r/LoeysDietz

I’m 25F and was diagnosed with LDS (TGFBR2 mutation) by Dr. Dietz in 2005 before the disorder was even published. Being diagnosed this early meant there were very few cases documented and very little data on LDS and quality of life. As information about LDS spreads, the community continues to grow and the bigger picture of life with LDS comes more into focus. My perception of LDS has changed a lot as I’ve seen the wide variety of cases and features across the community. In 2005, the only other confirmed cases were pretty exclusively “severe” and/or “obvious” because those were the patients who were desperately seeking treatment and clarity and had gone far and wide to do genetic testing. I now realize that while the LDS community is a great resource for support and information, it is very hard to find someone with an LDS case exactly like yours. People often have scattered features across a few different categories, so going to the general LDS community can feel isolating because even in a big group of LDS patients, none may have the most formative or challenging aspects of LDS that you do.

Anyway, over my lifetime I’ve learned the ins and outs of this community. I would love to be a resource to anyone who feels as terrified and uninformed as I did upon diagnosis. I’ve also managed to live a really full and happy life thus far and I have learned overtime how to have a proactive, calm mindset about self care. Please feel free to reach out to me.

MY CASE SPECIFICS: Shortly after diagnosis, imaging revealed a developing aneurysm and I went in for an aortic root replacement at 5 yo. I have scoliosis and bilateral club feet. Had 2 spinal fusion surgeries with Dr. Sponsellar — PLEASE message me if you have scoliosis and/or underwent spinal fusion surgery - I have yet to meet many LDS patients who have as many skeletal issues as me. I’ve had issues with dental health, bone healing, eating and maintaining healthy weight, allergies, asthma, back brace, hernia, constipation and more.

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