ACTA2 Alliance

We are saddened today as we learn of the passing of one of our MSMDS community members. Joey was a courageous young man and fought valiantly for 18 years. Our hearts are with the Toeller family today and always. Our community celebrates his life and mourns his loss together. Rest in perfection, Joey. May we all learn our bravery from such a shining example.

🧡 Community Talks: Megan Dawkins 🧡 Indi was diagnosed with MSMDS after strokes at age 3 and battled with complications while intubation and anaesthesia. Her resilience is an example to follow. Watch the video to know her story!! 👩🏫 Understanding MSMDS MSMDS is an incurable multisystemic disease affecting the brain, blood vessels, heart, aorta, lungs, liver, kidneys, bladder, eyes, and other body parts with smooth muscle cells. There are around 70 diagnosed patients worldwide, mostly children. 📢Raise Awareness and Support the Cause! Help us spread the word 🔄 Share this post so we can help more kids like Indi 🙌 #ActByAct #MSMDS #GeneTherapy #PatientStory #RareDiseaseAwareness #PediatricStroke #HeartFailure #OpenHeartSurgery #ECMOMachine #genetherapy #HelpUsHelpThem #helpustohelpthem

📢 Today is MSMDS Awareness Day! 📢 Let's come together to raise awareness about Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS), the ultra rare and life-threatening disease that affects most of the members of our community. Here are 10 facts everyone should know: 👆 Extremely Rare: Only 1 child affected with MSMDS in more than 100 million births. 👩👩👦👦 Small Community: About 70 known cases worldwide, most of them children. 🔎 Key Signs: PDA/APW, white matter changes, congenital dilated pupils. 👨⚕️ Diagnosis Challenge: It can take up to 5 years to diagnose. 🏥 Frequent Hospital Visits: Repeated hospital stays are common. 🆕 Named in 2010: The cause of MSMDS was discovered and named then. ✳ Serious Risks: Strokes, aneurysms, and aortic dissections can occur from infancy. 🗺 Isolated patients: Fewer than 10 cases per country/state. 👁 Affects Multiple Systems: MSMDS impacts many parts of the body. 🔬 No Cure Yet: We’re hoping for breakthroughs in gene therapy and research. Celebrate MSMDS Awareness Day with us and help spread the word: 🙏 Please share these facts and images to help us raise awareness and support vital research 💜! #MSMDSAwarenessDay #SupportGeneTherapy #RareDiseaseAwareness #HopeForMSMDS #MSMDS #raredisease #ultrarare #ACTA2 EURORDIS-Rare Diseases Europe Genetic Alliance Share4Rare The Aortic Dissection Charitable Trust

💜Community Talks: Wendy💜 🫀 Aortic Dissection: Fatal Outcomes of a Routine PDA Procedure "13 years ago this week, we took Faithy in for a routine PDA ligation, but there would be nothing routine about the outcome. Sometime after it started, the nurse advised there were complications, and she might not survive. Her aorta had dissected, doctors were performing CPR, and we were devastated. She lacked blood flow and oxygen to the brain and spine during the procedure. Faith suffered paralysis of her lower extremities and stroke-like effects, altering the course of all our lives. It was touch and go for a while after, but she survived the dissection, and we were sent home with many specialists to follow up with and several diagnoses. But it would be another 2.5 years before we found out she had MSMDS. A few months after that, we were connected to the MSMDS Facebook Group. Although life is challenging and we face many surgeries in the future, gene therapy has given us hope. We push forward as she continues to smile through it all. Faith is a light in this world, is everyone's biggest cheerleader, and finds joy in all the things." ❗️ Risk of Aortic Dissection MSMDS patients frequently develop aortic aneurysms and are at risk of aortic dissection. Multiple operations are often required for disease management, even though given the fragility of the vessels these are specially risky. Close monitoring and timely intervention are important in mitigating disease progression and improving outcomes. 🌟 MSMDS Has No Cure MSMDS has no treatments other than those to minimize the complications suffered. MSMDS is a multisystemic disease with implications in the brain, vessels, heart, aorta, lung, liver, kidneys, bladder, eyes, and any other body part with smooth muscle cells. There are only 60 patients diagnosed worldwide, mostly kids. 🔬 The Hope of Gene Therapy Gene therapy research in Boston offers hope for MSMDS patients. With your support, we can bring life-changing treatments to those affected by this ultra-rare disease. 📢 Help us spread the word about MSMDS and the urgent need for gene therapy: 🔄 Share this post and include the link to the donations page of ACTA2 Alliance: https://lnkd.in/edkSR9Cy Your support can make a world of difference for patients like Faith! Together, we can make a change 💪 #ActByAct #MSMDS #GeneTherapy #MSMDSAwarenessDay #PatientStory #RareDiseaseAwareness #dissection #heartsurgery #cardiovascular  

💜 Community Talks: Stephanie 💜 🧠 MSMDS and Cerebral Palsy: Consequences of Pediatric Strokes and TIAs “After open-heart surgery for PDA closure, Riley was diagnosed with MSMDS at 9 weeks old in 2021. During the surgery, her medical team at Royal Children's Hospital in Melbourne, Australia, noticed her pupils were non-responsive, and the vessels in her brain were broomstick-like. They suspected MSMDS and began treating her accordingly. Genetic tests confirmed her diagnosis three months later. Since then, Riley has also been diagnosed with dysphagia, a persistent cough, and Cerebral Palsy (CP). CP primarily affects Riley's gross and fine motor skills. To manage muscle tightness and overall body limitations, she uses orthopedic shoes, a full-body splint suit, and is in the process of being fitted for AFOs to assist with walking. Although Riley's developmental milestones have been delayed, her determination allows her to overcome many challenges. MSMDS is a lifelong, non-improving condition. With so few cases worldwide, we are grateful for the ACTA2 Alliance's efforts and are proud to be part of this online community.” ❣ Strokes that Result in CP While Cerebral Palsy (CP) is not directly related to smooth muscle dysfunction, it can occur in MSMDS patients following strokes or ischemic events. Since CP has been found in many MSMDS cases, it is considered a hallmark symptom of the disease. 👩🏫 Understanding MSMDS MSMDS is an incurable multisystemic disease affecting the brain, blood vessels, heart, aorta, lungs, liver, kidneys, bladder, eyes, and other organs with smooth muscle cells. Only 60 patients worldwide have been diagnosed, most of whom are children. 🌟 The Hope of Gene Therapy Gene therapy research in Boston offers hope for MSMDS patients. With your support, we can bring life-changing treatments to those affected by this ultra-rare disease. 📢 Raise Awareness and Support the Cause! Help us spread the word about MSMDS and the urgent need for gene therapy: 🔄 Share this post and include the link to the donations page of ACTA2 Alliance: https://lnkd.in/edkSR9Cy 📨 Reach out to potential donors with our templates for MSMDS Awareness Day: https://bit.ly/ACT_BY_ACT Your support can make a world of difference for patients like Riley! Together, we can make a change. 💪 #ActByAct #MSMDS #GeneTherapy #MSMDSAwarenessDay #PatientStory #RareDiseaseAwareness 

💜 Community Talks: Ye-On 💜 🤰Signs of Smooth Muscle Dysfunction in Utero “At 21 weeks of pregnancy and during a fetal scan, I was told that my daughter’s bladder was failing to remove the urine as it was supposed to do. Besides the failure, the bladder was also growing every passing week on the ultrasound scans. To help with it, the doctors operated on her through catheter while she was still in utero. At that time, a hole in her heart was also found in the ultrasound. Ye-On couldn’t breathe right immediately after birth, so she was admitted to the NICU. After three weeks of testing, her doctor recommended running some genetic tests on her. She presented fixed and enlarged pupils, white matter disease, and some specific cerebrovascular manifestations. Two months after Ye-On was born, we received the diagnosis of Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS).” 🩺MSMDS and Megacystis The growing number of cases in which an ACTA2 variant has been identified in fetal megacystis suggests that genetic testing is an appropriate consideration, particularly prenatally, when other features of Multisystemic Smooth Muscle Dysfunction Syndrome cannot be detected. 👩🏫Understanding MSMDS MSMDS is an incurable multisystemic disease affecting the brain, blood vessels, heart, aorta, lungs, liver, kidneys, bladder, eyes, and other body parts with smooth muscle cells. There are only 60 diagnosed patients worldwide, mostly children. 🌟The Hope of Gene Therapy Gene therapy research in Boston offers hope for MSMDS patients. With your support, we can bring life-changing treatments to those affected by this ultra-rare disease. 📢Raise Awareness and Support the Cause! Help us spread the word about MSMDS and the urgent need for a gene therapy: 🔄Share this post and include the link to the donations page of ACTA2 Alliance: https://lnkd.in/edkSR9Cy 📨Reach out to potential donors with our templates for MSMDS Awareness Day: https://bit.ly/ACT_BY_ACT Your support can make a world of difference for patients like Ye-On! Together, we can make a change. 💪 #ActByAct #MSMDS #GeneTherapy #MSMDSAwarenessDay #PatientStory #RareDiseaseAwareness #Megacystis #FetalMegacystis #BladderDysfunction #NICU #genetherapy #HelpUsHelpThem #helpustohelpthem

💜 Community Talks: Karina 💜 💥 When diagnosis don't justify all symptoms “Daniel had 4 brain surgeries after his diagnosis of Moyamoya in 2001. He was having blood clots and we were advised to have the revascularization surgery so the brain could get better blood flow. Back then, the neurosurgeon who operated on Daniel said to us that Daniel’s MRI didn’t show a typical Moyamoya image. We had to wait 6-7 years to finally get the diagnosis of Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS). I felt relief with MSMDS including all of Daniel’s symptoms that Moyamoya couldn’t explain. Daniel was one of the firsts to be diagnosed with MSMDS and at that time not much was known about the disease. But it gave me reassurance that the doctors could now keep a close eye on Daniel and compare the results with other patients they could have so all of us together could gain greater knowledge in this disease.” 🧠 MSMDS or Moyamoya? Patients affected by MSMDS with Moyamoya-like disease present a lack of basal collateral vessels and abnormally straight cerebral vessels. Patients with MSMDS have an increased risk of perioperative stroke and usually suffer issues when anaesthesia or sedation are required in medical procedures. 🙌 Understanding MSMDS MSMDS is an incurable multisystemic disease affecting the brain, blood vessels, heart, aorta, lungs, liver, kidneys, bladder, eyes, and other body parts with smooth muscle cells. There are only 60 diagnosed patients worldwide, mostly children. 💚 The Hope of Gene Therapy Gene therapy research in Boston offers hope for MSMDS patients. With your support, we can bring life-changing treatments to those affected by this ultra-rare disease. https://lnkd.in/edkSR9Cy #ActByAct #MSMDS #GeneTherapy #MSMDSAwarenessDay #PatientStory #RareDiseaseAwareness #Moyamoya #moyamoyadisease #MoyamoyaAwareness #Revascularization #brainsurgery #brainsurgerysurvivor #genetherapy

💜 Community Talks: Penny 💜 👧 Ella's Journey with MSMDS and Digestive Health “We’ve been on this journey since 2016 when Ella was diagnosed with Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS) at the age of three after a massive stroke. Little was known about the digestive health of these children back then. Malrotation and some constipation were documented in some of the first papers written.” 🤹♀️ The Complexity of Digestive Issues in MSMDS “Some of the early testing that was performed on Ella at the age of three showed that her gallbladder basically didn’t work at all, and her sigmoid had a defect. We also had a specialty test done at @bostonchildrenshospital. She swallowed a capsule that would break into particles to be tracked through imaging over a five-day period. That test showed her digestion didn’t move for over 72 hours.” 🚨 Addressing Severe Complications “Over the years, Ella’s constipation has become more severe. We’ve had to increase over-the-counter medications to an absurd amount just so that she can have a bowel movement once a week. In 2022, Ella was hospitalized with peritoneum, an emergency condition that can be fatal. She had a hole in the bowel in the sigmoid region. We were hospitalized for several days and taken off her blood thinners as her body was repairing the damage on its own. Ella would benefit from a cecostomy, but because of her complex medical history, it isn’t safe to do so.” 📣 Raise Awareness and Support the Cause! Help us spread the word about MSMDS and the urgent need for gene therapy. Share this post and consider sharing the link to the donations page of ACTA2 Alliance. Your support can make a world of difference for patients affected by MSMDS. https://lnkd.in/edkSR9Cy Together, we can make a change #ActByAct #MSMDS #GeneTherapy #MSMDSAwarenessDay #PatientStory #awarenesscampaign #RareDiseaseAwareness #DigestiveHealth #Gastroenterology #digestivehealthmatters #digestivehealthday #digestiveissues #PediatricGastroenterology #worlddigestivehealthday #digestivehealth #wdhd2024 #guthealth #ChronicIllnessAwareness #RareDiseaseAwareness #pediatricstrokeawareness #pediatricstrokesurvivor

💜 Community Talks: Tianne 💜 👁 Big pupils: Clue to an ultra rare disease "During my pregnancy, Levi was diagnosed with megacystis, but doctors couldn't figure out why his bladder was so large. After he was born, they dismissed it as a coincidence. Levi had trouble gaining weight, was hospitalized for pneumonia, and was diagnosed with cyclic vomiting without a clear cause. Now, he's on oxygen and struggles to keep up with other kids due to his pulmonary hypertension. Levi's pupils were always large, but his doctor was not concerned. After his first year, I noticed they didn’t constrict and mentioned it to his GP again. We saw an eye specialist who diagnosed Levi with aniridia. We were also recommended genetic tests and, after two rounds of testing and one year of waiting because of Covid, Levi received the diagnosis of Multisystemic Smooth Muscle Dysfunction Syndrome by ACTA2 mutation." 🧩 The Clues to MSMDS Diagnosis Congenital dilated pupils (mydriasis) and unique retinal blood vessel patterns are common in MSMDS patients. Recognizing these signs can speed up diagnosis and reduce the risk of complications like strokes and aortic dissections. ⚕️ Understanding MSMDS MSMDS is an incurable multisystemic disease affecting the brain, blood vessels, heart, aorta, lungs, liver, kidneys, bladder, eyes, and other body parts with smooth muscle cells. There are only 60 diagnosed patients worldwide, mostly children. 🌟 The Hope of Gene Therapy Gene therapy research in Boston offers hope for MSMDS patients. With your support, we can bring life-changing treatments to those affected by this ultra-rare disease. 📣Raise Awareness and Support the Cause! Help us spread the word about MSMDS and the urgent need for gene therapy. Share this post and consider sharing the link to the donations page of ACTA2 Alliance. Your support can make a world of difference for patients affected by MSMDS. 🤲Donations link: https://lnkd.in/edkSR9Cy Together, we can make a change 💪 #ActByAct #MSMDS #GeneTherapy #MSMDSAwarenessDay #PatientStory #awarenesscampaign #RareDiseaseAwareness #Aniridia #CongenitalDisorders #EuroAniridiaConf #europeananiridiaconference2024 #dilatedpupils #misdiagnosis #MisdiagnosisAwareness #megacystis #kidsbladder #PulmonaryHypertension #pulmonaryhypertensionawareness #PulmonaryHipertension #SupportResearch

💜Community Talks: Kathy Todd💜 Honoring MSMDS Awareness Day 📜 “I have been on the MSMDS group since the beginning, when Kim was diagnosed, and all the unrelated things that had happened to her were now related and made sense. Not knowing was worse, being told they weren't related was worse, wondering when the next shoe would drop was worse. Then with the group, to find Daniel & Carly, Kim felt a purpose/fellowship, even though they were both younger than her.” On June 10th, we commemorate the anniversary of the first support group created by Kim Todd for patients and families dealing with the ultra-rare disease, MSMDS. Three years after its creation, Kim lost her life to MSMDS, but her legacy lives on in the community she helped build. 📍 About MSMDS Awareness Day on June 10th: This special day marks the anniversary of the first act that united us as a community: creating the first support group for MSMDS patients and families, founded by the beloved Kim Todd. Diagnosed with MSMDS in adulthood, Kim's dedication to forming a support network has left a lasting legacy. Since its creation 13 years ago, this group has grown from three individuals to a robust community of over 200 people, all connected by their experiences with MSMDS. Our mission around this date is to spread the word about MSMDS symptoms and raise funds to support the ground-breaking gene therapy for MSMDS patients. 📣 Raise Awareness and Support the Cause! Help us spread the word about MSMDS and the urgent need for gene therapy. Share this post and consider sharing the link to the donations page of ACTA2 Alliance. Your support can make a world of difference for patients affected by MSMDS. https://lnkd.in/eX8ybJkk Together, we can make a change #ActByAct #MSMDS #ACTA2 #MakeADifference #makeadifferencetoday #philanthropy #philanthropymatters #givingbackfeelsgood #givingbacktothecommunity #fundraisingcampaign #fundraisingforacause #FundraisingOpportunity #fundraising #GeneTherapy #MSMDSAwarenessDay #PatientStory #SupportOurCause #ResearchMatters #RareDiseaseAwareness #msmdsawarenessday