Perth Children's Hospital Foundation’s Post

TODAY is WORD DAY! (World yOung Rheumatic Diseases day) It is the most important date in the calendar for raising awareness that children and young people get rheumatic diseases too. Juvenile Idiopathic Arthritis (JIA) is the biggest rheumatic disease affecting children and young people. In the UK, there are an estimated 15,000 children under the age of 16 living with the condition. Around 1,000 children are diagnosed each year in the UK – that’s around 20 families a week that will hear the news that their child has arthritis. Some will have had to wait a long time for that diagnosis due to the lack of awareness that children can get arthritis too. Together we can change that by raising awareness of childhood arthritis this WORD day. By liking, commenting, and most importantly, sharing, our social posts today you can help raise that vital awareness of childhood rheumatic conditions such as JIA. Because awareness changes lives. Find out more at www.jarproject.org/word And don't miss this evening's WORD day webinar - you can sign up at www.wordday.org #ThinkJIA #AwarenessIsEverything #WORDDay #WORDDay2024 #ChildrenGetArthritisToo #ArthritisAwareness #JIA #JuvenileArthritis #JuvenileIdiopathicArthritis #JuvenileArthritisResearch #Kipo #Arthritis #ChildhoodArthritis #ChronicIllness #AutoimmuneDisease #JARProject #JIAWarrior #ArthritisAwareness #charity #CharitableCause #NonProfit #Donate #Support #causes #KidsWithArthritis #KidsGetArthritisToo #DontBeAloneWithJIA #InstaCharity #RaiseAwareness  #PaediatricRheumatology

I need everyone's help. My granddaughter has severe NKH. We are getting oh so close to trial meds to help her, but need funding. Once the medication is ready, we have to spend several weeks at the Colorado Children's Hospital for treatment & see how it's tolerated. Please, please help us, and help save my granddaughter and many other kids just like her. Click the link and donate or if you can't, please share. https://gofund.me/79cda309 🔴 What is NKH ❓ ✅ Non-Ketotic Hyperglycinemia 🔘 FACTS 🔘 - There are less than 500 known cases in the WORLD. - There are different forms; mild, attenuated, and severe. - Most commonly, children are severely affected. - It is a genetic disease that currently has NO CURE. - NKH causes severe developmental delay, seizures, hypotonia & other issues. - Strange thing to look for if you feel your newborn may be affected: HICCUPS! Sounds crazy, but it's true. - The only funding for the small amount of research that there is, comes through the NKH families. - These children are fighters. - The NKH network of families will NEVER give up on fighting for a cure. We are one. Alone we are rare, but together we are strong. We will do our BEST to spread awareness about NKH in hopes to one day, find a cure. I challenge YOU to share this post. Teach someone about NKH! 🐝 #TeamBraylynn #braylynnsbattlewithnkh #nonketotichyperglycinemia #bumblebee #nkh #raredisease

Today is #RareDiseaseDay 2024 Take 60 seconds and take a read and maybe learn something… 1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. This cheeky face (Not allowed to call her that anymore, she’s a big girl I keep getting told.lol) lives with a rare disease called Tuberous Sclerosis, a genetic condition that causes tumors to develop in the vital organs of the body including the brain, heart, eyes, lungs, and kidneys. It can also cause her to be on the autism spectrum and seizures. Symptoms can vary hugely between cases, with some people not even knowing they have it. Sophie at only 6 has went through more than most people do in a lifetime, Hospital visits every few months, but she is one VERY tough big girl, and showed how tough when she knows she’s to lay awake in an MRI and get a cannula in her arm but not knowing fully why. She is developing, loving school, making friends and showing us hope every day. Nobody knows what is ahead but I can be sure that with awareness on days like today and donations to the official TS Charity, treatments and hopefully a cure is a real possibility one day, just last year a breakthrough topical gel was approved thanks to research by the charity which will help a lot of people. At least two children born each day will have tuberous sclerosis complex. Current estimates place tuberous sclerosis complex-affected births at one in 6,000. Nearly 1 million people worldwide are estimated to have TSC. We are TSC Warriors and we give everything but up!! 🥊 To learn more about TSC visit: https://lnkd.in/e4KCRwd4

Dear Connections, I am Keerthi writing to you today with a heartfelt plea for support on behalf of my Cousin Sister, Preethi who is 12 years old. She has been an integral part of our family and community, and it pains me to see her fighting a fierce battle against Systemic Lupus Erythematosus (SLE) with macrophage activation syndrome (Multi organ attack). Her doctors have recommended a Medications and induction therapy sessions as the next line of treatment, but the cost of the Treatment, which amounts to Rs.25,00,000/- approximately as of now and may increase during her further course of treatment. It is proving to be an immense financial burden for our family. We are currently facing both emotional and financial trauma as we try to gather the necessary funds for this life-saving procedure. I kindly request your assistance in any way possible to support us during this difficult time. Donation Link: https://lnkd.in/gbzKaWEQ #donations #donate #charity #nonprofit #help #fundraising #community #donation #support #giveback #fundraiser #volunteer #givingback #helpingothers #dogood #socialgood #ngo #philanthropy #nonprofitorganization #donationsneeded #change #hope #makeadifference #instagood #causes #toppost #facebook #trending #healing #impactguru #cfbr #fundraiser #childrenfund #childcare #emergencyfund #fundhelp #socialhelp #savelife #autoimmunedisease #foreigndonations #charityfunds #ChildEmergencyFund #KidsCrisisSupport #EmergencyAidForChildren #ChildReliefFund #KidsEmergencyAssistance #ChildrenInNeed #EmergencyForKids #ChildRescueFund #HelpKidsNow #UrgentChildSupport #ChildEmergencyResponse #KidsEmergencyAppeal #CriticalCareForChildren #ChildrenInCrisis #EmergencyReliefForKids #KidsAidInitiative #ChildCrisisRelief #RapidResponseForChildren #ChildrenEmergencyAppeal #SupportChildSurvival

🇮🇳 Today is World Rare Disease Day. Ataxia telangiectasia (A-T) is a rare, genetic and neurodegenerative disease that still has no cure or treatment. It causes progressive physical disability, immunodeficiency, severe respiratory problems and increased incidence of cancer. In each country we have few people affected by A-T, but together there are thousands around the world. For this reason, in 2020 we founded the A-T Global Alliance with charities from other countries, to fight together for research and share concerns: - For all the A-T children who still walk - For all those A-T patients who already use wheelchair - For all those who have already passed away - For those who are not yet diagnosed Could you help us? Donate at https://lnkd.in/gmYpD7xK Please share this post. #ataxiatelangiectasia #ATAlliance #AtaxiaIndia #AtaxiaIndia #aefat #rarediseaseday #rarediseaseday2024 aefat Ataxia-Telangiectasia A-T Society BrAshA-T Ataxia-Telangiectasia @at-childrensproject @at_europe @atleyasam

Today we stand with all those who have a rare disease for #RareDiseaseDay. Juvenile Idiopathic Arthritis (JIA) as a whole is not an official “rare disease” as it affects around 1 in 1000 children (though the most recent estimates are around 1 in 1,600). JIA is actually made up of a group of diseases sharing similar characteristics. If we look at each subtype of JIA in isolation such as Systemic JIA (sJIA) or any of the other types of JIA (polyarticular, oligoarticular, enthesitis-related, psoriatic and undifferentiated arthritis), the definition of rare disease would apply to each of those subtypes. Regardless of the official categorisation, we know that those with JIA face some of the same universal challenges affecting other rare diseases. -Lack of awareness that babies, children and young people can get arthritis leads to delays in diagnosis or misdiagnoses. -Receiving prompt and effective treatment is impacted by the delays in diagnosis. -Families of those affected by JIA often report the social and financial burden of having a long-term condition that many are not aware of. -The variability of living with JIA, which can sometimes be an “invisible illness” can lead to stigma and lack of understanding. -Research needs to be international to ensure that experts, researchers and clinicians are connected – something that we are passionate about to bring us closer to a cure for JIA. Let’s stand with the 300 million people worldwide who have a rare disease and let the world know that rare diseases matter! #JIA #JuvenileArthritis #JuvenileIdiopathicArthritis #JuvenileArthritisResearch #Kipo #Arthritis #ChildhoodArthritis #ChronicIllness #AutoimmuneDisease #JARProject #JIAWarrior #ArthritisAwareness #charity #CharitableCause #NonProfit #Donate #Support #causes #fundraising #philanthropy #KidsWithArthritis #KidsGetArthritisToo #DontBeAloneWithJIA #InstaCharity #RaiseAwareness #ThinkJIA #WordDay2024 #AwarenessIsEverything @rarediseasedayofficial

In the most recent study of 10 women with a history of KD, only one experienced an obstetrical complication of post-partum haemorrhage, which was possibly related to premature re-institution of heparin therapy after delivery (1). This highlights the need for more studies into the management of KD and associated cardiovascular sequelae in order to develop evidence-based guidelines for obstetricians to support the mothers and babies affected by KD. Two women in this study delivered infants that developed KD at two and five months. Both mothers were unaware of the genetic component to susceptibility to KD and were unfamiliar with the characteristic clinical signs of KD because they had no personal memory of their illness in childhood. This underscores the need to improve knowledge of the disease’s genetic risk in people with history of the disease. Read more on the subject here: https://lnkd.in/dKbU6-5u #kawasaki #kawasakidisease #kawasakidiseaseUK #heartawareness #charity #charityfundraising #CharityUk

💙 Join Us in the Fight Against Polycystic Kidney Disease (PKD) 💙 I am reaching out to share a deeply personal cause that is close to my heart. My 18-year-old stepdaughter, Chalese, has been bravely battling Polycystic Kidney Disease (PKD), specifically the rare and severe form known as Autosomal Recessive Polycystic Kidney Disease (ARPKD). PKD is a genetic disorder characterized by the growth of numerous cysts in the kidneys, which can lead to kidney failure and other severe health issues. There are two main types of PKD: 1. Autosomal Dominant PKD (ADPKD): Typically diagnosed in adulthood, affecting about 1 in 400 to 1,000 people globally. 2. Autosomal Recessive PKD (ARPKD): This rare form, affecting 1 in 20,000 children, can be detected in the womb or shortly after birth and often leads to severe complications early in life. ARPKD is particularly challenging, with more than half of children affected experiencing kidney failure by age 15 to 20. Despite these daunting challenges, Chalese continues to show incredible strength and resilience. We are committed to raising awareness and support for those affected by this disease. One significant way you can help is by participating in or donating to the Walk for PKD. This event is crucial for funding research and providing support to families affected by PKD. How You Can Help: • Walk with us: Join the Walk for PKD on Sept 21st in Salt Lake City at Sugarhouse Park at 8:30am. Join our team “Chalese’s Hope”. https://lnkd.in/gprprTuJ • Donate: Every contribution, no matter how small, makes a difference in the fight against PKD. Donate to team “Chalese’s Hope”. https://lnkd.in/gprprTuJ Together, we can make a difference. Thank you for your support! #PKD #WalkForPKD #ARPKD #KidneyDiseaseAwareness #Donate #Support #Health

This LHON awareness day, we’re sharing information about the disease to raise awareness. 🔬 What is LHON? Leber hereditary optic neuropathy (LHON) is a mitochondrial genetic disease that causes rapidly progressing vision loss and is currently estimated to affect between 1 in 30,000 to 1 in 50,000 individuals in the UK. LHON causes progressive loss of vision over time, which can require significant emotional and practical adjustment. Signs and Symptoms of LHON: ● Blurring and clouding of central vision that is needed for detailed tasks, while the peripheral vision may be less affected. ● Loss of colour vision. If you, or anyone you know may be affected by symptoms of LHON, please speak to a healthcare professional as soon as possible to get appropriate advice. There are several organisations and charities across the UK that aim to raise awareness for patients with LHON such as Fighting Blindness, Lily Foundation and LHON society. You can also visit the Chiesi LHON awareness website, https://lnkd.in/emmT8bmQ. #WorldMitoWeek2024 #LHONAwarenessDay UK-CHI-2400730 | September 2024

So here's my face! For those that don’t know the back-story I thought I’d share why I’m raising funds for Rare Disorders NZ over the next two months. If you don't need the story and you're happy to donate right now, please do: https://lnkd.in/g3MqGjCB I’ve got a rare metabolic disorder that has developed into progressive heart disease and over time it will also affect my kidneys and neurological health. In the last few years I’ve been hospitalised, de-fibrillated, operated on and medicated. It has been a tough ride. I share this disorder with two of my brothers and many in my extended family. When we were first diagnosed I was told that there was no treatment available in New Zealand, even though treatments do exist – in fact, my family in Australia receive enzyme therapy under a special scheme. I wondered, why can’t we do that here? In light of this gap I decided, back in 2019 and while I was in hospital having a pacemaker implanted, that the challenge of rare disorders couldn’t be solved one at a time. There are just too many of them for that to work - we know of more than 7000 unique rare disorders and we keep identifying more. I wanted to be involved with a charity that was finding the big answers – one that was looking at how we provide healthcare, education, and community support across all rare conditions because it turns out that, most of the time, what people need isn’t a cure (even though those are nice) – rather, people like me need quality wraparound care. When we get this we can live longer and better lives. I’ve dedicated five years of my life to this goal - so far. I’ve met with three Health Ministers, with Pharmac, with the Prime Minister, and with the Minister for Disabled People. I’ve attended regular meetings with Te Whatu Ora, Te Aka Whai Ora, and the Health Select Committee. I’ve taken part in the review of Pharmac and the development of NZ’s first national Rare Disorders Strategy. I’ve met with clinicians, nurses, and more importantly than anyone else – I’ve met with hundreds of people living (and sometimes dying) with rare disorders - as well as their carers and families. We – the volunteers and staff of Rare Disorders NZ – are making a difference everyday. We do it on the smell of an oily rag. I believe that the kind of work we do should be funded by the health system – not left to people who are already trying to navigate their own complex health journey – but this is where we find ourselves and we won’t give up. I need your help to keep doing this. Walk with me if you can make it on the day of my walk around Maungawhau, Mt Eden (A Rare Kind of Walk - 30th March - details on the givealittle page) Share this story with everyone that you can. And if it’s possible for you right now, please consider donating. https://lnkd.in/g3MqGjCB #RareDisordersMonth #GlowUpShowUp #ARareKindOfWalk