Crohn’s & Colitis Australia’s Post

🚵♂️ Meet one of our returning riders: Terri Gelberg! Terri shared with us why she rides for Team CHIbra: "I am proud to ride with Team CHIbra once again, recognizing the vital importance of supporting research for hyperinsulinism. This ride is especially meaningful for me to ride alongside, and honor, Dr. Charles Stanley. Dr. Stanley's groundbreaking work significantly advanced the understanding and treatment of hyperinsulinism during his career. By supporting this cause, we continue to build on his pioneering efforts, honor his legacy, and make a difference!" You can support Terri's fundraiser for HI research at https://lnkd.in/eXEiFPGa 🚲️ The Million Dollar Bike Ride is tomorrow, June 8 in Philadelphia, PA, and for the 11th year, we are raising funds for congenital hyperinsulinism research! ‼️ 💙 Your donations to CHI this month will go even further - The University of Pennsylvania will match the first $30,000 of our donations. CHI is raising funds to address the critical need for research for diagnostic tests to increase timely diagnosis of HI, tools for better management, new treatments, and, one day, a cure. #hyperinsulinism #raredisease #congenitalhyperinsulinism #hypoglycemia | Hyperinsulinism | Congenital | HI | Hypoglycemia | Rare Disease

"To live a healthy life, is something we all deserve, we need every type of person represented in health research” Frustrated by the lack of diverse representation in health research? Discover why your involvement matters and how you can make a difference. #BeVisible #HealthResearch #MakingResearchInclusive #INVISIBLE

August 17th is International SLC6A1 Awareness day. A day for sharing knowledge, supporting research and raising funds! This year donations can go even further by sponsoring our Dragon Boat Race. We have a gift match offer that will match the funds raised! Donate or sponsor today, help cure children of this debilitating rare disease https://lnkd.in/eVDSdJ_Z What is #SLC6A1 ? It is a rare developmental and epileptic encephalopathy, or neurodeveloomental disorder. The gene slc6a1 has a mutation causing a loss of function. This means it cannot perform its job which is to code the GAT 1 protein, and transport GABA between neurons. GABA is a very important neurotransmitter, which means it send messages through brain cells. This faulty 'coding' causes a wide range if disabilities including #epilepsy #LearningDisabilities #neurodiversity #speechdelay #movementdisorder #challengingbehaviour #asd #adhd and reduced immunity. Children and adults can be non verbal, tube fed, and require 24 care, or they could be verbal, and able, but with some functional challenges. The spectrum is huge and the future unknown as the faulty gene was only discovered in 2015. Science being funded: Research cells and models available now Natural history study Biorepository Neuronal behaviour Absent seizures and slc6a1 Drug repurposing mRNA precision medicine AAV delivery Zebra fish models Global collaboration We might be rare, but we are MIGHTY, and your funds go a long way to support real work. Work that supports other rare DEEs and NDDs too.

It is crucial that health research represents everyone. Gaining a deeper understanding of diverse health needs and outcomes will lead to better care for all communities.

Such an inspiring project and such a powerful video! Medical research needs representation from people from a wide variety of backgrounds to help with funding prioritization, outcome evaluation, and key decision-making. There is a real imbalance of race, ethnicity, age and socio-economic status in research advocates and participants, and it can only change with your help. The poetry in this video explains why perfectly. I have the pleasure of being on the Scientific Advisory Council at Breakthrough T1D (JDRF) and their Insight and Experience Panel plays a key role in shaping the development of support services and innovative research projects. But that too needs more diversity. If you live with Type 1 Diabetes (or care for someone who does) please consider getting involved - https://lnkd.in/eRAQiV-m.

💡 Did you know? An easy way to become a HOD Hero is by making a recurring, monthly gift!  🎁 Supporters who make recurring gifts fuel our ongoing efforts to learn more about the disease, provide accessible tools for our HOD community, and “keeping the lights on,” so to speak, here at HODA! 🧠 Where your donation goes: -Maintaining our website and educational resources 📚 -Funding vital research, like a reliable mouse model, to help better understand HOD 🐁 -Supporting our all-volunteer operation 🙌 💪 But it’s YOUR support that makes our work possible. Every dollar counts in our mission to pursue meaningful research for HOD… and make HOD history together! 💸 We know that you are likely bombarded with requests to give by many important causes. But we understand — it’s hard enough as it is to keep up with daily financial commitments! That’s why we would like to encourage you to consider a small, monthly donation. Trust us: Whether you can give $5, $10, or even $20 a month, YOU WILL MAKE A DIFFERENCE! 💝 We are a micro-community that needs and deserves your help. Much of our community is disabled with very little income. Every donation helps more than you can imagine! 🦸Ready to make a lasting impact? Set up your monthly donation today and become a HOD Hero! Visit the LINK IN BIO to set up your recurring donation, or go to our website and click “Donate” in the bottom right hand corner to set up your monthly, quarterly, yearly, or one-time donation now. Thank you! #HypertrophicOlivaryDegeneration #HOD #HODHeroes #HODAwareness #MakingHODHistory #NeuroScience #Community #MonthlyGiving #Donation

My team (NF Nerds RNSH) is fundraising for Steps Towards a Cure 2024 This May, I'm trying to walk 150KM for the 150 children born with NF in Australia each year! I'm participating in Steps Towards A Cure in support of the Children's Tumour Foundation (CTF) and those impacted by neurofibromatosis and schwannomatosis (NF) in Australia. More than 13,000 people across Australia are impacted by this rare and complex genetic condition that causes tumours to form around nerves, under the skin and deep in the body. Progressive and unpredictable, these tumours can lead to physical differences, blindness, deafness, learning difficulties, chronic pain, scoliosis and in 10% of people living with NF, they can become cancerous. There is no cure and treatment options are limited. Every 3 days a child is born with NF in Australia, but they will need a lifetime of support. I'm stepping up for NF because I believe tumours should never be a person’s normal. I have a goal to raise {$500} to grow awareness of this condition and raise funds for much-needed research into more effective treatments – and eventually, a cure. Please support me, because together, small steps can be transformed into huge strides in the advancement of care for those living with NF. Donate at https://lnkd.in/g-nMVsTp Every one of us can make a difference, and every dollar brings us a step closer to rewriting the story of NF.

We’re getting there! Help us get to $10,000 so we can double matched!! Turning our overall donation into $40,000. Thank you to everyone who has contributed to the Heart Healthy Development matching fundraiser in support of research being done at the Alberta Children's Hospital Research Institute. The number of babies born with heart defects has been on the rise in Alberta over the last decade. Congenital Heart Defects (CHDs) almost always lead to lifelong illness and often require emergency surgical intervention shortly after birth. Sadly, CHDs are also the leading cause of newborn mortality. What if there was a simple blood test that could lead to earlier diagnosis, potential treatments or even preventative interventions? Researchers at the Alberta Children’s Hospital Research Institute believe answers may be found – not in the heart itself – but in the genes of the placenta. Donate or learn more here https://lnkd.in/gmYBkQQX Alberta Children's Hospital Foundation

👀 What an eye-opening experience! 🩺After attending the webinar about Diagnosis Of Rare Diseases, by RD-Portugal with The Ordem dos Farmacêuticos, I had the privilege of meeting Ana Rita Moreira and Luis Miguel Oliveira. Dani's parents, a really cute boy who has, unfortunately, been diagnosed with a rare disease caused by a v-ATPase genetic disorder, which causes developmental and epileptic encephalopathy. A condition that has no known treatment, and is very limiting for children. 👫 As strong-fighter parents who couldn't consent to the lack of knowledge and medical support for their child, they founded the v-ATPase Alliance Association, uniting families affected by v-ATPase genetic disorders, and promoting treatment research and development. 🔬 It is with great honor and enthusiasm that I have become part of this research group, aiding in the search for a treatment discovery! In collaboration with RARE-X, we are starting to build an innovative Data Collection Program 📚 that will allow us to advance research , therapy, and drug development. 💊 🙍♀️ This is a really debilitating condition, where children and their families face enormous daily challenges. If you want to help this mission feel free to share this program or give a kind donation. 🤲🏼 https://lnkd.in/dmjT2QZX 🧬 v-ATPase Alliance: https://lnkd.in/dbDMUvZe

I’m just over a week away from riding in my 24th consecutive Bike MS to support the National MS Society. My goal is to raise $10,000, and so far I have raised about $3,500. Although I don’t have a personal or family connection (that I’m aware of) to multiple sclerosis, I’ve met so many inspiring people over the years who live with MS that are the reason I continue to ride. Our goal in Bike MS is to raise money so that we can cure MS and enable those affected by MS to live their best lives. That’s why I am coming to you today. For those of you who may not know, Multiple Sclerosis is an autoimmune disease that affects 1 million Americans and millions more worldwide. MS attacks the central nervous system comprised of the brain, spinal cord, and optic nerves. The immune system mistakenly attacks the myelin sheath around nerve cells, dusrupting the passage of nerve signals from the brain to the rest of the body. It’s kind of like a damaged electrical wire that causes short circuits. In this case it can lead to a whole host of symptoms like optic neuritis, fatigue, gait problems, balance issues, bladder control issues, with significant impairment if the disease progresses. Why am I asking for your donation? The National MS Society has led the worldwide effort to discover new drug therapies and enable physicians to diagnose MS faster so patients get on the right treatment regimen more quickly to slow or stop progress of MS. When I initially got involved in 2001, only a handful of MS drugs existed…today there are more than 20 that manage all forms of MS with more on the way…thanks to funds raised through Bike MS. We need your support to continue the momentum and propel us closer to a cure. Every donation you make - from $10 to $1,000 - will add up and make a difference. Supporting the cause will take no more than 5 minutes of your time, and it will make a huge impact in the lives of people living with multiple sclerosis. Thank you for your support to help stop MS in its tracks! https://lnkd.in/e-8fwcR6