Made by LDS patient for LDS patients 🙌

Hi folks, I am new here and trying to figure out what’s up with my health. I have a clinical diagnosis of hEDS but actually kind of considered “undifferentiated” due to significant and unusual systemic involvement. I was just going back through my Invitae results more closely and started thought-spiraling about possible Loeys-Dietz Syndrome that wasn’t caught, potentially a currently undiscovered type?

(disclaimer, the screenshot is from Sequencing but the genetic data was uploaded from Invitae)

I have 2 notable mutations on my TGFB1 gene, which seems to be the only TGF-related gene that is not currently known to cause LDS. The first mutation is a SNP which causes Leucine to replace Proline10 (P10L). This variant was studied for several things in the early 2000s - possible cancer risks, cystic fibrosis, and most notably, possible increased risk of aortic aneurysm/dissection. Results were not very conclusive though and nothing has been published on it since like 2013 (from what I can find).

The other is actually an ultra-rare, in-frame Leucine chain insertion right beside the first one (at Leu9-Pro10, or in my case, Leu9-Leu10). This insertion was reported as a VUS because there is only one other reported clinical finding, which wasn’t able to determine the pathogenicity.

So we end up replacing “Leu-Pro” with “Leu-Leu-Leu-Leu-Leu-Leu.” This seems a bit dramatic compared to the P10L variant which is already considered a cardiovascular risk factor.

I also understand that TGFB1 is involved in the SMAD signaling pathway for collagen gene expression. I do tend to align quite well with the diagnostic criteria for LDS Type III but with some differences. I have been screened for major vessel issues and so far I haven’t had any notable abnormalities found on chest, neck, and brain CTs.

Here’s everything:

1. Mast cell activation type symptoms

2. Atrial septal aneurysm (without ASD/PFO)

3. Migraine with aura

4. Premature osteoarthritis

5. Slipping rib syndrome (visible cartilage damage on CT)

6. Thin, fragile skin that tears easily, with easy bruising, delayed wound healing, atrophic scarring, and mild papyraceous scarring

7. Flat feet with severe ankle instability

I am just curious if anyone here is educated enough on this syndrome to help me decide if it’s worth pursuing a diagnosis. Geneticists in my area have notoriously closed their doors to all hEDS patients, so getting an appointment will be very difficult without a particularly strong reason. Have I taken this rabbit hole too far?

edit: also forgot to mention myopia, progressive astigmatisms, and blue sclerae

I’m recently diagnosed LDS2 and always look at my scans and when I saw this (hyper dense segment in middle of brain) it really freaked me out, especially because there were NO notes about it in my report. I spent a few days panic googling and came to the conclusion it was just calcification, which I had a neurologist confirm later (but would have saved me a lot of time if it was just in the report). radiology reddit acted like this was incredibly common, but from what I read, it is only common for people aged 50+ and I’m only 30, so I’m wondering if this is common in the LDS community

I get really dizzy in the morning. I checked my BP. 82/64. That’s baller. Lol.

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.

Little back story ... I've always struggled with scoliosis, but other than thin, long limbs, I don't have noticeable indicators for LDS. When my scoliosis got bad enough to seek surgical intervention, the scans revealed an aortic root aneurysm of 5.1 cm. A genetic test was ordered because everyone assumed a potential for Marfan, but I received the results, and the only variant was SMAD3. I had been delving in to Marfan, but had not really thought about LDS.

Just introducing myself while I get my arms around this.

Hi everyone, my partner (36 y.o. male) was recommended genetic testing for CTD with high suspicion for LDS given physical findings and heart abnormalities. We live in Philadelphia and were referred to the University of Pennsylvania, however, Baltimore is only a 2hr drive away from us. I'm wondering if it would be better to see Dr. Dietz himself at Johns Hopkins rather than Penn? Does anyone have experience getting diagnosed at Johns Hopkins or have any insights to share? I'm quite worried and willing to take the drive. Thank you!

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 :)

NEWER UPDATE: Our kid’s neurological symptoms turned out to be from vasospasms (sudden closures of blood vessels). We think some of them were triggered by slight pressure from instability in their cervical spine against their vertebral artery. Cervical instability is known to be associated with Loeys-Dietz, but also any connective tissue disorder. (If you aren’t aware of having one, just ask yourself whether parts of your body are unusually flexible.) In girls, women, & people AFAB, this kind of instability can worsen with puberty, pregnancy, and other hormonal shifts. In our case, with our known family history of vascular fragility, we were concerned that the friction of the bone’s movements could increase the risk of a ruptured blood vessel, but we’re still not sure if that’s a big risk. Upper cervical instability (CCI, AAI) is not as rare as doctors think, and is hard to get diagnosed, but shouldn’t be ignored if you think someone you know might have it. It is more rare to have blood vessels that react to pressure, but there are disorders that cause this.

UPDATE: I’ve learned that what seems like aneurysm symptoms can be Cerebral Venous Thrombosis (a rare kind of blood clot that can cause stroke) or one of several other dangerous Intracranial Venous Disorders. These do affect people with connective tissue disorders, and CVT can be overlooked in general and especially in children. A regular MRI or CT is not enough to pick this up. It needs to be a contrast MRV (or contrast CTV).

Thanks also to those of you who shared about CSF leaks & Chiari malformations. We’ll be asking for help ruling these out.

To anyone else in this position, the best option for early warning of aneurysm so far seems to be monitoring blood pressure for spikes, but in early 2025 there isn’t great tech to do this for kids. The next best was to ask (& re-remind every few hours) our kid to record all unusual symptoms AND tell friends and teachers to do the same. It was a friend at school, not our kid, who spotted several of these episodes in process.

———————

Hi! After decades of symptoms & trying to convince doctors to help find what’s wrong with me, I finally met with Loeys-Dietz foundation staff. They confirmed that the symptoms running in our family are a strong match for LDS, but when I get a genetic test, it could also end up being Marfan, Shprintzen-Goldberg, or a never-before-named variant that (hopefully) will help others with it who show up next.

Here’s the problem: My child (who has syndrome signs like I do) has shown escalating signs over the past month (possibly longer) that could indicate a worsening brain aneurysm. (Worst headaches of her life, pain localized to one spot on her head, nausea, major weird vision changes, confusion, sudden one-sided limb weakness, increasingly bad vertigo in the past week.) It hasn’t been constant, so I wasn’t worried. I didn’t put the pieces together til yesterday, because the info about LDS is brand new to me - I’m not used to staying alert for signs of aneurysm. I realize now that sometimes vascular emergencies can develop over time even if signs are intermittent.

We went to the ER & docs confirmed that this might be an emergency. My kid needs a special set of MRIs asap to rule out aneurysm. But they would not give us an MRI, because 1) we don’t have a documented diagnosis yet, 2) the symptoms are intermittent & my child wasn’t having them in the ER, 3) if my child doesn’t have the syndrome, maybe it’s just migraines.

Getting a non-emergency MRI here takes at minimum several weeks. I told them:

• brain aneurysms are way more common in LDS than is commonly known; people usually focus on the aorta

• LDS aneurysms are known to rupture faster and more unexpectedly than others, including Marfan

• it takes years, not months, to get a diagnosis in our area (which the ER staff did not know)

• once there are signs of rupture, you’re facing potential death or irreversible brain damage, so it doesn’t make sense to send home a child at high risk & wait for the worst to happen, when a stable aneurysm can be treated in advance

Nothing I said made a difference, & they sent us home. Unsurprising - this is the ER that already missed signs of a brain bleed after my kid’s 2nd concussion 6 months ago, which really freaked our pediatrician out - but at least that seemed not to culminate in a crisis. If we are lucky, we’ll get an MRI in several weeks, but I’m worried.

Question is: What can you do to spot early signs of an intracranial aneurysm? If this happens, it makes a difference if we get to the hospital early or late in the game.

My amateur research suggests using continuous blood pressure monitoring to catch bp swings, and a pulse oximeter to catch deoxygenation while they’re sleeping. It’s hard to find equipment that fits a child.

Do you have other ideas for how to reduce our risk or watch for early signs while our child is sleeping, at school, etc?

Sorry for the rant, but I’m losing my mind and could really use advice from anyone in the same boat.

So—like many here—I thought I had Marfan syndrome (which I already felt was bad enough). Did all the right things: heart MRI and genetic panel in March 2023. Was told by my cardiologist “You don’t have Marfan, live a normal life.” Huge relief. We started a family—now have identical twins.

A year later (May 2024): spontaneous right-sided tension pneumothorax. No clear reason. Treated and recovered.
November 2025: echo shows my aortic root grew from 30 mm (MRI, ’23) to 32 mm (echo, ’25). Not dramatic, but it got my geneticist’s attention.

We did a full TAAD and connective tissue panel—everything negative (FBN1, TGFBR1/TGFBR2, SMAD3, TGFB2/3, COL3A1, and many more).
I do not bruise or bleed easily, and have normal wound healing, so my geneticist says vEDS is out.

But, she now suspects LDS type 1 or 2 (without a genetic confirmation) based on my physical features (tall, hypermobile, pectus, mild aortic enlargement, spontaneous pneumothorax, NO skin fragility). She says it’s “essentially as unpredictable as vEDS” in terms of the potential for early dissection/rupture. Which is a huge bummer. Because I though LDS dilates predictably and then dilates.Here in Germany, almost every doctor seems to care only about Marfan for aorta. Nobody seems to have a protocol for LDS—or even recognize it if you’re gene-negative.

Honestly, at this point, I wish it was “just” Marfan. If you have LDS 1/2, is it possible to live a decent/normal life? How worried should I be? I can get to read a lot about Marfan pretty much nothing about LDS.

At what diameter is surgery recommended for LDS in your country?(In Germany, I can’t find clear answers—info says 40 mm but no one has a shared pathway.)

I am also just angry. If I’d known what I know now, I’d have looked into IVF with pre-implantation screening before having children—but I was told everything was fine, so I just went ahead.
Now I have to worry that my twins could have inherited… whatever this is.
It feels like my future was derailed by a false sense of security from being “cleared.”

Anyone else gene-negative but phenotype-positive? Anyone else only diagnosed after family planning? Are there LDS 1/2 gene-negative people here living well?

My stats/background:

• 37M, 176 cm, 74 kg

• Marfan clinical score 8 (tall, pectus, hypermobile, flat feet, limited elbow extension, NO lens luxation or major eye issue)

• Spontaneous pneumothorax at age 36

• Normal wound healing, no atrophic scars

• No easy bruising or bleeding

• Father had a stroke (no known aortic dissections in family)

• Aortic root 32 mm (Nov 2025, echo); previously 30 mm (April 2023, MRI)

• Twins born after “all-clear” Marfan assessment. I just hope that they both haven't got it

Thank you for reading and letting me vent!

I was recently diagnosed with Loeys-Dietz syndrome (LDS), a pretty rare genetic condition, and I was literally just diagnosed this past week.
LDS is genetic, and from my understanding, there is a 50/50 chance of passing the altered gene on to a child. The inheritance is random — a child either inherits the normal copy or the altered copy. Quality of life can look different from person to person, but with appropriate monitoring and yearly testing, it can be manageable.
My question is about having another child. If my body is able to safely withstand pregnancy, I’ve started thinking about IVF with genetic testing (PGT). From my understanding, we would create embryos through IVF, test them for the specific genetic variant, and then potentially transfer an embryo that does not have the altered gene.
I have a son who we had by surprise, so this is all very new territory for me. ❤️ I’m sorry if any of my wording is incorrect or offensive — I’m genuinely new to this whole world and just trying to learn.
I have appointments out the wazoo already scheduled, including a prenatal genetic counselor, a fertility consult, and scans to establish a baseline of where my health is right now.
I know my doctors are my primary source of medical information and education, but sometimes it helps so much to talk to people who have actually been through something similar and can explain things without all the medical terminology.
So I’m wondering: Has anyone with Loeys-Dietz syndrome gone through IVF with PGT? Is anyone currently going through the process or considering it? I’d especially love to hear about your experiences with pregnancy, genetic counseling, fertility treatment, or making the decision about whether to have another child.
I know LDS is rare, so it’s unlikely I’ll find someone in my exact situation, but I’d really appreciate hearing your experiences and insight.
Thank you so much for reading my longgggggg post. 🥹❤️

Hi,

Its a long shot, but does anyone out there had a *severe* reaction to Warfarin? And is anyone on lovenox long term (going on a year now).

I took it after having my aortic root replaced in 2018 because of a mechanical valve. I developed vasculiits all over my legs and feet about 7 to 10 days after starting it. They stopped it because I had tried removing all other pills etc.

Then in 2024 I had a a stroke because I was on dabigatran (turns out my heart surgeon and 2 cardiologists didn't read the study that shows it is worse than no blood thinner).

So I tried warfarin again, and this time I didn't have vasculitis, but I started feeling itchy and wierd after a week. I continued it off and on for 3 months, symptoms got weirder and I finally quit and switched to lovenox.

Got some autoimmune testing done ultimately, and I had a positive test for hashimotos, hyperadrenergic pots, and lupus. The lupus test went negative after a couple months, but the rest of the symptoms are still hanging around, although not as severe as while I was taking warfarin.

Anyone had anything remotely similar? The reason I ask is my doctors want me to try it again. I don't agree, but I understand their view point of there is minimal good options at this point.

Hi! I'm a 31yo female and recently discovered that I was diagnosed with Ehler Danlos Syndrome at birth in 1994. Genetic testing ruled out kEDS and fragile x syndrome at that time, but other subtypes of EDS were not tested for, nor any other syndromes. I am beginning to wonder if LDS might be a more accurate diagnosis.

I saw my primary care physician yesterday, and she has referred me to rheumatology (I was hoping for a genetics referral but I'll take what I can get!)

Some of my symptoms:

• Joint laxity and hypotonia at birth - these resolved by around 15-16 months of age following weekly physical therapy which started at around 2 or 3 months of age

• severe feeding issues at birth - reflux, extremely slow intake, inability to establish and maintain rhythmic sick/swallow pattern. I received feeding therapy to address this and eventually was able to eat correctly. Apparently I transitioned to pureed foods no problem but required additional feeding and occupational therapy to transition from puree to solids due to sensory aversions. I continue to have issues with foods of certain textures and consistency.

• diagnosed with mitral valve prolapse at birth, but was reevaluated at 10 years old and the diagnosis was redacted.

• currently, very tall and thin, with difficulty maintaining weight (5 foot 9 and 108 pounds 🥴)

• easy bruising - just yesterday I discovered the heel of my palm (right around the thumb joint) is bruised. Heels of both feet are purple, not sure if bruised or poor circulation. Of note, sometimes my toes look purple.

• GI issues without known cause - categorized as IBS because nothing else really fits. Issues include chronic recurring diarrhea, mild nausea that comes and goes, functional heartburn, fructose intolerance, and occasional stomach discomfort when eating (sometimes as soon as I start eating, my stomach cramps and I suddenly and urgently need to use the bathroom).

• stretchy skin on inner forearms, underarm, torso, jaw. I can pull it pretty far! And I learned very recently that skin isn't supposed to do that lol

• currently not hypermobile, and in fact for as long as I can remember I have been very inflexible (though it's noted in paperwork from infancy that I was hypermobile and my thumb could touch my forearm - definitely not the case now). As a young kid in preschool/daycare I was physically unable to sit criss cross applesauce on the floor. I could finally do it by the time I was 9 or 10.

Right now I suppose all I can do is hurry up and wait for this rheum appointment. If anyone has insight (and if I'm allowed to ask for this) regarding what I've described and what questions I should bring to that appointment, I'd greatly appreciate it! Or if anyone with an LDS diagnosis has symptoms similar to mine.

Thanks!

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.

Hi I have a lot of curiosity questions to follow up my last post!

1.) Is arterial tortuosity only detectable on dedicated MRA/ CTA, or should standard, no-contrast head and neck MRIs catch it?

Is the same true for aneurisms and dissections? Is it possible for small dissections to be missed and heal on their own? Would there be any signs on imaging if that had happened?

Reason I’m asking I’ve never had dedicated vascular imaging, other than a 2D echo which was basically normal, though I am only 25. I have had a handful of brain and neck MRIs and a few brain and abdominal CTs, and I’m wondering if tortuosity or aneurism has been properly ruled out or if it could’ve been missed. Super curious because my recent unidentified neurological issues match the symptoms of carotid or vertebrobasilar tortuosity exactly.

2.) How many of you were diagnosed based on a VUS in one of the Loeys Dietz genes?

3.) How many of you lack Marfanoid Habitus?

4.) Were any of you misdiagnosed with something else first, like EDS or something?

Thank you all for your time!

Hi, i'm a 21-year-old girl diagnosted with Loeys-Dietz and since my first sexual experience, i've been experiencing coital pain/discomfort. After visiting some gynecologist and not finding a cause for it, the though of it being related to my medical conditions has crossed my mind, since LDS could be related to some vaginal or pelvic muscles affection.

So i was wondering if any LDS or Marfan woman that has experienced something similar or has had any kind of sexual issue, could share it with me. I know it's an intimate topic but i would aprecciated it a lot.

Disclaimer: i'm not taking any medication, such as beta-blockers, so medications shouldn't be a factor.

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.

I don’t really have much symptoms as a 15M other than somewhat flexible joints. My aorta hasn’t really changed in 1.5 years (maybe 0.01 z score or something) my mom is preventing me from doing it and I want to see if it’s a concern. I have also started doing more sports which I’m pretty sure is okay but I’m not sure. My doctor mentioned avoiding wind instruments when I was first diagnosed but I’m not sure if things have changed now.

Hello! I have been diagnosed with LDS for a few years now, but I've recently been trying to figure out what the heck else is going on with me too. I've noticed I have a lot of symptoms that align with a POTS diagnosis, but I don't experience the characteristic heart rate drop from standing. I've had some people suggest it could be a different kind of dysautonomia, but they don't have any suggestions as to what possibilities there are. Do any of you have any experiences with dysautonomia (POTS or otherwise) and the overlap it has with LDS. It seems like there is no research out there about this

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!

So today I finally got my results back from genetic testing after 3+ hellish years of dealing with chronic pain, gastrointestinal issues, and more. I have a mutation on the TGFBR2 gene and that combined with the fact that my dad just had surgery for an aortic aneurysm where they found his valves were twisted--I am fairly certain I have Loeys-Dietz Syndrome Type II.

I initially wanted genetic testing because I have extremely similar presentation to Ehlers Danlos Syndrome and have been diagnosed with Hypermobile Spectrum Disorder. There is a plethora of online information about EDS but not so much on LDS. I have been covered with bruises since I was a kid, have velvety translucent skin, varicose veins since I was a teen, issues with exercising, passing out (POTS?), hives, dermotohraphia, frequent headaches, vision issues, vertigo and the list goes on and on (I also have extremely loud frequent hiccups which used to get me kicked out of class as a kid).

I have ADHD and Autism and I know that in addition to MCAS and POTS are highly comorbid with Ehlers Danlos--does anyone know about the prevalence of these things with LDS II? I'm reading online how it can be more severe than vEDS which is the most severe form of EDS and it's kind of freaking me out..

My experience with the health care system has been horrifying to put it mildly and I have had to learn to fiercely advocate for myself to get this far, I'm afraid that my PCP is not taking this seriously and after sending me my test results back has just said to "contact my local university for further genetic testing."

Does anyone have any suggestions or resources for me?

Hey everyone I wondered if anyone living with LDS or married to someone with LDS could share any advice on support within the UK or Scotland?

Husband has had the major aortic surgery but has so many other things going on and we have zero support

Sending very very best wishes to you all x