Viljem Julijan Association for Children with Rare Diseases

💛A cruel illness has stolen Klemen's childhood and marked his life with an relentless struggle🥺. Klemen is the only child in Slovenia with an extremely rare disease – xq24 UBE2A deletion. Instead of a carefree childhood filled with running through meadows and climbing trees, he is trapped in the world of his rare illness, which has harshly confined him to a wheelchair and taken away the simple joys of childhood💔💔. Klemen was born with numerous severe diagnoses, including profound developmental delays, epilepsy that no medication can control, and a heart defect that, in his short life, has already required two major heart surgeries and numerous postoperative complications. Our little warrior neither walks nor talks, yet he radiates lion-like strength and incredible courage💪💪❤️. At the Viljem Julijan Association, today our hearts are filled with support for our courgeous little fighter Klemen. We are sending him all our love and best wishes, hoping that the remaining summer days will be as beautiful as possible for him❤️. ❤️In support of all little warriors, we invite you to our big charity concert Viljem Julijan for Children with Rare Diseases, on 🗓️October 12, 2024, at 📍Cankarjev Dom in Ljubljana❤️ #ViljemJulijanAssociation #rarediseases #rare #diseases #association #deletionxq24 #awarness #support #love #summer #slovenia

Meet 4-year-old Ema❤️, a little girl who is fighting a deadly rare genetic disease – Cockayne Syndrome Type B (CSB). This cruel disease threatens to steal her the moments like the simple joy of running through a field of flowers, or the excitement of opening birthday presents surrounded by family – the moments that most children take for granted💔. The greatest wish of Ema's parents is for a cure🌟 – the one that could give their little Ema the precious time to grow alongside her brothers, to laugh, to play, and to create memories that will last a lifetime. Ema comes from Croatia, and this is her story, written by her loving and devoted parents❤️: »Ema is a corageous 4-year-old girl from a village near Zagreb. She loves the company of her four healthy brothers who are her greatest support. Diagnosed with the rare and serious Cockayne Syndrome Type B on her third birthday, Ema's journey has been filled with challenges. Her symptoms began when she was just a year old, and the road to finding out what was wrong with her was very long and exhausting for the whole family. The diagnosis was a devastating shock, but it has also made our family stronger, as we stand by Ema, determined to make her life as joyful and fulfilling as possible. Despite all of her hardships – loss of balance, weight loss, difficulty swallowing, and sensitivity to the sun – Ema continues to fight her disease with incredible courage, always wearing a smile that lights up the hearts of everyone around her. She is a true warrior and an inspiration for everyone who meets her.« Ema's fight is a reminder of the profound hope that one day, she and other children with this devastating disease around the world, could have the future they deserve. A future, filled with laughter, love, and the countless adventures yet to come. The Viljem Julijan Association for Children with Rare Diseases has partnered with scientists developing a gene therapy that could offer the hope for Ema and other children with Cockayne Syndrome Type B around the world💪❤️. 🙏Please join us in supporting Ema, Karolina and other children fighting CSB: https://lnkd.in/dCH3PVax #Treatment for Cockayne syndrome type B #GeneTherapy for Cockayne syndrome type B #Cockaynesyndrome #cure #cureCSB #ViljemJulijanAssociation #rare #rarediseases #children #Slovenia #Croatia #Europe #awarness #support

#BRAVO, Nejc! - The youngest child in Slovenia to receive a life-saving treatment for a rare and deadly disease - spinal muscular atrophy (SMA)👏👏❤️ We are all cheering with our whole hearts for our little fighter Nejc, who, at just 23 days old, became the youngest child in Slovenia to receive the gene therapy Zolgensma. Nejc has the most severe form of the genetic disease spinal muscular atrophy, type 1 #SMA1. Not long ago, this condition was completely untreatable, leading to disability and early death💔. Nejc received this revolutionary gene therapy so soon after birth thanks to newborn screening tests that diagnosed him immediately. This victory is also a significant milestone for our organization, the Viljem Julijan Association, as we were instrumental in advocating for the inclusion of SMA in newborn screenings. We are over the moon that this happened, allowing Nejc to receive the treatment that saved his life and promises him a much brighter future💪❤️❤️. At the Viljem Julijan Association we are all rooting for Nejc to make significant progress and eventually walk and run like his peers. Dear little warrior, we are all wishing you all the best!🙏❤️ ❤️To support all our little warriors, we invite you to our grand charity concert Viljem Julijan for all children with rare diseases, on October 12, 2024, at Cankarjev dom in Ljubljana❤️ #viljemjulijanassociation #viljemjulijan #rarediseases #rare #disease #advocate #life #cureSMA #SMA #SMA1 #SMAAwarnessMonth #spinal #genetherapy #treatment #zolgensma #Nejc #Slovenia #Europe #awarness #hope

🙏📣NUJNO-zberimo podpise za ZDRAVILO za naše otroke s kruto redko boleznijo🙏❤️❤️🙏 Prosimo, da delite to objavo🙏 Tjaž, Matej in Tit so nekateri od otrok v Sloveniji, ki imajo zelo hudo in smrtonosno redko genetsko bolezen Duchennovo mišično distrofijo (DMD)💔😔 Za to bolezen do nedavnega ni bilo zdravila, pred časom pa so v ZDA odobrili prvo gensko zdravljenje za DMD, ki pa v Sloveniji ni na voljo. Najprej ga mora namreč odobriti evropska agencija za zdravila EMA. Zato smo v Društvu Viljem Julijan pristopili k evropski akciji zbiranja podpisov za peticijo, naslovljeno na agencijo EMA, v kateri je na agencijo naslovljena pobuda, da v najkrajšem času odobri to zdravilo za bolnike v Evropi, kar pomeni, da ga bodo lahko dobili tudi otroci v Sloveniji💪🇸🇮 Duchennova mišična distrofija je namreč izredno težka in napredujoča genetska živčno-mišična bolezen, pri kateri propadajo mišice v telesu, primarno skeletne mišice in srčna mišica. Bolezen se običajno pokaže že v otroštvu in zatem napreduje, tako da bolniki pogosto že v zgodnjih najstniških letih izgubijo vso sposobnost hoje in doživljenjsko potrebujejo invalidski voziček. Na koncu bolezen prizadene tudi dihalne mišice in srce, kar vodi v prezgodnjo smrt. Pričakovana življenjska doba bolnikov je zgolj okrog 30 let. Za DMD doslej ni bilo nobenega učinkovitega zdravljenja, ki bi lahko zaustavilo ali upočasnilo napredovanje bolezni💔 Dajmo možnost otrokom z Duchennovo mišično distrofijo - podpišite on-line peticijo za čimprejšnjo odobritev novega genskega zdravljenja za to bolezen. 👉On-line peticijo lahko zelo enostavno podpišete tu: https://lnkd.in/dgRPU88R Prosimo, da jo delite tudi naprej!🙏 Iz srca hvala!❤️🙏 ❤️V podporo vsem malim borcem vas tudi vabimo na naš veliki dobrodelni koncert Viljem Julijan za otroke z redkimi boleznimi, 12.10.2024 v Cankarjevem domu v Ljubljani❤️ ----------------------------- 💛Za naše male borce lahko prispevate donacijo z SMS VJ5 na 1919 ali z nakazilom na TRR SI56 0400 1004 6908 898 (Sklad Viljem Julijan)💛 #viljemjulijanassociation #drustvoviljemjulijan #Društvo #viljemjulijan #redkevolezni #maliborci #otrocizredkimiboleznimi #Duchenne #DMD #Slovenija #EMA #treatment #approval #EU

NAŠI MALI BORCI - OTROCI Z REDKIMI BOLEZNIMI NAS POTREBUJEJO, zato drage Slovenke in Slovenci, prosimo, DELITE ta video na vso moč! 🙏❤️ Srčno vabljeni na naš veliki tradicionalni, sedaj že šesti dobrodelni koncert Viljem Julijan 2024! Z vabilom začenjamo tudi našo veliko koncertno zbiralno akcijo za male borce, ki bo potekala vse do samega koncerta. Koncert bo v soboto, 12. 10. 2024, ob 18.30h v Cankarjevem domu, v Ljubljani. 💛 Karte so že na voljo na vseh Eventim prodajnih mestih ali na povezavi 👉 https://bit.ly/4cr44lV 💙 Za naše male borce lahko prispevate tudi donacijo z SMS VJ5 na 1919 ali z nakazilom na TRR SI56 0400 1004 6908 898 (Sklad Viljem Julijan)💛 Društvo Viljem Julijan Tokrat bo koncert prav poseben, saj bo njegova tema “Otroci za male borce”. Nastopili bodo izjemni otroški in mladinski pevski zbori: otroški pevski zbor glasbene šole Koper, mladinski pevski zbor Glasbene Matice Ljubljana, Mladinski pevski zbor OŠ narodnega heroja Maksa Pečarja. Z nami pa bodo tudi izbrani glasbeni gostje: Nastja Gabor, Isaac Palma, Gregor Ravnik, Nina Strnad, Vila Eksena in drugi, nastopil pa bo tudi ustanovitelj Društva Viljem Julijan, Gregor Bezenšek - SoulGreg Artist s svojim BigLights Bandom. Letos bo poseben, ganljiv in nadvse čaroben 💫 koncert s katerim bomo dali vedeti malim borcem in njihovim družinam, da nam je mar in da nas imajo, ko nas potrebujejo! SLOVENIJA 🇸🇮💙, napolnimo Cankarjev dom in dajmo najranljivejšim v naši družbi vedeti, da niso sami in da imajo vso našo podporo in ljubezen! 💙 ❤️Društvu Viljem Julijan lahko podarite 1% donacije od dohodnine. Najlepša vam hvala!❤️ #viljemjulijanassociation #viljemjulijan #koncert #maliborci #Ljubljana #cankarjevdom #Slovenija

Today, we celebrate Maša's 5th birthday. Despite being afflicted with a deadly disease that has taken away all her abilities and causes her pain, we wholeheartedly congratulate her for every day she endures. At such a young age, she faces the toughest possible path in this life❤️💪😔❤️. For your 5th birthday, dear Maša, we wish you all the best with all our hearts ❤️🎂❤️. We hope you have peaceful and easy painless days, and you continue to receive many hugs from your brother, mom, and dad, who love you immensely ❤️❤️❤️. We are thinking of you and sending our love and support your way💛. Maša was once a very bright, lively, and talkative girl. However, at just 2 years old, a severe rare genetic disease—metachromatic leukodystrophy—took away all her abilities. She has become completely immobile, can no longer eat or speak, and suffers from severe spasms and intense pain😥💔. This disease, which destroys her nervous system, is progressing and taking its unstoppable course. Yet, Maša remains a wonderful girl who captures the heart of everyone she meets with her serene presence💛. Today, we are all thinking of our brave little fighter. In our association, together with Gregor Bezenšek Jr. - SoulGreg Artist, we send her our most heartfelt greetings and best wishes❤️. ❤️ In support of Maša and all the little fighters, we invite you to our big charity concert "Viljem Julijan for Children with Rare Diseases" on October 12, 2024, at the Cankarjev dom in Ljubljana ❤️ #SupportMaša #RareDiseases #ViljemJulijan #CharityConcert #BraveFighters #LoveAndSupport #viljemjulijanassociation #slovenia #metachromaticleukodystrophy

Meet a little girl Sofia, who saved her brother Adam's life by giving him the chance for a treatment which she, unfortunately, did not have❤️❤️❤️💔 "At this time exactly five years ago, Sofia gave her - then only a few months old - brother a chance that she did not have. They are bound by something that is very hard to understand, but it certainly manifests in their immense willingness and strength." Sofia seemed like a completely healthy little girl until the age of 2 when she was diagnosed with a deadly rare genetic disease – metachromatic leukodystrophy. Although there was an experimental gene therapy for the disease, it was unfortunately too late for her to receive it 💔. However, after Sofia's diagnosis, her younger brother Adam and older sister Julija were also tested for the disease. It was discovered that Adam also had this deadly disease, but since he was only a few months old, he was able to receive the treatment at IRCCS Ospedale San Raffaele in Italy , which stopped the progression of the disease. Sofia saved her brother's life and gave him the chance she sadly did not have ❤️❤️❤️. Today, Adam is a strong and smart boy, while Sofia has unfortunately lost all of her abilities... Once a bright and talkative girl, she has become completely immobile and unresponsive 😔. The love and connection between Sofia, Adam, and Julija is immense, they are connected by a very special bond ❤️. These days, Adam celebrates his miraculous rebirth, a testament to Sofia's profound and selfless gift of life. Our hearts are overwhelmed with love and supportive thoughts for Sofia, her brother Adam, and their sister Julija, surrounding them with endless gratitude and joy. ❤️🙏❤️ #ViljemJulijanAssociation #viljemjulijan #association #children #metachromaticleukodystrophy #slovenia #rarediseases #rare #awarness #support #life

💪🥰HURRAY, we have now already raised €1,672,000 for the development of gene therapy for Cockayne Syndrome - Type B (CSB)❤️💪 In the Viljem Julijan Association, we're working hard with Karolina and her family to continue our fundraising in Slovenia, and we have now raised almost €250,000 since spring 🇸🇮💪🇸🇮 We are now entering our final stage, with 328,000€ still to go, to reach the goal of €2,000,000 for the pre-clinical stage of gene therapy development for Cockayne Syndrome - Type B❤️ Karolina is a lovely 5-year-old girl from Slovenia and she is the reason for this project. Gene therapy is being developed for all children with CSB around the world💚 Our two scientific teams at University of Minnesota in the USA and Algarve Biomedical Research Institute in Portugal are also working very hard to finish the pre-clinical part of development and to enter the clinical trial phase❤️ 🙏❤️❤️ Please support development of gene therapy this terrible and devastating disease https://lnkd.in/dCH3PVax 🙏❤️❤️ #Treatment for Cockayne syndrome type B #GeneTherapy for Cockayne syndrome type B #cure #cureforcsb #help #support #slovenia #europe #children #awarness

💔🙏Thinking of 2-month-old Vita, who was born with the extremely severe and incurable rare disease – Pfeiffer syndrome😔💔. This brave little fighter has already endured so much at her tender age. She was born with respiratory distress, intubated immediately after birth, and underwent an emergency respiratory surgery. She has impaired hearing and vision, and now faces a long journey of numerous challenging head surgeries😔💚. Given the tough and demanding path ahead for little Vita, let's all send her our heartfelt thoughts of support and love today🙏❤️❤️. At the Viljem Julijan Association, along with Gregor Bezenšek Jr. - SoulGreg Artist and Nina, we want to tell her that she is not alone and that we are all strongly rooting for her🙏❤️❤️. "On the last day of March, our special girl Vita Nia was born, and she wasn't breathing at birth. They had to resuscitate her immediately... I thought she would die, that she wouldn't survive😪. Since she couldn't breathe on her own, she got a tube in her mouth. She was then transported to UKC Ljubljana, where due to narrow airways, she immediately underwent emergency respiratory surgery💔, which fortunately succeeded❤️. Vita Nia has severe hearing loss, impaired vision, bulging eyes, and contracted hands. She faces numerous complex head surgeries, but we are doing our best to keep faith that she will be okay...” Pfeiffer syndrome is an extremely rare genetic disorder characterized by craniosynostosis, which is the premature fusion of certain skull bones, preventing normal skull growth and affecting the shape of the head and face. Dear Vita Nia, we are all rooting for you and believe that you will make it through🙏💪 #ViljemJulijanAssociation #rarediseases #rare #diseases #pfeiffer #pfeiffersyndrome #slovenia #awarness #support #vita

💪Hooray, we have achieved a GREAT VICTORY for little fighter Kalei❤️️, who has a rare and severe Ehlers-Danlos syndrome💔. Thanks to the Viljem Julijan Association for Children with Rare Diseases, she was able to receive treatment in London💪💪❤️❤️. "I still believe that if we hadn't received approval for treatment abroad at that crucial moment, Kalei would have remained disabled forever..." her loving mother told us. Ehlers-Danlos syndrome is a severe rare genetic disorder that weakens the body's connective tissue😔💔. Symptoms include loose or unstable joints, hyperextensible skin, and fragile tissue. Without timely diagnosis, this disease can lead to life-threatening complications💔. Today, we share the heartfelt story of Kalei, whom we helped get treatment abroad. Please share this post🙏 to raise awareness about this disease❤️. The Viljem Julijan Society continues to support Kalei and send loving thoughts for her maximum recovery🙏❤️❤️❤️. -------------------------------- ❤️You can donate 1% of your income tax to the Viljem Julijan Association. Thank you very much!🙏❤️ -------------------------------- 💛To support our little fighters, you can donate via SMS by sending VJ5 to 1919 (from Slovenia) or by donation to TRR SI56 0400 1004 6908 898 (Viljem Julijan Fund)💛 #ViljemJulijanAssociation #viljemjulijan #rarediseases #rare #Slovenia #hypermobility #EhlersDanlos #Kalei #awarness #hope #life #children #London