r/LoeysDietz

I just found yesterday that my dad has the SMAD3 variant of the gene and a pulmonary aneurysm. He happened to find out because he participated in genetic research at Mayo Clinic. I am 40, and have a 2-year-old daughter and I don’t even know where to begin with this. Our local hospital offers a heart screening/CT scan for $100 so I’ve already requested an appointment for this. I’ve never had cardiac issues, but have a family history of it, which now makes a lot of sense. My insurance would require a diagnosis and then a referral to cardiology, so I’m trying to figure out how I would go about getting genetic testing for me and my daughter. I know I will have to pay out of pocket, and that’s fine. It’s very overwhelming; I’m also an only child so my parents are dumping a lot of their fears on me which is not helping. I have an autoimmune condition, so naturally my mom is automatically tying all of my symptoms back to LDS and assuming I have it too - which is frustrating. If anyone has advice on how to navigate this and seek genetic testing, I’d love any feedback! TIA.

Looking for some reassurance. 32F Pregnant with my first child and my midwife referred me to a geneticist because of my medical history. Shes fairly sure I have a connective tissue disorder and I have quite a few physical characteristics that line up with Loey-Dietz. Has anyone else had no indication of heart problems but after being diagnosed found they have tortuous arteries/ abnormal aorta? I’ve never had shortness of breath or any cardiac problems but now I’m worried about my heart and my child’s future. Did anyone else get diagnosed while pregnant and what did you do after you gave birth? Did it affect your decision to have more children? Won’t have any answers for a few weeks and just looking to hear other people’s stories

He leído que en España tener una aneurisma o riesgo de rotura es motivo de exclusion. La gente con este síndrome suele conducir sin problemas o si que te dicen algo en el psicotécnico. Estoy pensando en sacarme el carnet y no sé si debería consultarlo con mi cardióloga o algo.