Viljem Julijan Association for Children with Rare Diseases’ Post

A genetic health risk could mean you have a change in your DNA that makes you more likely to develop certain types of cancer, heart disease, neurological disorders, and other common health risks. Genetic testing to identify these risks is life-saving because knowing early can lead to earlier or more frequent screenings. It can even let you know if certain family members may also be at risk of developing these conditions. When you make a donation to HudsonAlpha's Annual Fund, you're supporting programs like the Smith Family Clinic for Genomic Medicine, that offer genetic testing services to help access this important health information. Make a donation by July 31 and your gift will be matched up to $10,000 by Freedom Real Estate and Capital: https://lnkd.in/gQugiifP #genetics #health #risk #annualfund

Double your donation up to $16K through Rare Disease Day, 2/29! curegm1.org/donate (option for no fees with PayPal Giving Fund) Your help is critically important to all those dying due to GM1 gangliosidosis. 10+ years ago, Iris was just about to start kindergarten when our world was completely changed forever and shaken by a fatal diagnosis of GM1 gangliosidosis. Doctors who were uninformed about juvenile GM1 told us that she had over 5-10 years left to live and she's still here, still fighting for every single day and moment. We founded the Cure GM1 Foundation in her honor and in honor of all those suffering from GM1 gangliosidosis. Significant strides have been made. There have been 4 clinical trials since 2019 and there were no trials prior to the creation of Cure GM1. Although only one trial is still running, the remaining trial is in Phase 3, the final stage. Many rare disease programs have been shuttered due to a downturn in biotech and gene therapy. We remain hopeful, but the reality is that this fight continues to evolve. There are still many ways that we can contribute to help, including next generation therapies, newborn screening, continued advocacy, and more. You can help us make a difference! #curegm1 #raredisease #advocacy #birthdays #donate #give #hope #fightforlife #smallactionsbigimpact

TeacherActive are raising money and awareness for the Cystic Fibrosis Trust. Cystic fibrosis (CF) is a chronic and progressive genetic disorder that primarily affects the respiratory and digestive systems. This condition results from mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, leading to the production of thick and sticky mucus. This mucus can clog airways and ducts, causing various complications and affecting the overall health of individuals with CF. 🍋 Donate Today: Your financial support will directly contribute to ongoing research initiatives, medical advancements, and support programs for individuals and families affected by cystic fibrosis. 🌻Spread the Word: Share this post with your friends, family, and social networks. Awareness is a powerful tool, and together, we can reach more people, garnering increased support for this important cause. 💛 Donate Now and Be a Beacon of Hope! https://lnkd.in/ekv5iv_t Your generosity will not only fund critical research but also provide hope and support to those who need it most. Let's stand together, united in our mission to breathe hope into the lives of individuals with cystic fibrosis. #pridepassionpeople #TeacherActive #cysticfibrosis

2/2: 💙 (re-upload) For more information about CTNNB1 rare genetic disease, please visit CTNNB1 foundation & CTNNB1 Connect & Cure foundation websites and make a donation to support our common goal: finding treatment for ctnnb1. Please also visit a profile of my 2.5yo daughter Zofia with CTNNB1 syndrome on Fundacja Polsat website. Donate 1.5% of your ta-x for a purpose of my daughter - KRS: 0000135921, cel szczegółowy: ZOFIA CHEŁCHOWSKA 8434. At this point we are focused on a rehabilitation which should bring Zofia an improvement in mobility, coordination of movements and balance areas. #ctnnb1 #ctnnb1syndrome #CTNNB1Awareness #RareDiseaseAwareness #Hope #raredisease #jeansforgenes

Not sure how this post showed up on my feed, but I can't help sharing it. The family is facing immense challenges, both emotionally and financially, as their child battles brain cancer 😢 . If you can, please consider donating to support this brave young soul. Every contribution, no matter how small, can help alleviate some of the burdens her family is facing and help this little girl get the best possible care. #Support #Community #ChildhoodCancer #Compassion #MakeADifference #cancer #braincancer #softwaredevelopment #softwareengineering #qaautomation #womenengineers #womenintech #linkedintopvoice #tech #swe

Please wish beautiful sweet Iris and rare young lady a wonderful 16th birthday and help us spread awareness for Rare Disease Day! Double your donation up to $16K through Rare Disease Day, 2/29! curegm1.org/donate (option for no fees with PayPal Giving Fund) or https://lnkd.in/gktBZ5Vb Your help is critically important to all those dying due to GM1 gangliosidosis. You can help make a difference. Watch on YouTube: https://lnkd.in/gzYXfVij 10+ years ago, Iris was just about to start kindergarten when our world was completely changed forever and shaken by a fatal diagnosis of GM1 gangliosidosis. Doctors who were uninformed about juvenile GM1 told us that she had over 5-10 years left to live and she's still here, still fighting for every single day and moment. We founded the Cure GM1 Foundation in her honor and in honor of all those suffering from GM1 gangliosidosis. Significant strides have been made. There have been 4 clinical trials since 2019 and there were no trials prior to the creation of Cure GM1. Tragically, only one trial is still running, the remaining trial is in Phase 3, the final stage. To make matters worse, rare disease programs have been shuttered due to a downturn in biotech and gene therapy. We try to remain hopeful, but the reality is that this fight continues and more help is needed. Children and babies are dying while programs are shelved. The science is known on how to help and yet programs are stopped due to money. There are still many ways that we can contribute to help, including next generation therapies, newborn screening, continued advocacy, and more. Thank you. Please kindly share and spread the word. Music by BenSound. #curegm1 #raredisease #advocacy #birthdays #donate #give #hope #fightforlife #smallactionsbigimpact

Please help wish a beautiful sweet and rare young lady a wonderful sweet 16! Double your donation up to $16K through Rare Disease Day, 2/29! curegm1.org/donate (option for no fees with PayPal Giving Fund) or https://lnkd.in/gX6658UM Your help is critically important to all those dying due to GM1 gangliosidosis. You can help make a difference. 10+ years ago, Iris was just about to start kindergarten when our world was completely changed forever and shaken by a fatal diagnosis of GM1 gangliosidosis. Doctors who were uninformed about juvenile GM1 told us that she had over 5-10 years left to live and she's still here, still fighting for every single day and moment. We founded the Cure GM1 Foundation in her honor and in honor of all those suffering from GM1 gangliosidosis. Significant strides have been made. There have been 4 clinical trials since 2019 and there were no trials prior to the creation of Cure GM1. Tragically, only one trial is still running, the remaining trial is in Phase 3, the final stage. To make matters worse, rare disease programs have been shuttered due to a downturn in biotech and gene therapy. We try to remain hopeful, but the reality is that this fight continues and more help is needed. Children and babies are dying while programs are shelved. The science is known on how to help and yet programs are stopped due to money. There are still many ways that we can contribute to help, including next generation therapies, newborn screening, continued advocacy, and more. Thank you. Please kindly share and spread the word. #curegm1 #raredisease #advocacy #birthdays #donate #give #hope #fightforlife #smallactionsbigimpact Music by BenSound

For those of you who don’t know, today is Rare Disease Day. On Rare Disease Day last year (February 28, 2023), the FDA approved Skyclarys (omaveloxolone), the first ever treatment for Friedreich’s ataxia, a rare, progressive, degenerative, life-shortening, hereditary neuromuscular disease. My team, colleagues, and I spent years developing the drug, and our company had many ups and downs over its 21 year history. As many of you know, within a month of us being able to ship drug to patients, we announced that we were being acquired by Biogen for $7.3 billion. Now that I’m retired, I've been spending a lot of my time with FARA, the Friedreich’s Ataxia Research Alliance, which is the main patient advocacy group for FA globally and whose mission is to ultimately cure FA. Since the acquisition, I’ve been working with Kyle to plan and train for a Team FARA trek to Umling La, the highest paved road in the world at an altitude of 19,300 feet. We are planning to cycle from Leh at about 11,000 feet and 100 miles from K2 and summit Umling La, over 200 miles later and 8,000 feet higher. Our cycling team will also include Sean Baumstark, Kyle’s dad and uncle, and two dads who have kids with FA. We have two main purposes for this expedition. One is to raise money for FARA, which made the approval of Skyclarys possible by establishing the clinical trial network for FA that we used, recruited patients for our trial, and sponsored research that showed that our drug could affect the underlying pathophysiology of FA, among other initiatives. We would not have been able to develop Skyclarys without all of the years of effort dedicated by FARA. We are targeting to raise 25% of the annual budget for the global clinical trial network and associated natural history study. The second purpose of the trip is to tell the story of the FA community, starting with the isolation and despair that accompanies a devastating diagnosis. The hope that finding a community brings will then be discussed, and finally the realization of 20 years of effort with the first ever approval for a treatment for FA (Skyclarys). Our fundraising page is in the link below. All donations to FARA, a 501(c)(3) organization, are tax deductible. If you were involved with Reata in any way, I would encourage you to consider donating to FARA and supporting our efforts. Please reach out if you have any questions. FARA fundraising page: https://lnkd.in/guNAtR6F Film’s page: https://lnkd.in/gRPZzFdn

🌟 **World Sickle Cell Awareness Day: Hope Through Progress** 🌍 Today, June 19, we stand together to raise awareness about **Sickle Cell Disease (SCD)**. 💙 🔍 **What is SCD?** SCD is a genetic blood disorder where red blood cells become rigid and crescent-shaped, causing pain, organ damage, and other complications. But there's hope! Advances in care are making a difference. 💪 🌱 **HemotypeSC: A Lifesaver** Meet HemotypeSC—a small, unassuming test strip that packs a powerful punch. At just 7.5mm long, it's a game-changer. This tiny device detects sickle cell disease and trait, allowing for timely intervention and improved outcomes. 🩸 🌎 **Get Involved** Join the movement! Share this post, spread awareness, and support Sickle Forward charity project by donating here https://lnkd.in/gm6RWFp6 Together, we can make a difference. 💙 #WorldSickleCellDay #SCDawareness #HemoTypeSC #gruzdev

Early detection of ovarian cancer dramatically increases survival rates. Learn how you can make a difference and view more information on prevention, symptoms, and support. Consider donating to support vital research: https://lnkd.in/eqEgGWzg #OvarianCancerAwareness