I’m a lifelong LDS patient - hoping to connect with the newer community and be a resource
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.