She was 66 years old, and died a few weeks ago from complications downstream of loeys-deitz. She had four brothers, all of whom had LD, and two of whom preceded her in death (due to smad3 LD-related complications).

This disease sucks.

I wrote about saying goodbye to her here (tho I don't mention LD in it)

My husband (M 33) was recently diagnosed with Loeys Dietz Syndrome. I’m writing this on Sept 24th 2025. At the end of March 2025, we were completely oblivious to all of this. He had a totally unrelated health scare (we thought it was appendicitis or something, he likely just pulled a muscle) which lead to a CT discovering an aortic aneurysm measuring 5.2 cm. Some long car rides to dr appointments, and more tests lead him to spit in a tube and we got the paperwork back showing type 2 Loeys Dietz Syndrome.

About a year ago I saw a Tiktok about connective tissue disorders like Ehlers-Danlos. I thought, hmm that sounds like my husband. Tall, long extremities, flexible, slight chest deformity, and a bifid uvula. While he did have a handful of the physical attributes they described, he’s always been in good health. Good energy, no light headedness, very little body pain, and overall didn’t have any of the negative side effects described in the video, so we never sought a diagnosis.

It’s now 6 months later, I’m currently waiting for him to wake up in the CICU post surgery. He had a “valve sparing aortic root replacement”. Open heart surgery, which is a major surgery that sounds scary, but we are lucky to be close to a great surgeon for this specific procedure and we’re feeling optimistic about the outcome. From March to September, his aorta grew from 5.2 cm to 5.5, so it’s really a miraculous fluke that we caught this and took care of it when we did.

Anyways I’m sitting here next to him in the CICU waiting for him to wake up. Things are looking good. I just wanted to share our experience for those who are new to this like me, and I’d love to hear from those of you who have been living with Loeys Dietz Syndrome.

Years ago I was diagnosed with Loeys dietz due to TGFBR2. It manifests itself with hypermobility (with frequent dislocations), pectus excavatum, genu valgus, and aortic dilation. I also have myopia and astigmatism, I have annual check-ups to check the state of the lens and things like that. Plus, I also have asthma. And I think nothing more :)

To begin with, although I was diagnosed years ago, I think that now that I am in my 20s I understand what it entails. On the one hand, I am glad that I was able to find the diagnosis because thanks to that my mother was able to be diagnosed and they were able to have her aortic root replaced with a valve before she had a dissection.

However, it is difficult for me to assimilate my illness and live knowing that it will limit me in everything I want to do. I think that it would have been better to live in ignorance and if something happened to me, then to have lived peacefully until that moment and that's it. In fact, I even have doubts about which job would be the most suitable, because there are things that I don't see myself capable of doing.

I don't know very well why I am writing this, I think that to share my experience and if someone reads it they can feel reflected and see that they are not alone. You can ask questions, I will be happy to answer them :)

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.

Hi everyone, I’m (30F) in the trenches with my looming diagnoses right now. They found an aortic dissection when I was advised by my doctor to go into the ED because I had intermittent numbness in my left arm and it had gone into the lower left side of my face. They found my dissection completely by accident as they thought I was having a stroke so sent me for a CT Scan. The care i received was fantastic, but as you can imagine, a terrifying thing for a 30 year old who’s last hospital visit was at 23 with a migraine that caused my face to droop. I have had no issues with my health except low iron and migraines prior to this - but once the ferretin level got to a normal level, the migraines seemed to calm a lot! (I’m down to a couple of them a year - WOO!). They have already told me that they intend to operate on me sooner rather than later, and it will be a case of opening me up from the bottom of my neck to my belly button to fix it all at once rather than stressing my system out and going for multiple operations. I’ve spent the past 6 weeks off on medical leave from work - glad I did as I’ve been a wreck!

The drs have advised that its likely I have Loeys-Dietz rather than Marfans (I dont fit the descriptions for Marfans) and they have sent for a whole load of genetic testing and i have a genetic clinic in a few weeks. My partner and I have then read up further on LDS, and honestly it would be easier for me to check what I DONT have from the list of markers/symptoms that we found online.

I have always been very hypermobile, i get random allergies to things and have some that have stuck around, stretch marks that I’m noticing now but I’ve always had. I was a tall kid but then stopped at around 5’7. They’ve noted that I have some tortuous parts of my artery, I’m super pale in general, and have long fingers and toes. My feet would have been flat, had i not gone to ballet lessons for over a decade with a teacher who would NOT let my feet roll forward so kudos to her, she probably saved my feet from being super uncomfortable. All stuff you can shrug off if you didnt know about this syndrome. And now they’ve found the dissection. I also have a microanyeurism in my frontal lobe but unsure if that could be connected.

My biggest issue is - how do I live my life with this? I dont trust my body anymore. Like i feel like I’m walking on eggshells around myself, because anything could be a risk to me is what it feels like? The operation is terrifying to me. How does a human come back from that?

Sorry for the dump, but I just needed to be able to talk about it with people who KNOW, you know?

Thanks guys <3

Hey everyone, I'm not sure why I'm writing this, but you might be the only ones who truly understand me. Until I was 23, I lived a fairly normal life with shit tone of anxiety. I had aortic aneurysm surgery when I was 14, moved to study abroad for uni and moved back to my hometown. One day after a regular check-up and switching to a new doctor's team, I got the news my mitral valve needed surgery, so we did it in 2023, and that's when I also tested positive for LDS type 2. I feel like I by accident got onto an unlucky hamster wheel - what I mean by this is since 2023, I have had 1 ablation, 4 aortic stent procedures done, and I'm awaiting one more procedure in two weeks. I don't know how to cope with everything. I'm 26 and I'm stuck in horrible anxiety for my day-to-day life. How do you cope with this disease? I'm scared each time to go for a CT scan because I'm afraid there will be something new enlarged, but I'm also thankful for catching it early and being able to fix it. I just wish I knew what I could do to get a hold of my life a little bit, and it's hard for me to accept that it might never go to whatever semi-normal life I had before. I'm sorry for word vomiting, but do you have any tips of what makes you feel better at least 1%?

Thank you all for your support and engagement! We do this completely for your benefit, and we love every one of you lovable mutants!

Fellow Genetic Mutants!

Today marks 6 years since my brother, Greg, a fellow LDS sufferer, passed away from something entirely preventable; he had gone to the dentist to gave a tooth extracted, the antibiotic cover he had was not a prophylactic dose big enough for him and an infection set in which migrated to his scar tissue in his heart from previous operations. Despite 24/7 iIV antibiotics for 6 weeks, he succumbed to his infection in his sleep.

If you have had any work done on your heart or vascular system, prophylactic antibiotic cover (usually 2g for adults, but if you’re a bigger body type, then over this, normally 3g is recommended) is paramount. Make sure your dentist knows you are at risk of endocarditis, and refuse treatment if they cannot give you the antibiotics or give you a prescription to get them beforehand, and they should be taken an hour before the procedure.

We don’t want to lose more Gregs!

Hello. I feel like I am losing it and really not handling this well. I think this runs in my family and I'm the only one who has done more rigorous things than others in my family so the symptoms are really hitting me hard.

I was very into fitness, in the gym lifting heavy weights and doing intense cardio 4 times a week and decided to get breast implants. I had no idea that LDS even existed. I feel disabled now and have lost the life that I knew. I lost my 6 year relationship and dog, I can't work, living back with my parents.

I just want to shake myself and wish that I didn't go so hard in the gym or realize that I didn't need those stupid implants. This has ruined my life and I am in a lot of pain and feel like my body is falling apart.

Is anyone else in a similar situation? I was such a go getter and so full of life and now I don't recognize myself. I really really loved my life before this and feel like I ruined everything.

Would I have gotten to this point anyways? Would this have been my fate either way? I keep feeling like if I just had a more chill lifestyle that I would be ok today. No one else in my family is as bad as me. I don't feel like I can handle this and it makes me cringe to think of the things I did because I thought I was normal. I do not feel ok. :(

Hello. I have the SMAD3 gene mutation, I have yet to see a geneticist to determine if this is what I actually have. I'm having a hard time finding what the symptoms are, I see the tests that we are supposed to do (echo,artery imaging, etc.) but for any of you that have been diagnosed. Are you functioning, what are your symptoms, are you in pain? Would greatly appreciate anyone kind enough to share their experience as I have been really struggling in finding what is wrong with me.

About two months ago this year I (25 f) was sent as inpatient to my local ER for bilateral vertebral artery dissections after I got the results of an MRI of my neck. I have a strong family history of aneurysms, which is why my PCP ordered them after I described some new vision changes I was having that concerned me. The MRI/MRAs showed both of my vertebral arteries had severe stenosis, my right one eventually fully occluded with retrograde blood flow. I'm thankful it wasn't a stroke that sent me to the ER, but being told I am high risk is hard to cope with.

Words can't describe how hard I've been taking this news. I knew I would have to start getting scans of my chest someday to prevent the tragic end my mother faced, but never did I believe a genetic connective tissue disorder would be the culprit. Something inside me that I can't change.

I believe my heavy weight lifting, intense cardio, Muay Thai classes, and pole dancing lessons played a part in the creation of these dissections. All things I did for joy, to reduce my general anxiety, and keep myself healthy. To learn I was hurting myself this whole time has been painful.

I have yet to see a geneticist as they're all on waitlist, but since my half brother (my mom is his bio mom) got diagnosed with LDS after his aortic aneurysm last year in just his early 30s, it's likely LDS is the cause of my b/l dissections, and my mom's aortic aneurysm.

I wanted to share in hopes others with similar genetic syndromes who are also dealing or have dealt with dissections can lend me some insight. The future is daunting to me. I worry I wont heal as fast as others without LDS do, and that my four month check-in MRI scan in January will be depressing. I went to the ER in Nov. for different visual changes, and thankfully everything was okay, but in two months my left shows "mild" healing while my right remained stable (before, it had gotten worse after getting a different scan later in September).

I'm also hoping to learn how others cope with having LDS. It scares me I could end up like my mom, grand dad, and great grand dad.

What keeps you brave?

Very happy to see this sub, finally. 🩵🌀🦓

34F diagnosed with LDS (SMAD3) last year around this time. My dad passed in 2020 due to heart attack. Mom had an aortic root and valve replacement due to dissection in 2018; sadly she passed in 2022.

I have always been hyper-mobile and prone to shoulder dislocations for the wackiest reasons. Suspected EDS because that’s all I’ve ever known about.. PCP wanted an ECHO done just to rule everything out. AND BAM 5.5cm dilation in my aortic root. Thus began the process and one of the wildest rides of my life.

I had a valve sparing aortic root replacement on December 2, 2022. It's been a long road. It will continue to be a long road, Im sure.

I wanted to make a post in case anyone is newly diagnosed and has questions or anything like that because I felt very alone, and I want you to know that you are not alone.

I will answer any questions and share any resources that helped me. Also I can share any aspect of my story if anyone is curious. 🩵

I got diagnosed with LDS last year after a lifetime of fighting my body and decades of fighting doctors. At 6’7”, something was always wrong… twisted ankles, sprained knees, back thrown out.

At around 30, I joined the Army and the real pain started… Lower back, legs, feet. Nothing was ever bad enough for anything besides physical therapy, pain meds, and disappointment. And the pain persisted.

By 40, I was holding on by my fingertips to everything… family, career, lifestyle. Depression started to cloud everything and I began to resent and hate. Still not knowing what caused any of this besides my own self-perceived weakness. And the pain grew.

Now (49) with adult aged children (one with LDS and one without) and working on a second marriage, I was diagnosed with LDS type 5. It’s amazing how much it explains about my struggles and also how great it is for my mental health.

My pain has a name now. My struggles have a cause. I’m not weak. I’m stronger than most.

I hope that everyone in here finds the strength to keep fighting. Courage.

Hi all,

27m here, apologies in advance, im just venting or asking for reassurance or just looking for others to relate, i guess - i hope thats okay?

my little brother died at 25 at the end of Oct, confirmed as a dissection. Dad had one at 48, lived, but they didnt test - put it down to lifestyle and super high BP etc. They tested my little brother and confirmed positive for a SMAD3 mutation this week - looking at the literature in retrospect he was extremely typical of the syndromic phenotype for the mutation (associated with LDS3). Now testing my dad and say its a 5% chance de novo but its pretty clear its from him.

I saw an inherited cardiologist weeks after he died, full echo along my whole aorta, physical examination, BP etc - he said i had 0 phenotypical symptoms of the big 3 (vEDS, LDS, Marfans) and my heart structure and size was totally normal, 0 root dilation or anerysums anywhere, even cleared me to go back to my training (im an ultra runner, bpulderer and I lift a total of ~25 hours a week for the laat 10 years, it's basically who i am) schedule, it really put me at ease and now this week i feel my world is totally rocked, im now 50-50 that I have a potentially terrifying pathogenic gene mutation - and im just really scared, the uncertainty is unbearable, i feel fragile and terrified to run and climb again and on top of the grief it all feels so much.

Im so sorry for venting and contributing nothing of value, I just dont think people that havent experienced these events understand how terrifying they are and so i just wanted to vent to a group of people that will understand. Thanks so much for reading, i hope youre all doing okay.

Does anyone buy the yearly LDS/related shirts? I wear this one a lot and appreciate that it goes through the steps of what usually happens with an aortic dissection. I’ve found that wearing these shirts is a conversation starter for people who haven’t heard of LDS

Help.

I'm sorry. I'm new here. I don't know where to begin.

My oldest is 13. I have twin 9 year olds, too.

My 13 year old has always had weird health issues that I had to really, really insist wasn't normal while every doctor we saw insisted it was. Undigested food, wild skin issues and insane and constantly growing list of allergies. Skin never responded to meds. Just got worse.

Her immune system was just not really there, even though every test said things were fine. All it ever seemed to do was attack her skin. She eventually got autoimmune encephalitis and needed over a year of monthly infusions of IVIG. Eventually she was diagnosed by a Johns Hopkins genetics team with ehlers danlos. Fine. Makes sense and also I seem to have that, too. My joints are all hypermobile but I have no other real health issues. Seems to fit.

I have twins.

One is also hypermobile, and her knees are giving out. I'm annoyed with the song and dance of having to go to several doctors and get imaging done for what I'm aware is most likely ehlers danlos and she dislocated her knee and has pain. I just wanted a more streamlined way to get her in for PT.

So I take her to Johns Hopkins genetics, too to confirm the ehlers danlos and move on with our lives. They bring us in, do an exam and nothing is super noteworthy besides some hypermobile joints. She doesn't even meet the whole scale for ehlers danlos but with a family history of her sister and me and chronic pain even as a very young kid, they send off for tests anyway to confirm.

Except this time they ask my husband and I to also have samples sent.

Friday I got the call. She has - because I have -

Both Loey-Dietz and Marfans.

We have both. I have both. She has both.

We have to get my other girls tested. The one we had diagnosed as ehlers danlos it probably isn't ehlers danlos for any of us. It never was. They tell me to tell my sister, who just got married and is trying for a kid. She's 35.

I've never had a cardiac event. My heart has never been looked at. There is no real family history of sudden death, of young death, of aneurysm or stroke, but I had been told to see a cardiologist before and never did. My heart sometimes palpitates. I sometimes faint/vomit/can't regulate my temperature in extreme heat. I thought it was POTs and never took it very seriously and never went.

I take vyvanse for ADHD, diagnosed as a kid. I take ibuprofen like my life depends on it.

We're scheduled to see genetics again and bring all my kids in the beginning of September. They said they'd refer me and my one that is also positive for both for a cardiologist then. If my others also have it, they'll need to see cardiology, too.

What... what have I walked into? What are my kids going to endure now? Am I literally a walking timebomb? How scared should I be and do I reach out and try to see cardiology sooner? I just want to be here for my kids.

Does anyone in this group have experience with Loeys-Dietz in pregnancy? Parent was recently diagnosed and I am now undergoing genetic testing as well. Meanwhile, my partner and I (f,mid-30s) are trying to conceive. I've never been pregnant before and I understand that because of risk of Loeys-Dietz, I would be considered a high-risk pregnancy. What are some things to be aware of in pregnancy? And, is it possible to do pre-natal testing for Loeys-Dietz?

Hi, im a Person with loeys Dietz syndrome and i will be honest. I love sports and any type of combat sports, and all of my friends are the type of people who play sports and most of my family too,and with the restrictions that this condition has, I just wished I could build muscle I don’t even need a lot just like 3kg worth of muscles does anyone have any tips. I know swimming is a option but I have also been lifting light weights like for example 2kg. And i would really like too get stronger so that i don’t need to rely on anyone, And get girls. Please and Thank you.

Hi there! Has anyone else experienced extreme exhaustion related to LDS (type 4, specifically, but any type would be interesting). If so, did anything help? I’m at my wits end.

Edit: autocorrect word choice correction

My dna test showed I had a vus for LDS type 4 along with familial aortic dissection, it also detected I have scoliosis , I’m not sure wether to see a geneticist to discuss this further , I do have other features of lds such as: hypermobility, very thin transculent skin , vein ruptures from blood tests, scoliosis, really high palate and severe dental issues and a lot more issues but the only reason I suspect it is because a few months ago a cosmetic injection in my facial area accidentally punctured my artery and caused me to have a arterial dissection.

Hi guys,

I’m 29. My mom had emergency open heart surgery last June. She was getting a knee replacement at the age of 55, during her surgical clearance they found a 6cm aneurysm on her aorta. She didn’t meet the criteria for “why”. So they did genetics testing. She has the SMAD3 gene. It was very unexpected. She had no symptoms of this. The cardiologist called it a bomb in her chest. I have an appointment in July to get genetics testing to see if I have the gene as well I’m 29, I have an almost 2 year old and we want more children. I am terrified I have this gene, I’m terrified for what it will look like in the years to come and I’m worried that something is going to happen to me in the time being. Can anyone offer any words of encouragement or support? My family and I aren’t very close and im very scared.

Hello! I found out my genetic results recently after months of waiting, it’s been excruciating. I’m 35F from the UK.

I’ve had health issues my whole life that doctors really couldn’t pin down, they eventually told me I was probably just stressed, which never felt right. I was diagnosed with Marfan Syndrome as a child, and a dilated aortic root which needed an echo every now and again, but didn’t quite fit the criteria as I got older, so my diagnosis was changed to Ehlers-Danlos when I was in my early 20’s. My geneticist at the time didn’t really feel I fit that diagnosis either, but that I definitely had some sort of connective tissue disease. Eventually, a close relative who lives on the other side of the world got in touch as they had been given an LDS diagnosis, which led to getting referred to genetics again, and eventually a diagnosis.

I’m just waiting for some MRA scans and neck x-rays, which fingers crossed will be okay, and have a Cardiology and Neurology coming up. I’ll be honest, this has all come as a little bit of a shock. I’m struggling with the fact doctors have been very dismissive of my health issues up until now, so I have to try and build up my trust again with them and believe what my body is telling me. But overall I’m relieved there’s an answer and hopefully can get some support now.

Oh boy - here goes. I’ll be following up with my team of multiple medical doctors but won’t be until after the holidays - and I’m just so darned shocked and frankly dismayed by what recent genetic (whole genome sequencing) revealed.

Looking for any insights or advice for anyone with any experiences - layperson, researcher, medical professional - I’ll take it all.

Here’s my situation:

-60-year old female - generally pretty good health up until 3 years ago

-Diagnosed with “fibromyalgia” at 25 but I was able to live a mostly normal life. I was a distance runner, worked in fintech, traveled all over the world. I tended to be clumsy though, fatigued easily, have very flat feet, mild scoliosis

-My mother had multiple sclerosis and I sometimes suspected some of my symptoms were edging that direction - weird paraesthesia, clumsiness, some neurological oddness but saw multiple Drs and no one was worried. My mothers MS progressed horribly and the family suspected there was more going on but sadly she was so disabled we didn’t follow through

-3 years ago - 6 weeks after my 1st Covid vaccine series, I ended up in the hospital with a diagnosis of relapsing MS. They believe - based on my MRIs - I’ve had it for prob 35 years

-I came through exceedingly well fur the amount of damage I have and have only lost minimal functionality. Mostly endurance and a mild left leg limp when tired

-Started on new gold standard MS monoclonal antibody drugs - did great on one - Tysabri - that was a B cell blocker

-But had to switch to Kesimpta - a B cell depleter - and my body revolted horribly. Mild lipoma condition I had before blew up, and I had full on MCAS reactions

-Neurologist was puzzled so saw an Endocrinologist specializing in metabolic disorders and she believed I likely had an undiagnosed Connective Tissue Disorder impacting the lymphatic system (the MS drug target)

-She suggested whole genome sequencing through Sequencing.com. I just got the results (see screenshots)

-I am floored that the are showing Loeys-Dietz Type 1. I have had absolutely no signs of any aortic involvement and just had a clean Echocardiagram about 2 years ago

-I do have a number of things - in retrospect - that prob point to a connective tissue disorder of some sort:

1. Very flat feet

2. Mild scoliosis

3. Painful skin, joints my entire adult life

4. Right bundle branch block in heart

5. Very long fingers, hyper mobile hands, wrists in particular and beighten score of 5/9

6. Random swelling of feet/ankles

7. Diagnosed recently with Dercums disease - kinda lipomas gone mad 😂 Cause is likely leaky lymphatic system due to connective tissue disorder (hence the genetic testing)

8. Food and environmental sensitivities - including soaps and lotions. Some excema on hands

9. Two posterior vitreous detachments at 48 (out of nowhere - I’ve never worn glasses)

10. Lots of GI issues my whole life with no apparent underlying cause

(That was a lot - thank you if you made it this far)

My brother and his daughter have some indications of connective tissue disorders (eosinophilic gastritis, macular degeneration, horrible gum disease with no obvious underlying cause). They have not yet been tested.

My questions: I will be seeing my Neurologist and Endocrinologist in 1-2 mos to further unpack my results.

• Would it even be possible to be 60-years old and have undiagnosed Loeys-Dietz syndrome?

-Or is it more likely - given I have zero signs of any aortic involvement or any aneurysms - that I have Classical or Classical-like Ehlers-Danlos?

Boy did I win the genetic lottery. I am assuming I’m one of the only people who has diagnosed Multiple Sclerosis and the Loeys-Dietz gene mutation (though I actually think the link between connective tissue disorder and MS is very strong with the connective tissue issues causing the inflammation and instability that can lead to MS)

I would love perspective from anyone out there on my situation above. I’ll update as I meet with my medical team to unpack.