💜 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
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