Viljem Julijan Association for Children with Rare Diseases’ Post

Following this sad strory - https://lnkd.in/eXgQtPR6 I thought I would tell you my story - its a factual account of having chronic Haemochromotosis, its tretament and what we are getting wrong with this condition. I was diagnosed 5 years ago with the missing gene that allows the iron levels to build up in your blood. If levels of the iron become overwhelming, the body lays down this iron in various organs like the liver, heart and brain and untreated, this will lead to death. Death not by Haemo but by heart or liver failure etc. Haemo doesnt kill you directly which is why it so often goes undetected. An expert described it to me at the start as a condition where the inherited gene make up was once a great asset - long ago when we were hunter gathereres as it would allow the storage of iron when sources of iron in food where scarce. Think he may have been making this up! Anyway it did make me feel much better! The normal ferritin levels in your blood are around 50 and may extend to 100. Below this you may become anemic and above it you need to have a way to reduce the levels. Or you have Haemochromotosis. Chronic Haemo just means you are royally screwed in that department. My brother has it both my parents had it (although neither knew that) my Aunt had it. And so it goees on. I only discovered I had it by mistake. My reading 5 years ago in 2019 was 4600. They booked me appointments with the vampires that day. I hadnt noticed any symptoms. And I still dont feel any better or worse now than I did then. For the best part of two years, through the Covid, I went on a 4 hour rond trip every week, to the CIU (Clinical intervention unit) in Dunfermline to give a half litre of my blood which was then destroyed. My levels took that long to come down to below 100. I have a strong version of this condition so have to go back most months for more fun - otherwise I would be truly made from girders. Some say it explains my rusty disposition. The nurses are brilliant but the NHS cannot cope with the numbers currently having this treatment and an intiative such as the one in this article will only make things worse. We need to attack the chronic shortage in staff and cash if we want to diagnose and treat this. And as we all know its no good doing one without the other. Maybe there is an easier cheaper way to treat it? There are few side affects to this treatment and it does eventually work. Although as I have removed approx 50 litres of my blood between 2019 and 2021 (the body holds around 8 litres) other elements in the blodd essential to life which with age the body slows up making, are now in short supply. Maybe it would have been better to take the girders and not know about it?

There are more than 10,000 known rare diseases and more than 95% of those disorders have no treatment. But as of last year, Rett syndrome is NOT one of them. Thanks to the decade-long perseverance and commitment of families, researchers, and donors, Rett syndrome is one of the few rare diseases with an FDA-approved treatment. (Source: National Organization for Rare Disorders) Rett is not one-size-fits-all; because Rett syndrome has a broad range of presentations, we need a broad range of treatments and cures. One is not enough, but we have HOPE. With your support, we are able to fund the most promising Rett research - genetic approaches, but also fundamental biology, clinical research, and more - to find solutions for EVERY individual with Rett as quickly as possible. So this October during Rett Syndrome Awareness Month, we invite you to join us in raising awareness and critical funds to find treatments and cures for Rett. Learn more about Rett syndrome and the tools available to support our mission in honor of your loved one with Rett at rettsyndrome.org/october.

📆 World Cancer Day - February 4 - is coming up soon! It will be a new opportunity to raise awareness about Skin Cancer, the leading cause of early and excess death among Persons with Albinism in Sub-Saharan Africa. It will also be an opportunity to remind "global health policy makers" that: ❗Sunscreen for Persons with Albinism is yet to be considered an essential medicine by the World Health Organization (WHO)❗ Last year, the Global Albinism Alliance, together with UN Albinism: Muluka-Anne Miti-Drummond, the 🇺🇳 UN Independent Expert on the Rights of Persons with Albinism, submitted an unsuccessful application for sunscreen🧴for PWAs to be added to the WHO Essential Medicines List, as it is well-known that sunscreen is a very effective preventative product against skin cancer. ➡ As stated by the O'Neill Institute for National and Global Health Law at Georgetown this past December, “Adding sunscreen lotion to the WHO essential medicine list is a human right and a matter of upholding the dignity and well-being of persons with albinism." Read the full statement here: https://lnkd.in/dkVte7Ev 🌐 World Cancer Day is the global uniting initiative led by UICC - Union for International Cancer Control. #Albinism #SkinCancerAwareness #SDGs #WorldCancerDay #HumanRights #SkinCancer #AlbinismAwareness #whoeml

Childhood Cancer Awareness Sunflower Spare Tire Cover, Tire Cover For 15 Inch Tire

💪 An Inspiring and Incredible Story of Hope, published in Science Journal, about Prion diseases and the fight against it. Sonia Vallabh and Eric Vallabh Minikel, are warriors in the Fight Against #Prion Diseases, fatal #neurodegenerative diseases, that can be #genetic and include CJD, FFI, and GSS. Following the tragic loss of Sonia's mother to FFI at the age of 51, and upon discovering she carried the same genetic mutation, the couple decided to pivot their careers towards biomedical science in a quest for a cure. 🔬🧬 They earned PhDs at Harvard, established a lab at the #Broad Institute, and dedicated themselves to prion disease research as patient-scientists. Their pioneering work led to the development of antisense oligonucleotides (ASOs), designed to prevent the expression of the PRNP gene that produces the Prions- the (misfolding) proteins that cause the disease. ✨ This effort culminated in the clinical trial of ION717 by Ionis Pharmaceuticals, aimed at halting the prion disease process in early-diagnosed patients, and is now conducted at more than 10 sites in the world, lately also activated in Israel. Sonia and Eric's journey is a powerful testament to how personal determination can drive scientific progress, offering a new pathway of hope for treating not only prion diseases but also other neurodegenerative disorders like #Alzheimer's and #Parkinson's. 🤝❤️ Their story underscores the critical role of #patientadvocates in advancing research and highlights the broader implications of their work in the battle against neurodegenerative diseases. As a carrier of CJD and activist myself, for advancing the treatment for this horrible disease, and connected with them, I'm excited about their developments, inspired and hopeful for the future. 🙏

September is Sickle Cell Awareness Month!🎗️ and, as an advocate for sickle cell awareness and prevention, I’m committed to helping more people understand this disease and how we can reduce its impact. This September, in honor of Sickle Cell Awareness Month, let me share a story about Bimbo to illustrate what Sickle Cell Disease (SCD) is all about. Bimbo was born with SCD, a genetic disorder that affects the shape and function of red blood cells. Instead of being round and flexible🕳️, Bimbo’s cells are shaped like sickles🌙, blocking blood flow and oxygen in her body. This leads to painful crises, organ damage, and other severe complications. Despite these challenges, Bimbo and others like her live with strength and resilience, managing this lifelong condition with the right care and support. Sickle cell disease primarily affects people of African, Mediterranean, Middle Eastern, and Indian ancestry, but awareness and prevention are crucial for everyone. Genetic counseling and early testing can help reduce the number of children born with SCD (which is my main goal). This month, you’ll here me talk a lot about Bimbo and other warriors like her🌹 Now, take a moment to book an appointment to check your genotype and encourage those around you to do the same. What your mummy told you may not be true. Go and check again! In my next post, I’ll share how Bimbo became a sickle cell warrior and what you can do to make more informed decisions about genetic screening, so you can avoid the challenges that her family faced. #SickleCellAwarenessMonth #SickleCellWarrior #AdvocateForPrevention #GeneticCounseling #PreventionIsKey I’m TallEunice, and I’m all about partnering with you to live a healthy life by simplifying medical jargon!😊

I am proud to be taking part in Uptake’s Rare Disease Day 2024, to raise awareness of some of the rare diseases that are close to us. Our family has been rocked by the effects of Type I Spinal Muscular Atrophy (SMA) which is the most severe form. It is a genetic disorder that affects motor neurons, causing muscle weakness and atrophy. Mobility is severely impacted and can be life threatening.  The diagnosis of Type I SMA causes considerable emotional stress. Parents often face uncertainty and anxiety about their child’s future health and abilities. Hospitals and charities such as Spinal Muscular Atrophy UK provide essential information and emotional support. Genetic counselling is also available, helping families understand SMA's genetic basis and the recurrence risks. Both parents carry the faulty gene so not only is there child suffering, any future child has a 25% risk of the same, the emotional impact for parents and surrounding family is enormous. Treatments have only been available in the past few years, halting disease progression and improving prognoses. Survival rates in SMA patients are now increasing but early diagnosis is key. Our family member sadly lost their 4-month-old daughter in 2019, diagnosis was made too late for any treatment to be possible. They are advocating for screening to be brought in for all infants in the UK to get early access to treatments and improve outcomes for all sufferers. Discover more rare diseases as we mark Rare Disease Day 2024 at: https://lnkd.in/enUAK-zu Source: Spinal Muscular Atrophy UK - SMA Charity (smauk.org.uk) #raredisease #Rarediseaseday #rarediseaseawareness #pharmaceuticals #spinalmuscularatrophy

Today, Shiv, a young boy, messages me on Instagram. He asks me to share a video of a girl who is looking for alternative medicine treatments for her Stage IV cancer. I decide not to share it because I don't want to be the channel for misinformation. I call Shiv and explain that the girl should use chemotherapy to expedite her recovery, while later using #alternativemedicine if she really wants to. Post call, I go out to meet my cousin's family, but eerily, I come back soon. Lying down, I log in to FB after a very long time and in a while, I come across a news clip about a man from #Bangladesh is cancer free by eating a special fruit. Data privacy spotted, but most importantly, I am reminded of the girl. I do some research on the fruit and mesage Shiv again. But since, Shiv isn't available, I take a chance and message the girl directly. She replies, and we talk. She tells me that her cancer started in her colon and then spread to her uterus and ovaries. She had been to the Tata Cancer Research Institute, where she was advised to undergo 18 #chemotherapy sessions. But because her hemoglobin levels is fast dropping, she does't want to do chemotherapy but find alt solution. The demands of empathy made me push aside my scientific skepticism and send her a link to buy the fruit. Then with some offer to be her support in need, I close the call wondering if I could have been more resourceful. What gets me is that she's only 22! Talking to her triggers my thought obsession on life and death. I would really love for her to find a way to beat this cancer. I'm curious if the #corosel fruit, which is considered exotic, will help her. But scientific evidence? Now, why is there no strong scientific evidence? Why is there no monumental research? So many people lose their lives to #cancer in pursuit of natural cure. And if somewhere we have some cue, why don't we take it up for extensive evidence building? Do you know? The concern with anything we intake is our body's acceptance. So, even if you are eager to explore this fruit, be mindful of consequences, such as rashes and allergies. On a side note, whatever information I could provide her thanks to my phone breaching #dataprivacy. Some good use of my not so private data already available everywhere. #dayinthelife

🎗𝗦𝗲𝗽𝘁𝗲𝗺𝗯𝗲𝗿 𝗶𝘀 𝗖𝗵𝗶𝗹𝗱𝗵𝗼𝗼𝗱 𝗖𝗮𝗻𝗰𝗲𝗿 𝗔𝘄𝗮𝗿𝗲𝗻𝗲𝘀𝘀 𝗠𝗼𝗻𝘁𝗵🎗 Most of you know Alba's Acute Lymphoblastic Leukaemia (ALL) journey. It was full of ups and downs, but Alba's courage and resilience still inspires many to this day. As we are heading toward complete remission in 2025, I want to share her story to raise awareness about the early signs and symptoms of leukaemia. Knowing these can make a huge difference in seeking early diagnosis and treatment. Common signs of leukaemia can include: ❗𝙐𝙣𝙚𝙭𝙥𝙡𝙖𝙞𝙣𝙚𝙙 𝙛𝙖𝙩𝙞𝙜𝙪𝙚 𝙤𝙧 𝙬𝙚𝙖𝙠𝙣𝙚𝙨𝙨  ❗𝙁𝙧𝙚𝙦𝙪𝙚𝙣𝙩 𝙞𝙣𝙛𝙚𝙘𝙩𝙞𝙤𝙣𝙨  ❗𝙀𝙖𝙨𝙮 𝙗𝙡𝙚𝙚𝙙𝙞𝙣𝙜 𝙤𝙧 𝙗𝙧𝙪𝙞𝙨𝙞𝙣𝙜  ❗𝙋𝙖𝙡𝙚 𝙨𝙠𝙞𝙣  ❗𝙁𝙚𝙫𝙚𝙧  ❗𝘽𝙤𝙣𝙚 𝙥𝙖𝙞𝙣 𝙤𝙧 𝙩𝙚𝙣𝙙𝙚𝙧𝙣𝙚𝙨𝙨  ❗𝙎𝙬𝙤𝙡𝙡𝙚𝙣 𝙡𝙮𝙢𝙥𝙝 𝙣𝙤𝙙𝙚𝙨  ❗𝙐𝙣𝙚𝙭𝙥𝙡𝙖𝙞𝙣𝙚𝙙 𝙬𝙚𝙞𝙜𝙝𝙩 𝙡𝙤𝙨𝙨 If you or someone you know is experiencing any of these symptoms, please don't hesitate to consult a doctor. Early detection is key in fighting leukaemia. Let's work together to spread awareness and support families like ours. September is also Sunflower Month in support of DKMS Africa. 𝗕𝗲𝗰𝗼𝗺𝗲 𝗮 𝗽𝗼𝘁𝗲𝗻𝘁𝗶𝗮𝗹 𝗹𝗶𝗳𝗲 𝘀𝗮𝘃𝗲𝗿 by registering as a Stem Cell Donor. You could be the match that gives someone with blood cancer a second chance at life. #ChildhoodCancerAwareness #Leukaemia #Leukemia #AlbaTheBrave #Awareness

For all the rare disease researchers who investigate bone marrow failure diseases, you will want to read this! Recently, we had the opportunity to interview Alice Houk, Senior Director of Patient and Professional Services at the Aplastic Anemia & MDS International Foundation (AAMDSIF). AAMDSIF is the nonprofit organization dedicated to supporting individuals affected by aplastic anemia, myelodysplastic syndromes (MDS), paroxysmal nocturnal hemoglobinuria (PNH), and other related bone marrow failure diseases. Interview here (in English and Spanish) ⬇ https://lnkd.in/dk4pgpZr In the interview, Alice acquaints us with the mission, the funding opportunities available for researchers from AAMDSIF, and provides a detailed explanation of the two-step submission process employed by the foundation for applications. Additionally, she offers advice for researchers who are applying for funding! If you are interested in this amazing opportunity from AAMDSIF, we encourage you to read the entire interview with Alice! #AAMDSIF #AplasticAnemia #MyelodysplasticSyndrome #MDS #ParoxysmalNocturnalHemoglobinuria #PNH #RareDiseaseResearch #ResearchFunding #scientifyRESEARCH