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NPUK
เข้าร่วมเมื่อ 24 ก.พ. 2017
We are a charitable organisation dedicated to making a positive difference to the lives of those affected by Niemann-Pick diseases. At NPUK our goal is to raise much needed awareness, provide practical and emotional support, advice and information and facilitate research into potential therapies.
We are a small charity with less than five hundred members, the work we do is funded entirely through fundraising activities and successful grant applications. Our strength, therefore, comes from the dedication of our much valued families, members, benefactors and volunteers who work with tremendous effort and loyalty in support of the charity.
We are a small charity with less than five hundred members, the work we do is funded entirely through fundraising activities and successful grant applications. Our strength, therefore, comes from the dedication of our much valued families, members, benefactors and volunteers who work with tremendous effort and loyalty in support of the charity.
ASMD Animated Explainer | Wim Porto-Carrero | BOKS
Learn more about ASMD Niemann-Pick Disease with this short yet dynamic animated explainer video!
With huge thanks to the Belgische Organisatie voor Kinderen en Volwassenen met een Stofwisselingsziekte V.Z.W, and Chairman Wim Porto-Carrero for kindly developing this fantastic animated explainer and allowing our community to benefit from the information provided. It is just one way in which our membership with the International Niemann-Pick Disease Alliance (INPDA) continues to strengthen our shared goals positively!
We hope you get benefit from this video, however if you have any further questions or queries please either visit our website, here: www.npuk.org or email us on info@npuk.org and we will be happy to help.
You can learn more about BOKS, here: boks.be/nl/
With huge thanks to the Belgische Organisatie voor Kinderen en Volwassenen met een Stofwisselingsziekte V.Z.W, and Chairman Wim Porto-Carrero for kindly developing this fantastic animated explainer and allowing our community to benefit from the information provided. It is just one way in which our membership with the International Niemann-Pick Disease Alliance (INPDA) continues to strengthen our shared goals positively!
We hope you get benefit from this video, however if you have any further questions or queries please either visit our website, here: www.npuk.org or email us on info@npuk.org and we will be happy to help.
You can learn more about BOKS, here: boks.be/nl/
มุมมอง: 252
วีดีโอ
The Impact of Dysphagia | Glynn Brown | Azafaros | NPUK
มุมมอง 20611 หลายเดือนก่อน
In a special promotional video for Niemann-Pick Awareness Day (Thursday, 19th October 2023) we are proud to share the following video featuring Glynn Brown (age 35, NPC) which explores the impact of dysphagia on his day to day life and the ways in which he stays positive despite his challenges. Thank you to Glynn for being so open and honest, and also to Azafaros who kindly supported the creati...
A Rare Disease Webinar: What is a placebo in a rare disease trial?
มุมมอง 66ปีที่แล้ว
We are pleased to share the following recording of yesterday's evening's collaborative rare disease webinar hosted by the Cure and Action for Tay-Sachs - CATS Foundation and Niemann-Pick UK. In this webinar, potentially the first in a long series, you can learn more about what a placebo is and why it is included in rare disease clinical trials for both GM2 and Niemann-Pick. This episode feature...
NPUK: Awareness Projects
มุมมอง 65ปีที่แล้ว
We are proud of the collaborative awareness campaigns you have helped create over the last decade! From Imagine to Invisible Interviews, we have been working to bring our community's stories to life and to raise further awareness of Niemann-Pick disease and rare conditions more broadly. We feel work like this has to be ongoing to ensure we are always kept in the conversation and that the focus ...
Ella Scowcroft | Getting to know our NPUK Volunteers | Niemann-Pick UK
มุมมอง 116ปีที่แล้ว
As a small charity Niemann-Pick UK (NPUK) relies hugely on the support and kindness of volunteers and fundraisers to be able to continue the important work we have been doing for over thirty years...volunteers like Ella Scowcroft, who has been supporting us along with valued members of her family for many years now! In the following video we hear directly from Ella at last year's NPUK Annual Fa...
The Impact of BBC Children in Need | Care & Support Team | NPUK
มุมมอง 400ปีที่แล้ว
In 1999 a grant from BBC Children in Need first enabled NPUK to employ a dedicated Clinical Nurse Specialist (firstly Jackie Imrie and since 2012, Laura Bell)...a truly invaluable post has been supported by consecutive grants from BBC Children in Need, making an incredible difference to the care and support received by patients, families and friends across the UK. In these increasingly challeng...
"Alec's Story" | Invisible Interviews | Documentary Short Film | INPDA
มุมมอง 802ปีที่แล้ว
We are thrilled to be able to close out our founding member group, Niemann-Pick UK's, short documentary series "Invisible Interviews" with the much anticipated, "Alec's Story". In this collaborative piece, dedicated to Hayley Koujaian (10/8/99 - 3/4/20, NPC), we are given an insight into the Koujaian family's story, and the journey they have had to this point...it's equal parts entertaining and...
The Impact of Dysarthria | Niemann-Pick UK | Rare Disease Day 2023
มุมมอง 567ปีที่แล้ว
In the following video, originally shared as part of our celebrations for Rare Disease Day 2023, National Niemann-Pick Disease Foundation (NNPDF) Board Member Cara Gilmore provides insight into her journey with Niemann-Pick disease type C and the impact of Dysarthria on her day to day life. The video also features Dr. Robin Lachmann (UCL) who gives expert insight into how Dysarthria can be one ...
"Hollie's Story" | Invisible Interviews | Documentary Short Film | NPUK
มุมมอง 574ปีที่แล้ว
In celebration of Rare Disease Day 2023 we are pleased to share "Hollie's Story", the third of four documentary short films narrated by Sheila Reid, which form the "Invisible Interviews" series. In this film we hear from mum Helen and daughter Hollie as they explore their journey as a family with the rare and fatal genetic condition, Niemann-Pick disease type C, as well as their hopes and ambit...
"Nadia's Story" | Invisible Interviews | Documentary Short Film | NPUK
มุมมอง 627ปีที่แล้ว
We are pleased to share "Nadia's Story", the second of four documentary short films narrated by Sheila Reid, which form the "Invisible Interviews" series. In this film Nadia reflects on her journey with the rare and fatal genetic condition, Niemann-Pick disease type C, which affected her son Zayn (28/10/12-10/4/17) and consequently changed her family's life forever. Despite her loss Nadia has d...
"Graham's Story" | Invisible Interviews | Documentary Short Film | NPUK
มุมมอง 3.5Kปีที่แล้ว
We are thrilled to finally be able to share "Graham's Story", the first of four documentary short films narrated by Sheila Reid, which will form the "Invisible Interviews" series. In this film Graham details his journey with the rare and fatal genetic condition, Niemann-Pick disease type C, and explores how it has impacted both his own life, and that of his family. "...Graham is such an incredi...
Gilbert Maguire | Walk 4 Asa | Annual Family Conference & Interactive Workshop 2022
มุมมอง 1.7Kปีที่แล้ว
We met up with Gilbert Maguire once again after he completed his epic #Walk4Asa fundraiser in support of Niemann-Pick UK, which raised over £100k in the process! Gilbert also touched on the motivation behind his fundraiser, in particular his nephew Asa, who is affected by ASMD Niemann-Pick Disease type A. (This video was originally shared at the NPUK Annual Family Conference & Interactive Works...
The Impact of Ataxia | Niemann-Pick UK | Annual Family Conference & Interactive Workshop 2022
มุมมอง 2242 ปีที่แล้ว
In the following video, originally shared at the Annual Family Conference & Interactive Workshop 2022, Jodie Ann O'Grady describes the impact of Ataxia on her son Joshua and explains why there needs to be more awareness of this subject, particularly from clinicians. The video also features Professor Paul Gissen (UCL) who gives expert insight into how Ataxia can be one of the ways in which Niema...
NPUK Care & Support Team | Niemann-Pick UK | Annual Family Conference & Interactive Workshop 2022
มุมมอง 2702 ปีที่แล้ว
Allow us to re-introduce our Care & Support team, who are here to support you, the Niemann-Pick community, in any way they can! In the following video you can hear from Steve, Laura and Louise who were all smiles for the NPUK Annual Family Conference as they let us know a little more about themselves whilst also sharing information about Niemann-Pick disease, the help we offer, and how they cop...
Gilbert Maguire | Walk 4 Asa | Fundraising
มุมมอง 2142 ปีที่แล้ว
Gilbert Maguire's fundraiser has inspired so many both inside and outside of the community, so it was great to touch base and find out more about the epic challenge he has set himself, his family connection to the condition, and his hopes for the future. We are still in awe of his dedication! Gilbert writes: "...shortly after my nephews birth, our beautiful, precious Asa was diagnosed with a ra...
Invisible Manners - Epilogue | Weruche Opia | Niemann-Pick UK
มุมมอง 842 ปีที่แล้ว
Invisible Manners - Epilogue | Weruche Opia | Niemann-Pick UK
Invisible Manners - a short film on invisible conditions | NPUK
มุมมอง 2.8K2 ปีที่แล้ว
Invisible Manners - a short film on invisible conditions | NPUK
Gene Therapy Explained with Dr. Michael Hughes (UCL)
มุมมอง 5044 ปีที่แล้ว
Gene Therapy Explained with Dr. Michael Hughes (UCL)
Niemann-Pick Disease: Similarities & Differences between ASMD & NP-C
มุมมอง 5344 ปีที่แล้ว
Niemann-Pick Disease: Similarities & Differences between ASMD & NP-C
Go Make Memories | Award Winning Short Film
มุมมอง 6K4 ปีที่แล้ว
Go Make Memories | Award Winning Short Film
Alec (21, NPC): NPUK interview takeover
มุมมอง 2224 ปีที่แล้ว
Alec (21, NPC): NPUK interview takeover
Children & Young Person's Activity Programme (NPUK Annual Family Conference)
มุมมอง 1165 ปีที่แล้ว
Children & Young Person's Activity Programme (NPUK Annual Family Conference)
"Shaping Our Future" - Big Lottery Community Fund
มุมมอง 805 ปีที่แล้ว
"Shaping Our Future" - Big Lottery Community Fund
Lads, Dads and Carers [NPUK: Care & Support]
มุมมอง 1015 ปีที่แล้ว
Lads, Dads and Carers [NPUK: Care & Support]
Dr. Emyr Lloyd-Evans: How the NPUK Conference Shapes Research (Cardiff University)
มุมมอง 2465 ปีที่แล้ว
Dr. Emyr Lloyd-Evans: How the NPUK Conference Shapes Research (Cardiff University)
Harvey and the Brave Little Soldiers (Jenny Charman - NPUK)
มุมมอง 1475 ปีที่แล้ว
Harvey and the Brave Little Soldiers (Jenny Charman - NPUK)
Beautiful memory of this little girl full of Invisibility these parents are well-known inspired by their girl Magnificent architecture in this house and Lovely view of their back garden Hollie is now grown-up like a Young teenager she had a really Wonderful life her progress went through in Sweet company 😊 she has to be very Confident to process her challenging work 😂❤😅🎉😢
Nice one Glynn ❤❤
Hey buddy! I cannot wait to give you and your parents a giant hug when I see you this year!
You are very funny Alec.
🤩🤩❤
hey ihave the npc1 type c pleasease cut your please give me a list of the possiebel consuquentes of having the npc1
My daughter has Type B. I pray that she survives into adulthood. NPD is so devastating. You did well with your speaking. 💖
I'm a parent of an NPC patient. The information in this video has helped me understand why my spouse and I don't hear many words from our daughter. Thank you Cara for sharing.
I am from Brazil. My stepdaughter has this disease. Thanks for the content. It has little information for us to inform ourselves
Hello there, thank you for watching but we are sorry to hear you didn't find this patient story informative. May I suggest our website, here: www.npuk.org or perhaps the following video instead: th-cam.com/video/v9YxAWxxuQI/w-d-xo.html We wish you and your family the best: we have links with wonderful support groups in Brazil, so please do stay in touch!
Excellent in unconventional expression of the inner pain of the sufferer and appropriate in guiding others in their reactions and attitudes. In short a little open offered kindness goes such a long way.
Thank you Timothy, very well put and we certainly agree. Appreciate the support!
Awesome job Cara
She's incredible! Thanks for watching
Wow, magnifique, great work! 🤩❤🩹
Thank you, how kind!
I to have a baby suffering with this disease
Amazing work! ❤
thank you for the support!
Special memories of beautiful friends no longer with us
😅 ᴘʀᴏᴍᴏsᴍ
Well done Graham ❤
He did so well! Thanks Meabh
Bless your heart James - and your family. ❤
My baby is diagnosed with NPC Type 2 and she's now 9 months old. How can we take care of her?
Hi there, thanks for getting in touch - we will be happy to provide more information on how you can better support your child during this time. Please contact us at info@npuk.org
@@npuk1991 thanks a lot
@@npuk1991 I regularly follow it.
Hi sir I to have baby suffering with this niemann pick type b disease is there any treatment
巫爸爸巫媽媽你們好偉大哦!經過這麼多的考驗.還能走出來分享.用生命在付出給你的家的小宝貝.你的用心讓全世界都看的到。
Love the music!
Thank you, fantastic work from Scott Ampleford, Badger & Lilliput!
на душе пустота после просмотра...это очень тяжело...мой сын тоже болен NPC....я незнаю как мы жить с этим страшным недугом
Most cases hit mostly Jewish ashkenazi. We automatically get tested for most of the "Jewish" dieases. Doesn't matter if you are Jewish or not u have a responsibility to me as a parent to get tested as most of these dieases are fatal
Meeting Dr Dagba on TH-cam has really been one of the best day of my life after years of suffering I have been finally cured from Heart Disease , Thanks doc God bless you.
Awesome n so capturing xx Love to all ♥
So pleased to have you on this project Craig! We hope Alfie is doing well ♥
@@npuk1991 ♥
Where I can find places for taking care of this disease
Hello everyone, I played Zoey in this when I was 7… I SOUND WIRED 😳😳😳😳😳😳 Not to mention a bad actor
Hi Bodhi-Rae, no way you were fantastic!
we agree! thank you for playing this part and helping us understand@@npuk1991
THANKS FOR SHARING YOUR STORY
Все так реалистично. Буд-то переживаещь все еще раз. Даже не зная языка, все понятно и близко без слов.
Thank you for this my grand daughter was recently diagnosed with this
Hi What was the treatment?
Currently she has had no treatment. We just received miglustat and will be starting this to help slow down her progression. We do a lot of praying on her behalf and all the kids dealing with these diseases and disorders. Jesus has really been our source of healing this far. I pray no one else will have to go through what these kids have been through. May God bless you and have mercy on us all
hy my baby is 2year and you know tretment plieas tel me you have tretment
Very good information!
Thank you so much, sir.
💚
Xxx
Great charity get donating guys xx
Hi my 1year old baby boy suffering from Niemann pick A please share ur knowledge with me
Gurtej Ruprai his gonna die in 5 yrs most can’t survive past 5-6 but I hope u baby boy can be the first to past beyond best of luck❤️
Very good video! I wish this parent the best in life!
Thank you for the information! It is greatly appreciated!
Thanks for the information on Nieman-Pick Type C! It is greatly appreciated!
You are more than welcome! For more information you can also visit: www.npuk.org/niemann-pick-disease/
Very informative! Thank you!
You are welcome, make sure you subscribe for more informative videos!
Hello I am the one who did the interview with John Thank You for letting me do the opportunity to do this Amirah
Hi Amirah! It was great to meet you - we hope you and your family had a lovely day! We will share your video very soon! :-)
Amirah! The video is finally ready - hope you like it: th-cam.com/video/YCGK6jHbPRY/w-d-xo.html
a very good Video. you are so great. together for the figt against Nieman Pick
Thank you Christian, we are stronger together!
together against Niemann Pick und all rare diseases
You are a big inspiration Shona! Me and my whole family have been following you on your team rickshaw adventure! My cousin unfortunately suffers with the same disease and is having a hard time with it at the moment. But watching you is lifting our spirits to raise awareness for this horrible disease. Keep it up girl!