infections. Thesymptoms of the viral infection, such
as fever, respiratory infectionand gastroenteritis, among others,
are followed by seizures,disturbance of consciousness that may
rapidly progress to a coma, liverproblems and neurological deficits.
Now we have some non rareawareness. The National Minority Health
(04:42):
Awareness Month is also in July.Mental health is as important as what we
traditionally think of as ourphysical health. The two are intimately
intertwined, often exacerbatingone another when stress depression.
Other things popup in life, no in-depth
conversation about raredisease is truly complete
(05:04):
without acknowledgingthe impact of environmental
and situationalstressors in our lives.
With that said, againJuly is national minority
mental Health AwarenessMonth. According
to the Health and Human Services Departmentin the US this month is observed each.
To bring awareness to the uniquestruggles that racial and ethnic
minority communities faceregarding mental health and Wellness
(05:25):
issues in the US, accessingmental 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 toaccess may come down to
your geographic locationin the United States,
Community support andservices, and your own
financial maintenancenow is a good time as
(05:46):
any to have an open dialogue about how thepandemic and other isolating factors such as
virtual workspacesand other non traditional
settings have impactedthe mental health of folks.
With all the blessings of technologyand innovation, there's also
many issues that need to beaddressed in an open and honest manner.
While national minority mentalhealth awareness may not be
(06:09):
rare, it is just as importantas any other awareness event.
The guys, gals and non binary pals inour lives who intersect with communities
of colour and other minority groupsdeserve our combined support to help us.
We all live healthier lives in as many ways as we can.
The Big Listen dayhappens on the 24th of July
annually and this is incelebration of the Samaritans.
(06:31):
But who are the Samaritans in the UK? To paraphrase astatement from the official Samaritans UK website, whatever
you're facing, a Samaritan will face it with you every10 seconds. Samaritans respond to a call for help.
Or here day or night, foranyone who's struggling to cope.
Who needs someone to listento without judgement or pressure.
We offer listening and support to people andcommunities and times of need, every life
(06:53):
lost to suicide is atragedy and the Samaritans
vision is that fewerpeople die by suicide.
That's why we work tirelessly to reachmore people and make suicide prevention a
priority. While many may think of theSamaritans as the suicide prevention hotline.
We offer so much more.
If you're struggling with any life issueor stressor, there is someone available
(07:15):
24/7 to talk you through the momentwith compassion and without judgement.
There are great resourceto folks in a time of need
or crisis, which is whyI'm including them here.
Not only is the servicethey offer a great value
to folks in the UK, butalso a reminder that.
Wherever you are.
In the world, there is someone willing to listen.
To what you're dealing with, andthere are so many good Samaritans
out in the world for each andevery one of them, I'm very grateful.
(07:39):
Next we have some offlineand online stuff coming
up. We have the raresummit in October of 2023.
I am just giving you all someadvance notice because if
you're like me, you will hearthis and still forget to grab
your tickets. Procrastinators,unite this year, Cam rare
rare summit will be takingplace on the 12th of October.
Then the event brings togetherover 300 mines in rare disease. Get
(08:02):
your tickets on camraredisease.organd be ready to make new Connexions.
Brainstorm with other rareadvocates and leaders and
debate what's possible inour communities in an open
and safe environment.Again, you can find more
information and get yourtickets from camraredisease.org.
Word and now we have a little informationfrom the health union, formerly Wego health.
(08:23):
The Health union will be hosting theirannual social health connexion conference.
The conference isdescribed as being for health
leaders. Folks can engagevirtually, which I love.
On the 25th and the 26th of July, it's an opportunity to connect with other leaders.
In the URCID space orundiagnosed rare, chronically,
invisibly ill and disabledspaces, and according to the
(08:45):
health Union website, theywill have sessions on health,
leadership and creating orredefining 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 withthe Social Health Awards ceremony
honouring the health leadersacross all condition areas
(09:05):
and platforms, and a note onthe Social Health Awards. The
judging has begun. Nominationsand endorsements are now closed.
So all we can do is wait for the social health connexion conference coming up.
Fighting of the rare isan upcoming documentary
highlighting thesignificance of biomedical
research and discovering treatments for rarediseases, specifically focusing on lefora
(09:28):
disease, a rareneurodegenerative condition
through compellingtestimonies from researchers,
patients, and theirfamilies, the documentary
sheds light on theongoing efforts to unravel.
The mysteries of this raredisease look out for the release on
the 26th of June 2023. Ontheir website fightingtherare.com.
(09:49):
And another piece ofrare disease media is take
care of Maya, a Netflixdocumentary. The documentary
take care of Maya, tellsthe story of Maya Kowalski
and her family's battlewith a rare condition.
The film explores Maya's journey fromadmission to hospital to her parents, fight
to bring her home, shedding light on thechallenges faced in the healthcare system.
Mayor's condition, suspected tobe complex regional pain syndrome,
(10:11):
known as CRPS, led tocontroversial treatments and ultimately
resulted in her mother's tragicdeath. Now 17, Maya continues to
experience severe pain and herfamily has filed A lawsuit against the.
Hospital. This documentary is available on Netflix UK, startingthe 19th of June. However, cheque listings where you are located to
find out when this newdocumentary will be available to you.
(10:32):
According to Nord, CRPS affectsapproximately 1 and 200,000 Americans.
Yee Haw. We have a littlebit of a rare news Roundup, so
here's the hops in the rareand associated communities.
Right now we are celebrating Beacon forrares birthday and their news. The good folks
(10:56):
at Beacon have a 10th anniversary comingup in July, so congratulations to them.
It's a big month as they also have arebrand launching and have received some
funding from the National Lottery. Beaconhas received almost £405,000 in funding.
For three years from theNational Lottery to support
its empowerment programmefor rare disease patient.
(11:17):
The funding will enableBeacon to expand its programme
offering accessible andinclusive in person, online
and hybrid events. The newlylaunched resources Hub will
provide on demand trainingfor patient group leaders.
To equip them with the knowledgeand confidence to advocate
for their communities,Eagan aims to support smaller
patient organisations anddriving change for neglected
conditions througheffective training and support.
(11:40):
In just a moment, wehave another lottery
winner. So keep listeningfor that news. But in
any event, greatstuff for Team Beacon.
Congratulations. You canlearn more about Beacon.
The rare and how youcan access the new hub
on their websiteresourceshub.rarebeacon.org.
Off the back of the Adira conference, wehave an adera book to be published during the
(12:02):
recent adira or Equalityand Diversity and
Research AssociationConference, sponsored by
Couch Health Costello Medical and supportedby Beacon for Rare, it was announced that
there will be aforthcoming book about the
Adira experience. Thiswas announced by Adira.
No chair, Professor AndrewMitchell. Well, we don't know a lot
of details yet. Stay tuned Formore information as it becomes
(12:23):
available and for opportunitiesto participate in a drop,
we'll drop a link to episode17, travelling the road to Adira.
In the show notes.
You may recall that touchen musculardystrophy Awareness Month was
recently we have some more Duchennenews Duchenne UK revolutionary suit
for kids with the charity DuchenneUK in collaboration with Project
Partners and support from NIH, RCYP and Med Tech have a grant for over.
(12:55):
£1 million from the People's Post Code Lottery Dream Fund to develop a smart.
Suit that provides upper limbassistance for children with Duchenne
muscular dystrophy or spinalmuscular atrophy. The project aims
to improve the everyday livesof these children by creating a
suit that would be comfortableto wear in a significant milestone.
Children with Duchenne havealready tried an early prototype and
(13:16):
provided valuable feedback to enhancethe design. The team at Duchene UK.
More with their expert partners,including NIH, R CYP, Medtech,
MEDIPIX and NIH R Devices fordignity and the Medtech Cooperative are
working toward commercialising thesmart suit and exploring avenues to
make it widely accessible to asmany children with the condition as.
(13:37):
Possible the devastatingimpact of losing upper
body strength for childrenlike Eli, who lives with
Duchenne musculardystrophy, is highlighted by
Duchenne UK founder andElie's mother Emily Rubin.
Activities that may manymay take for granted, such as
feeding oneself, brushingteeth, raising hands in class, can
become impossible. Withthat assistance, this might suit
project aims to address thesechallenges and empowered.
(14:01):
NIH R CYP Medtech is playing a crucial rolein identifying market opportunities and
mapping the ideal routeto market and exploring
the mechanisms toensure availability of
the suit focuses onintellectual property,
strategy and designand the goal of achieving
freedom to operate and maximising the suite'simpact on the lives of children with due.
(14:22):
Pompey disease patients dying fortreatment in India several rare disease
patients in Hyderabad, including sevenmonth Old Khana Rudraksha have died
while waiting for clearance of a ₹3million central fund that would have
supported treatment for Pompeydisease. The delay in obtaining clearances.
From the Ministry of Health andFamily Welfare Committee has
(14:43):
resulted in the loss of lives andfinancial struggles for patients.
The policy for rare diseasesintroduced in 2021 allocates ₹5 million
as a one time fund for each raredisease patient, but many are still
awaiting financial support. Theclearance process is time consuming
involving evaluations and theprocurement of imported medications.
(15:05):
Causing further delays and challenges for patients in accessing necessary treatments.
And one more story in the newsfor the global rare community,
a social media clean influenzais young son hospitalised with
Kawasaki disease cleaninfluenza. I think that's a new social
media term Sophie Hinchcliffeknown on social media as Mrs Hinch.
(15:30):
Recently shared that her three-yearold son Ronnie has been diagnosed with
Kawasaki disease after being rushedto hospital with serious symptoms.
Kawasaki disease is arare and serious condition
which primarilyaffects children. It is
characterised by inflammationof the blood vessels,
including those supplyingblood to the heart.
The cause of the diseaseis not fully understood,
but it is believed to begenetic, environmental and
(15:51):
immunological. All ofthese factors, converging the
signs and symptoms, typicallyappear in phases and may.
Include high and persistent fever.
Redness, swelling ofthe hands, feet, rash,
bloodshot eyes, swollenlymph nodes, and peeling
of the skin. If left untreated, the diseasecan lead to serious arterial complications.
After receiving treatment,Nanny was able to
(16:11):
return home, but theexperience has had an impact
on the family. Mrs Hinchhas shared her gratitude
to the hospital staffand has appealed to the.
Look for awareness and supportfor Kawasaki disease, emphasising
the need for future understandingand research into the condition.
Well, I don't know about youfolks, but this episode feels like
(16:32):
it has been jam packed withinformation from our global community.
If you have news, events, webinars orother projects that you want to signalise,
reach out to me. e-mail me atkimberly@dazlethenumber4rare.net. That's dazzle.
Square.net.
Also dazzle for rare 2023 is quicklyapproaching. We have 11 confirmed Co host,
(16:53):
but we're waiting for so many more of youto accept your Facebook event invitation.
If you're unsure how to co-host or how youcan participate, reach out to us in a member
of Team Dazzle,Carrie Titina or I will get
back to you. We can'twait to see more of you.
Register for this year's event on Dazzle forrare.net/participate so that you can have
(17:14):
total control over your information, contactdetails and messages right there on the.
Site no need to e-mail me yourmessage or ask me to make changes
as you can do that all yourselfright there on the website.
It's easy to do and takesonly a few minutes. We look
forward to sharing more infosoon on ways to participate in
potential live streams comingup during the event week, so
(17:34):
don't miss a beat. Subscribeto the podcast to stay up to date.
In the event and Co host as they join.
Thanks for listening tothis week's episode of
Signalise, a Dazzle forour podcast. To stay up
to date on the podcastand Dazzle for air,
follow us on Facebook,Instagram, and Twitter at.
(17:57):
DAZL.
E the number 4 rare,RARE, and finally, if you
liked this episode,share it with a friend.
And tag us on social media platforms.
Hi I'm your host, Kimberly Thomas tag andyou're listening to signalise dazzle for
(00:03):
our podcast. Whether you're a patientadvocate, caregiver, or clinician, signalise as
your source for good news, personal stories,events, and the things that rare and
associated communitiescare about, follow
signalise and dazzle frereat DAZLE the number 4.
RARE on Facebook, Instagram and Twitter, where we'll post episode links updates.
(00:28):
Welcome to this week's episode ofSignalise, a Dazzle for our podcast bringing
you the TLDR on the latest in theworld of rare and associated conditions.
This week, we'll be discussing what'shappening in the realm of awareness,
highlighting both rare and non rareevents spotlighting upcoming conferences.
And a quick fire roundup of global newsin the rare and associated communities
(00:50):
around the world. And let's notforget your dazzle for rare 2023 info.
So strap in, get your favouritebeverage or snack and
let's do the darn thing. What'sup in awareness for July?
1st we have fragile XSyndrome Awareness Month
dedicated to spreadingawareness and providing support
to families affected bythis rare syndrome. Fragile
X syndrome caused bya mutation to the F MRI.
(01:15):
Pain can lead to long term intellectual disability.
According to the CDC, FXS is caused by changes in thegene called Fragile X Messenger ribonucleoprotein or FMR
1 FMR 1 usually makes aprotein called FMRP that is needed
for brain development.Folks with this gene mutation.
(01:39):
Do not make thisprotein. Also there is a
dedicated FX awarenessday 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 aboutthese two awareness months on our
(02:01):
dazzle for rare awareness calendar.That's tough to say, head over to.
Dazzle4thenumberfourrare.net/awarenessunderscore days
on the 23rd of July we haveWorld Castleman syndrome.
According to Castleman, Diseasecollective Network CD CN this day
is an amazing opportunity forCastleman C's advocates worldwide.
(02:25):
Patients, loved ones,physicians and researchers to
come together to fightagainst Castleman disease. To
continue to support patientscurrently living with Castleman
disease, and to rememberand honour those patients.
Shield last World CD Day willcontinue to be one day a year for
patients, loved ones, physicians andresearchers across the world to come
together and unite in the fightagainst this disease. A day where we
can all show solidarity and ourcommitment to taking this disease down.
(02:52):
On the 23rd we have World ShogunSyndrome Day. The good folks at Shogren's
Foundation are interested in raisingmuch needed awareness for this condition.
It is marked every year on the 23rd, thebirthday of Doctor Heinrich Shogren. The Swedish
ophthalmologist who discovered Shogrensyndrome on the 25th. We have Jansen's disease.
Awareness in India.
(03:14):
What is Janssen syndrome? Well, accordingto the nih.gov at Jansen's Metaphyseal
Chondrodysplasia or JMC is an ultra rare diseaseof 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.
(03:38):
And also in the kidneys.
On the 31st of July, we haveacute necrotizing capsulitis
awareness Day or A&E AwarenessDay. The gals at A&E International.
Kim and Rachel havedone so much not only for the
global A&E community,but also for the Dazzle.
Over the last few years, we'realways happy to share their
messages of hope, support andadvocacy for the families facing.
(04:00):
A&E.
At any stage.
Civilised any can be fatal, and thosewho survive this encephalitis are left with
serious long termeffects, according to the
A&E website acuteequalising encephalopathy,
as described by guard in the UnitedStates, is a rare disease characterised by
brain damage, or encephalopathy, thatusually follows an acute febrile disease.
(04:21):
Mostly viral infections. Thesymptoms of the viral infection, such
as fever, respiratory infectionand gastroenteritis, among others,
are followed by seizures,disturbance of consciousness that may
rapidly progress to a coma, liverproblems and neurological deficits.
Now we have some non rareawareness. The National Minority Health
(04:42):
Awareness Month is also in July.Mental health is as important as what we
traditionally think of as ourphysical health. The two are intimately
intertwined, often exacerbatingone another when stress depression.
Other things popup in life, no in-depth
conversation about raredisease is truly complete
(05:04):
without acknowledgingthe impact of environmental
and situationalstressors in our lives.
With that said, againJuly is national minority
mental Health AwarenessMonth. According
to the Health and Human Services Departmentin the US this month is observed each.
To bring awareness to the uniquestruggles that racial and ethnic
minority communities faceregarding mental health and Wellness
(05:25):
issues in the US, accessingmental 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 toaccess may come down to
your geographic locationin the United States,
Community support andservices, and your own
financial maintenancenow is a good time as
(05:46):
any to have an open dialogue about how thepandemic and other isolating factors such as
virtual workspacesand other non traditional
settings have impactedthe mental health of folks.
With all the blessings of technologyand innovation, there's also
many issues that need to beaddressed in an open and honest manner.
While national minority mentalhealth awareness may not be
(06:09):
rare, it is just as importantas any other awareness event.
The guys, gals and non binary pals inour lives who intersect with communities
of colour and other minority groupsdeserve our combined support to help us.
We all live healthier lives in as many ways as we can.
The Big Listen dayhappens on the 24th of July
annually and this is incelebration of the Samaritans.
(06:31):
But who are the Samaritans in the UK? To paraphrase astatement from the official Samaritans UK website, whatever
you're facing, a Samaritan will face it with you every10 seconds. Samaritans respond to a call for help.
Or here day or night, foranyone who's struggling to cope.
Who needs someone to listento without judgement or pressure.
We offer listening and support to people andcommunities and times of need, every life
(06:53):
lost to suicide is atragedy and the Samaritans
vision is that fewerpeople die by suicide.
That's why we work tirelessly to reachmore people and make suicide prevention a
priority. While many may think of theSamaritans as the suicide prevention hotline.
We offer so much more.
If you're struggling with any life issueor stressor, there is someone available
(07:15):
24/7 to talk you through the momentwith compassion and without judgement.
There are great resourceto folks in a time of need
or crisis, which is whyI'm including them here.
Not only is the servicethey offer a great value
to folks in the UK, butalso a reminder that.
Wherever you are.
In the world, there is someone willing to listen.
To what you're dealing with, andthere are so many good Samaritans
out in the world for each andevery one of them, I'm very grateful.
(07:39):
Next we have some offlineand online stuff coming
up. We have the raresummit in October of 2023.
I am just giving you all someadvance notice because if
you're like me, you will hearthis and still forget to grab
your tickets. Procrastinators,unite this year, Cam rare
rare summit will be takingplace on the 12th of October.
Then the event brings togetherover 300 mines in rare disease. Get
(08:02):
your tickets on camraredisease.organd be ready to make new Connexions.
Brainstorm with other rareadvocates and leaders and
debate what's possible inour communities in an open
and safe environment.Again, you can find more
information and get yourtickets from camraredisease.org.
Word and now we have a little informationfrom the health union, formerly Wego health.
(08:23):
The Health union will be hosting theirannual social health connexion conference.
The conference isdescribed as being for health
leaders. Folks can engagevirtually, which I love.
On the 25th and the 26th of July, it's an opportunity to connect with other leaders.
In the URCID space orundiagnosed rare, chronically,
invisibly ill and disabledspaces, and according to the
(08:45):
health Union website, theywill have sessions on health,
leadership and creating orredefining 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 withthe Social Health Awards ceremony
honouring the health leadersacross all condition areas
(09:05):
and platforms, and a note onthe Social Health Awards. The
judging has begun. Nominationsand endorsements are now closed.
So all we can do is wait for the social health connexion conference coming up.
Fighting of the rare isan upcoming documentary
highlighting thesignificance of biomedical
research and discovering treatments for rarediseases, specifically focusing on lefora
(09:28):
disease, a rareneurodegenerative condition
through compellingtestimonies from researchers,
patients, and theirfamilies, the documentary
sheds light on theongoing efforts to unravel.
The mysteries of this raredisease look out for the release on
the 26th of June 2023. Ontheir website fightingtherare.com.
(09:49):
And another piece ofrare disease media is take
care of Maya, a Netflixdocumentary. The documentary
take care of Maya, tellsthe story of Maya Kowalski
and her family's battlewith a rare condition.
The film explores Maya's journey fromadmission to hospital to her parents, fight
to bring her home, shedding light on thechallenges faced in the healthcare system.
Mayor's condition, suspected tobe complex regional pain syndrome,
(10:11):
known as CRPS, led tocontroversial treatments and ultimately
resulted in her mother's tragicdeath. Now 17, Maya continues to
experience severe pain and herfamily has filed A lawsuit against the.
Hospital. This documentary is available on Netflix UK, startingthe 19th of June. However, cheque listings where you are located to
find out when this newdocumentary will be available to you.
(10:32):
According to Nord, CRPS affectsapproximately 1 and 200,000 Americans.
Yee Haw. We have a littlebit of a rare news Roundup, so
here's the hops in the rareand associated communities.
Right now we are celebrating Beacon forrares birthday and their news. The good folks
(10:56):
at Beacon have a 10th anniversary comingup in July, so congratulations to them.
It's a big month as they also have arebrand launching and have received some
funding from the National Lottery. Beaconhas received almost £405,000 in funding.
For three years from theNational Lottery to support
its empowerment programmefor rare disease patient.
(11:17):
The funding will enableBeacon to expand its programme
offering accessible andinclusive in person, online
and hybrid events. The newlylaunched resources Hub will
provide on demand trainingfor patient group leaders.
To equip them with the knowledgeand confidence to advocate
for their communities,Eagan aims to support smaller
patient organisations anddriving change for neglected
conditions througheffective training and support.
(11:40):
In just a moment, wehave another lottery
winner. So keep listeningfor that news. But in
any event, greatstuff for Team Beacon.
Congratulations. You canlearn more about Beacon.
The rare and how youcan access the new hub
on their websiteresourceshub.rarebeacon.org.
Off the back of the Adira conference, wehave an adera book to be published during the
(12:02):
recent adira or Equalityand Diversity and
Research AssociationConference, sponsored by
Couch Health Costello Medical and supportedby Beacon for Rare, it was announced that
there will be aforthcoming book about the
Adira experience. Thiswas announced by Adira.
No chair, Professor AndrewMitchell. Well, we don't know a lot
of details yet. Stay tuned Formore information as it becomes
(12:23):
available and for opportunitiesto participate in a drop,
we'll drop a link to episode17, travelling the road to Adira.
In the show notes.
You may recall that touchen musculardystrophy Awareness Month was
recently we have some more Duchennenews Duchenne UK revolutionary suit
for kids with the charity DuchenneUK in collaboration with Project
Partners and support from NIH, RCYP and Med Tech have a grant for over.
(12:55):
£1 million from the People's Post Code Lottery Dream Fund to develop a smart.
Suit that provides upper limbassistance for children with Duchenne
muscular dystrophy or spinalmuscular atrophy. The project aims
to improve the everyday livesof these children by creating a
suit that would be comfortableto wear in a significant milestone.
Children with Duchenne havealready tried an early prototype and
(13:16):
provided valuable feedback to enhancethe design. The team at Duchene UK.
More with their expert partners,including NIH, R CYP, Medtech,
MEDIPIX and NIH R Devices fordignity and the Medtech Cooperative are
working toward commercialising thesmart suit and exploring avenues to
make it widely accessible to asmany children with the condition as.
(13:37):
Possible the devastatingimpact of losing upper
body strength for childrenlike Eli, who lives with
Duchenne musculardystrophy, is highlighted by
Duchenne UK founder andElie's mother Emily Rubin.
Activities that may manymay take for granted, such as
feeding oneself, brushingteeth, raising hands in class, can
become impossible. Withthat assistance, this might suit
project aims to address thesechallenges and empowered.
(14:01):
NIH R CYP Medtech is playing a crucial rolein identifying market opportunities and
mapping the ideal routeto market and exploring
the mechanisms toensure availability of
the suit focuses onintellectual property,
strategy and designand the goal of achieving
freedom to operate and maximising the suite'simpact on the lives of children with due.
(14:22):
Pompey disease patients dying fortreatment in India several rare disease
patients in Hyderabad, including sevenmonth Old Khana Rudraksha have died
while waiting for clearance of a ₹3million central fund that would have
supported treatment for Pompeydisease. The delay in obtaining clearances.
From the Ministry of Health andFamily Welfare Committee has
(14:43):
resulted in the loss of lives andfinancial struggles for patients.
The policy for rare diseasesintroduced in 2021 allocates ₹5 million
as a one time fund for each raredisease patient, but many are still
awaiting financial support. Theclearance process is time consuming
involving evaluations and theprocurement of imported medications.
(15:05):
Causing further delays and challenges for patients in accessing necessary treatments.
And one more story in the newsfor the global rare community,
a social media clean influenzais young son hospitalised with
Kawasaki disease cleaninfluenza. I think that's a new social
media term Sophie Hinchcliffeknown on social media as Mrs Hinch.
(15:30):
Recently shared that her three-yearold son Ronnie has been diagnosed with
Kawasaki disease after being rushedto hospital with serious symptoms.
Kawasaki disease is arare and serious condition
which primarilyaffects children. It is
characterised by inflammationof the blood vessels,
including those supplyingblood to the heart.
The cause of the diseaseis not fully understood,
but it is believed to begenetic, environmental and
(15:51):
immunological. All ofthese factors, converging the
signs and symptoms, typicallyappear in phases and may.
Include high and persistent fever.
Redness, swelling ofthe hands, feet, rash,
bloodshot eyes, swollenlymph nodes, and peeling
of the skin. If left untreated, the diseasecan lead to serious arterial complications.
After receiving treatment,Nanny was able to
(16:11):
return home, but theexperience has had an impact
on the family. Mrs Hinchhas shared her gratitude
to the hospital staffand has appealed to the.
Look for awareness and supportfor Kawasaki disease, emphasising
the need for future understandingand research into the condition.
Well, I don't know about youfolks, but this episode feels like
(16:32):
it has been jam packed withinformation from our global community.
If you have news, events, webinars orother projects that you want to signalise,
reach out to me. e-mail me atkimberly@dazlethenumber4rare.net. That's dazzle.
Square.net.
Also dazzle for rare 2023 is quicklyapproaching. We have 11 confirmed Co host,
(16:53):
but we're waiting for so many more of youto accept your Facebook event invitation.
If you're unsure how to co-host or how youcan participate, reach out to us in a member
of Team Dazzle,Carrie Titina or I will get
back to you. We can'twait to see more of you.
Register for this year's event on Dazzle forrare.net/participate so that you can have
(17:14):
total control over your information, contactdetails and messages right there on the.
Site no need to e-mail me yourmessage or ask me to make changes
as you can do that all yourselfright there on the website.
It's easy to do and takesonly a few minutes. We look
forward to sharing more infosoon on ways to participate in
potential live streams comingup during the event week, so
(17:34):
don't miss a beat. Subscribeto the podcast to stay up to date.
In the event and Co host as they join.
Thanks for listening tothis week's episode of
Signalise, a Dazzle forour podcast. To stay up
to date on the podcastand Dazzle for air,
follow us on Facebook,Instagram, and Twitter at.
(17:57):
DAZL.
E the number 4 rare,RARE, and finally, if you
liked this episode,share it with a friend.
And tag us on social media platforms.
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