Ehlers-Danlos Syndrome -stretch marks on DS's back?

[IfIOnly]

DS had an appointment with a new doctor today to discuss back pain, and she suspects DS has this. He'll (and now me too) have further testing this Thursday. When DS took off his shirt for her to inspect, she noticed the stretch marks across his back. I guess stretch marks without significant weight gain was concerning for her along with his pain and hyper-flexibility issues. 

Never heard if this disease before, and it's heridtary. I was always the most flexible when we'd do testing at school and I do have a lot of the symptoms. DH actually tore my skin giving me a massage last night, which was a first. Weird timing. 

I guess we'll find out soon enough. I guess abstaining from certain activities (like lifting heavy things and high impact exercise) and physical therapy and sometimes drugs are the treatments, but there's no cure. If it's more serious with vascular issues, there can be more serious and life expectancy issues.

Any experience while we wait? Thanks 

[Beth S]

Our son and his friend both grew a lot in puberty & had stretch marks on their backs.
We had no idea what could cause that scarring, until the 2 guys went swimming together & noticed they both had stretch marks in the same way.

This single symptom was not EDS.

ETA = Both boys were medium build.

Edited December 29, 2020 by Beth S

[TrulySusan]

Both of my sons had stretch marks on their backs that were fairly alarming the first time I saw them. One was mildly overweight as a young teen but the other is super thin. Neither have EDS.

[Lecka]

But there is pain and hyper-mobility also mentioned.  It’s not just stretch marks.  

[Junie]

I don't know much about Ehlers-Danlos, but I knew a family that has it through several generations.  

The stretch marks, hyperflexibility, and tearing skin would definitely have me getting this checked.  In fact, I think that you and your son and all of your other children should be evaluated for this, including a cardiac exam.

There are several types of Ehlers-Danlos; the family that I knew does have the vascular type.  Assuming that the five children in your children are your biological children, that gives hope that your family has a more mild form of the disease.  Pregnancy is really risky for women with vascular Ehlers-Danlos.

[Ottakee]

I have a good friend with EDS, as does her 18 year old daughter.   The skin tearing was her first symptom.  She does have the hyperflexibility and pain as well.

[itsheresomewhere]

DS has Marfans. He has the stretch marks, very skinny, skin issues and hyper flexible.  
 

Edited December 29, 2020 by itsheresomewhere

[IfIOnly]

14 minutes ago, Beth S said:

Our son and his friend both grew a lot in puberty & had stretch marks on their backs.
We had no idea what could cause that scarring, until the 2 guys went swimming together & noticed they both had stretch marks in the same way.

This single symptom was not EDS.

ETA = Both boys were medium build.

 

12 minutes ago, TrulySusan said:

Both of my sons had stretch marks on their backs that were fairly alarming the first time I saw them. One was mildly overweight as a young teen but the other is super thin. Neither have EDS.

I'm glad you weighed in. The doctor did make it sound like stretch marks were on the unusual side, but DS's best friend has them too. They're both think without any major weight fluctuation issues. It's good to know they can be perfectly normal too. 

[IfIOnly]

10 minutes ago, Lecka said:

But there is pain and hyper-mobility also mentioned.  It’s not just stretch marks.  

Yes, it's the combo that's the most concerning.

[gardenmom5]

My sister has been diagnosed with it.

[IfIOnly]

25 minutes ago, Junie said:

I don't know much about Ehlers-Danlos, but I knew a family that has it through several generations.  

The stretch marks, hyperflexibility, and tearing skin would definitely have me getting this checked.  In fact, I think that you and your son and all of your other children should be evaluated for this, including a cardiac exam.

There are several types of Ehlers-Danlos; the family that I knew does have the vascular type.  Assuming that the five children in your children are your biological children, that gives hope that your family has a more mild form of the disease.  Pregnancy is really risky for women with vascular Ehlers-Danlos.

Okay, that's good to know and reassuring about pregnancy. Nothing out of the ordinary there. Thanks for mentioning the cardiac exam. I do have weird out of breath symptoms a few other related things that give me pause. Could just be out of shape and nothing serious, but probably worth looking into.

I read there's a 50% chance of passing it on to children. My 12 year old in particular is crazy flexible. He also has bad scarring as do my other children.  You're right about getting everyone tested.

One possible symptom I have is horrible wrinkling. I look at least 10 years older than I should and much older than anyone else my age. Very self conscious about this. 

Edited December 29, 2020 by IfIOnly

[IfIOnly]

29 minutes ago, Ottakee said:

I have a good friend with EDS, as does her 18 year old daughter.   The skin tearing was her first symptom.  She does have the hyperflexibility and pain as well.

The doctor said it is more common in women but not unheard of in men. I'm sorry your friends have this. 

Edited December 29, 2020 by IfIOnly

[Harriet Vane]

I have EDS, as do my sister and niece. I suspect others in my family have it as well.

The absolute best advice I can give you, after long, hard experience, is to embrace serious exercise as a way of life, especially weight training and core strengthening. It is the only thing I have found that keeps pain at a minimum and improves joint stability. While it is true that subluxations in certain joints may prevent certain kinds of exercise for individuals, as a whole you need--desperately need--strong muscles to compensate for what your weak, dysfunctional connective tissue does not do.

I will add that the need for serious, ongoing exercise is not understood by doctors. Often they are willing to prescribe a little PT for an injury, but EDS is not well understood by most doctors who are not EDS specialists. They tend to badly underestimate both the need for exercise and the many, many ways EDS affects functioning.

One course to investigate is the Muldowney Protocol for exercise. 

 

[IfIOnly]

22 minutes ago, itsheresomewhere said:

DS has Marfans. He has the stretch marks, very skinny, skin issues and hyper flexible.  
 

I had to look it up. I hope his heart is okay. How is his everyday life affected? Hugs.

[Ottakee]

9 minutes ago, IfIOnly said:

The doctor said it is more common in women but not heard of in men. I'm sorry your friends have this. 

Her brother does have it as well.

[historically accurate]

My 18 yo DD's doctor discussed it with her just last week. DD is having joint popping out of place problems. Her knuckles are moving around. She will probably be tested over the summer. 

We've suspected for a while several of us have EDS (me, brother, mother, 2 of my DD's), but we haven't had a doctor say anything more than that was interesting. Younger DD has POTS, which is a common co-morbidity with EDS. 

 

[Ottakee]

18 minutes ago, Harriet Vane said:

I have EDS, as do my sister and niece. I suspect others in my family have it as well.

The absolute best advice I can give you, after long, hard experience, is to embrace serious exercise as a way of life, especially weight training and core strengthening. It is the only thing I have found that keeps pain at a minimum and improves joint stability. While it is true that subluxations in certain joints may prevent certain kinds of exercise for individuals, as a whole you need--desperately need--strong muscles to compensate for what your weak, dysfunctional connective tissue does not do.

I will add that the need for serious, ongoing exercise is not understood by doctors. Often they are willing to prescribe a little PT for an injury, but EDS is not well understood by most doctors who are not EDS specialists. They tend to badly underestimate both the need for exercise and the many, many ways EDS affects functioning.

One course to investigate is the Muldowney Protocol for exercise. 

 

Thanks for sharing this   i have a friend with EDS and shared this with her.   She said that she has been on her own with doctors and no one around here really understands EDS.

[IfIOnly]

14 minutes ago, Harriet Vane said:

I have EDS, as do my sister and niece. I suspect others in my family have it as well.

The absolute best advice I can give you, after long, hard experience, is to embrace serious exercise as a way of life, especially weight training and core strengthening. It is the only thing I have found that keeps pain at a minimum and improves joint stability. While it is true that subluxations in certain joints may prevent certain kinds of exercise for individuals, as a whole you need--desperately need--strong muscles to compensate for what your weak, dysfunctional connective tissue does not do.

I will add that the need for serious, ongoing exercise is not understood by doctors. Often they are willing to prescribe a little PT for an injury, but EDS is not well understood by most doctors who are not EDS specialists. They tend to badly underestimate both the need for exercise and the many, many ways EDS affects functioning.

One course to investigate is the Muldowney Protocol for exercise. 

 

This is immensely helpful. Thankfully, we just started seeing an integrative doctor. Hopefully, she'll be at least a little more holistic when it comes to treatments, if need be. I will do my own research as well regarding the sentence I bolded. Thank you!!

[historically accurate]

19 minutes ago, Harriet Vane said:

I have EDS, as do my sister and niece. I suspect others in my family have it as well.

The absolute best advice I can give you, after long, hard experience, is to embrace serious exercise as a way of life, especially weight training and core strengthening. It is the only thing I have found that keeps pain at a minimum and improves joint stability. While it is true that subluxations in certain joints may prevent certain kinds of exercise for individuals, as a whole you need--desperately need--strong muscles to compensate for what your weak, dysfunctional connective tissue does not do.

I will add that the need for serious, ongoing exercise is not understood by doctors. Often they are willing to prescribe a little PT for an injury, but EDS is not well understood by most doctors who are not EDS specialists. They tend to badly underestimate both the need for exercise and the many, many ways EDS affects functioning.

One course to investigate is the Muldowney Protocol for exercise. 

 

This is what DD18's doctor told her. Find something you love to do, add in weight training, and do it consistently. 

[IfIOnly]

10 minutes ago, Ottakee said:

Her brother does have it as well.

I meant to write not unheard of. 🤦 Thank you!

[itsheresomewhere]

6 minutes ago, IfIOnly said:

I had to look it up. I hope his heart is okay. How is his everyday life affected? Hugs.

His heart is fine.  He gets a yearly check on it.  It hasn’t affected his life yet and we plan to keep it that way for as long as possible.  Exercise has made a difference in keeping his joint pain to a minimum. He is very involved in figure skating, modified TKD and swimming during the summer. Plus, he takes a couple of supplements to help his joints.  He thinks it is neat he can become a human pretzel and creep out his friends. LOL. 
 

[Ottakee]

2 minutes ago, historically accurate said:

This is what DD18's doctor told her. Find something you love to do, add in weight training, and do it consistently. 

My friend took up horseback riding showed and now runs her own show barn.   That physical activity has kept her going way longer than doctors ever thought she would be walking....she is doing 10 miles a day backpacking too.

[IfIOnly]

11 minutes ago, historically accurate said:

My 18 yo DD's doctor discussed it with her just last week. DD is having joint popping out of place problems. Her knuckles are moving around. She will probably be tested over the summer. 

We've suspected for a while several of us have EDS (me, brother, mother, 2 of my DD's), but we haven't had a doctor say anything more than that was interesting. Younger DD has POTS, which is a common co-morbidity with EDS. 

 

I hope your DD gets some answers soon. I'm sorry she's not feeling well.

DS 17 (who saw the doctor today) has Raynaud's like symptoms that I wonder might be related somehow. His hand get very purple and hurt in the cold.

I looked up POTS. Most of that sounds very familiar for me. Has your DD ever actually fainted? I have not. That would be scary for a child and loved ones.

Thank you.

[kbutton]

Another Marfan mom chiming in. One of my kids has it (he’s doing very well). Your family needs to be screened for connective tissue disorders, and from there, for cardiac issues. The genetics get more clear all the time, but there is an overlap between connective tissue genetics and cardiac genetics, and it can be tricky to figure out which way is most appropriate to get this diagnosed. Not all geneticists check both directions, and the wait can differ even between genetic departments in the same facility. It is totally possible for this to be a connective tissue disorder not mentioned here yet, and it may or may not have cardiac involvement.

Hypermobility can sometimes have a pattern that points toward one disorder over another. 

Are you close to any tertiary medical facilities? You’re likely to want to go that route and shop around. An intrepid doctor might be willing to order a broad panel—Invitae or GeneDx are good companies.

The Marfan Foundation has expanded their community to serve individuals and families with Loeys-Dietz and vascular EDS. I highly recommend checking them out as one of your resources. They are amazing and well-connected. They have excellent webinars and resources. Chronic Pain Partners has webinars as well. The Marfan Foundation has a systemic score calculator that you can show your doctor as well. 

Finding a PT that understands CTDs is a huge help.

[kbutton]

9 minutes ago, historically accurate said:

This is what DD18's doctor told her. Find something you love to do, add in weight training, and do it consistently. 

Until you know whether there is cardiac involvement, you want to use small weights and avoid valsalva maneuvers (exertion while holding your breath, bearing down, etc.).

[IfIOnly]

7 minutes ago, kbutton said:

Another Marfan mom chiming in. One of my kids has it (he’s doing very well). Your family needs to be screened for connective tissue disorders, and from there, for cardiac issues. The genetics get more clear all the time, but there is an overlap between connective tissue genetics and cardiac genetics, and it can be tricky to figure out which way is most appropriate to get this diagnosed. Not all geneticists check both directions, and the wait can differ even between genetic departments in the same facility. It is totally possible for this to be a connective tissue disorder not mentioned here yet, and it may or may not have cardiac involvement.

Hypermobility can sometimes have a pattern that points toward one disorder over another. 

Are you close to any tertiary medical facilities? You’re likely to want to go that route and shop around. An intrepid doctor might be willing to order a broad panel—Invitae or GeneDx are good companies.

The Marfan Foundation has expanded their community to serve individuals and families with Loeys-Dietz and vascular EDS. I highly recommend checking them out as one of your resources. They are amazing and well-connected. They have excellent webinars and resources. Chronic Pain Partners has webinars as well. The Marfan Foundation has a systemic score calculator that you can show your doctor as well. 

Finding a PT that understands CTDs is a huge help.

Thank you, thank you! @kbutton This is wonderful info. I'm glad your DC is doing so well despite their challenges.

4 minutes ago, kbutton said:

Until you know whether there is cardiac involvement, you want to use small weights and avoid valsalva maneuvers (exertion while holding your breath, bearing down, etc.).

This makes a lot of sense. I've really struggled to exercise because my body reacts really weird with muscle and joint pain and a very high heart rate (just with walking too briskly) and out of breath stuff. So I just walk. 

[IfIOnly]

So this is something weighing now.

My dad's dad died very suddenly at a young age (my dad has no memories of him.) My dad was never sure how he died. I think he thought it had something to do with his heart. I've wondered if would be able to get more info looking for a death certificate at a government office?

My dad had strokes very young. At 45 was his first. He eventually gained most of his abilities back but died in a motorcycle accident at 49 going along a small bend in our city. He ended up in oncoming traffic and a cement truck hit him. It makes no. sense. that my dad didn't make that turn. He had been riding motorcycles since before I was born. My sister and I always wondered if he suffered some sort of physical problem that made him veer. He was out with a group of friends riding after church. The autopsy report showed no alcohol or drugs in his system. There were no bad road conditions.

I'm 43 and am starting to wonder if I should take my paternal medical history even more seriously. 

Edited December 29, 2020 by IfIOnly

[historically accurate]

36 minutes ago, IfIOnly said:

I hope your DD gets some answers soon. I'm sorry she's not feeling well.

DS 17 (who saw the doctor today) has Raynaud's like symptoms that I wonder might be related somehow. His hand get very purple and hurt in the cold.

I looked up POTS. Most of that sounds very familiar for me. Has your DD ever actually fainted? I have not. That would be scary for a child and loved ones.

Thank you.

DD is a chronic fainter. It is better with some meds. However, she fainted daily for a few months before we found the med combo that worked. 

[kbutton]

3 minutes ago, IfIOnly said:

I'm 43 and am starting to wonder if I should take my paternal medical history even more seriously. 

Yes!!! This stuff gets missed. My son’s Marfan Syndrome is due to a spontaneous mutation, but our family history of tons of aneurysms and heart defects made them sit up and take notice. The rest of the family doesn’t have a genetic diagnosis so far, but there is clearly at least one set of genetics and possibly two have the potential to be differentiated down the road (I think two families with heart issues intermarried based on some patterns). I noticed some oddities in our family, and then a distant cousin posted on social media about a family member having issues of the same kind. This led to examining the written family history for clues and questioning that relative. A strange combo of heart issues, aneurysms, blue babies, and sudden death goes back at least five generations. 

[Tap]

DD22 has EDS and POTS. I also recommend exercise. DD has always felt better when she is on a good regime. She did years of PT with an excellent therapist who taught her how to exercise and stretch, without overstretching. DD does yoga daily, but only after her PT taught her how to do it safely. She focuses on the poses for strength and stability, and avoids one for flexibility.  She also does weights, and cardio when she can. She loves to swim and hike for fitness as well.

DD gets weekly or bi-weekly deep tissue massages to manage her chronic pain and chiro on alternate weeks to keep her body in alignment. It was important for her to find doctors to manipulate her that understand EDS. We are not believers in long term chiropractic for most issues, but it is a game changer for dd. She gets out of alignment so easy, that having her go a couple times per month, really helps to keep her out of pain. 

DD has lots of scarring including stretch marks. I have offered to taker her to a plastic surgeon to see if they can fix a significant scar on her chest from a surgery she had. She agrees she needs to go, but is also reluctant because she is afraid they will make it worse. We have tried a lot of things for the scars, but nothing seems to help much. 

I hope you get a good diagnosis, one way or the other. The geneticist said dd didn't have it, but her ND says she does. Her ND is a very highly regarded ND who is a specialist in EDS so we believed her diagnosis.....and the symptoms fit. There is so much changing in the area of diagnosis on this illness that it can be hard to get good answers. 

[Ausmumof3]

I know two families with kids with it and both cases also have autism.  I have no idea if that’s just a totally random coincidence or if they cluster together.  One definitely had issues with joints hyper mobility etc.  

[ktgrok]

I'm glad you are taking it seriously. Before my ex husband passed away I was trying to get him to look into genetics and connective tissue disorders, but he didn't get around to it before passing away from congestive heart failure. He had pectum excavatum or whatever it s called where the rib cage is concave, crazy bad keloid scars, and developed cardiomyopathy in his 30s. HIs father also had the chest deformity, and his sister later developed cardiomyopathy as well, in her 40's, and was saved with a heart transplant. She also has no interest in doing genetic testing. Which leaves me with not knowing what could happen to my son, and the cardiologist we took him to for screening says that without knowing what my husband had, it would be pointless to do genetic testing on DS - too many genes that may or may not lead to actual disease I guess. 

[PeterPan]

5 hours ago, Ausmumof3 said:

both cases also have autism.

There's some discussion of overlap/comorbidity of EDS and ASD, yes. And you one step back the EDS and you get someone like me (low tone, slightly unusually flexible). Dd is even more so, downright floppy, and we've wondered if she would get the diagnosis. She usually seems to be almost but not quite on every label, haha. 

 

Edited December 29, 2020 by PeterPan

[PeterPan]

15 minutes ago, ktgrok said:

He had pectum excavatum

My father and my dh (obviously not genetically related) both have pigeon chest. Neither have heart problems, so it doesn't get brought up. I was surprised when I read it is an issue or indication of something. I'm not sure it has to be or always is. My dh definitely does NOT have EDS, lol. He's the most tight, scrunched joint person I know.

[Junie]

29 minutes ago, ktgrok said:

I'm glad you are taking it seriously. Before my ex husband passed away I was trying to get him to look into genetics and connective tissue disorders, but he didn't get around to it before passing away from congestive heart failure. He had pectum excavatum or whatever it s called where the rib cage is concave, crazy bad keloid scars, and developed cardiomyopathy in his 30s. HIs father also had the chest deformity, and his sister later developed cardiomyopathy as well, in her 40's, and was saved with a heart transplant. She also has no interest in doing genetic testing. Which leaves me with not knowing what could happen to my son, and the cardiologist we took him to for screening says that without knowing what my husband had, it would be pointless to do genetic testing on DS - too many genes that may or may not lead to actual disease I guess. 

Has your ds have any similar symptoms? Has he seen a geneticist?  If he has any symptoms/similar characteristics, I would absolutely try to make an appointment with a geneticist.

[Junie]

15 minutes ago, PeterPan said:

My father and my dh (obviously not genetically related) both have pigeon chest. Neither have heart problems, so it doesn't get brought up. I was surprised when I read it is an issue or indication of something. I'm not sure it has to be or always is. My dh definitely does NOT have EDS, lol. He's the most tight, scrunched joint person I know.

Two of my girls and I have a birth defect that involves chest malformation (pectus excavatum/pectus carinatum) and heart issues.  Some people with this birth defect have minor heart defects that can be outgrown.  So, even though they don't have heart issues now, it is possible that they had heart issues when they were younger that were minor and were missed and outgrown.

[ktgrok]

25 minutes ago, Junie said:

Has your ds have any similar symptoms? Has he seen a geneticist?  If he has any symptoms/similar characteristics, I would absolutely try to make an appointment with a geneticist.

DS has what would be called a marfanoid body type sort of, although not as much as his father did. His father the cardiologists all thought looked like he had Marfans, but he didn't. Aorta was fine, it was cardiomyopathy. And he has mild scoliosis. But that's the only symptoms so far. He has had an echocardiogram as a child for a functional murmur (was just very thin) and then again just a few years ago.  At that time the cardiologist also looked for any signs of connective tissue issues and asked a lot of questions regarding that, and found nothing to raise flags, thankfully. The cardiologist cleared him but suggested rechecking about every 5 years, just to be cautious, given his aunt and father's heart failure. Until not long ago they didn't think their type of cardiomyopathy was genetic...but now are seeing it run in families. And given the extreme odds of a brother and sister spontaneously developing it without a genetic condition...yeah. 

Edited December 29, 2020 by ktgrok

[sweet2ndchance]

I was diagnosed with EDS this year. It explains so much about the oddities of my body. I have severe scoliosis, stretchy skin, flexible joints, joints that dislocate for no apparent reason, and more. I have the hypermobility type, no vascular involvement. My oldest son was suspect for Marfan's, he is a tall, skinny bean pole, stretch marks, uber flexible... but it was concluded he didn't meet all the criteria. I suspect he still has EDS just not Marfan's syndrome. I also have tons of high functioning autism markers but of course since I wasn't diagnosed as a child (I should have been but it's a long story) getting a diagnosis as an adult is hard. At least one of my children also shows signs of high functioning autism.

 

[PeterPan]

14 minutes ago, sweet2ndchance said:

getting a diagnosis as an adult is hard.

Not really. Go see a psych who sees enough women with autism and they can get it done. You probably remember enough about your childhood for it to be obvious. They don't expect 40-something women to haul their mothers in to get the question answered.

[PeterPan]

7 minutes ago, Indigo Blue said:

but there’s a huge chance that, while this whole thing is potentially not completely benign, it’s also not that ominous.

Not necessarily. We had a college student in our state die after she got exposed to tear gas at a protest. https://www.nbc4i.com/news/autopsy-reveals-osu-grads-cause-of-death/  She had no clue she had EDS. So people can fly under the radar and have it cause them problems later. 

[Alicia64]

((IfIOnly))

I follow a fashion blogger who has EDS and talks about it often.

Just wanted to let you know that various podcasts have a person with Ehlers on to talk about their lives. These two guys are hilarious, have a rare disease themselves, and had an EDS guest on in this segment.

But I think lots of podcasts have had EDS guests on.

W.

Edited December 29, 2020 by Alicia64

[Harriet Vane]

As I read through the thread, I notice a fair amount of focus on looseness and flexibility. With EDS, the joints are more mobile and stretch beyond normal capacity. BUT while muscle tone may be loose, it is just as likely that there are tight, hard muscles as well. Muscle tension is a major source of ongoing pain for EDS sufferers because the muscles clamp down tight to hold the joints stable. Exercise and massage help—the stronger and thicker the muscles are in their resting state, the better able to hold joints in place. That’s the reason for strength training. Conversely, when a muscle has seized up super tight, then aerobic movement through the whole large muscle group eases the pain by getting the locked muscle system to relax. That’s also why massage or hot whirlpool soaks help.

[ktgrok]

3 minutes ago, Harriet Vane said:

As I read through the thread, I notice a fair amount of focus on looseness and flexibility. With EDS, the joints are more mobile and stretch beyond normal capacity. BUT while muscle tone may be loose, it is just as likely that there are tight, hard muscles as well. Muscle tension is a major source of ongoing pain for EDS sufferers because the muscles clamp down tight to hold the joints stable. Exercise and massage help—the stronger and thicker the muscles are in their resting state, the better able to hold joints in place. That’s the reason for strength training. Conversely, when a muscle has seized up super tight, then aerobic movement through the whole large muscle group eases the pain by getting the locked muscle system to relax. That’s also why massage or hot whirlpool soaks help.

That makes total sense...I have some issues with some loose joints (not EDS...just damaged from pregnancy/arthritis/who knows) and that is what I find. If the muscles are weak that load is transferred to the connective tissue and joints. 

[kbutton]

2 hours ago, ktgrok said:

I'm glad you are taking it seriously. Before my ex husband passed away I was trying to get him to look into genetics and connective tissue disorders, but he didn't get around to it before passing away from congestive heart failure. He had pectum excavatum or whatever it s called where the rib cage is concave, crazy bad keloid scars, and developed cardiomyopathy in his 30s. HIs father also had the chest deformity, and his sister later developed cardiomyopathy as well, in her 40's, and was saved with a heart transplant. She also has no interest in doing genetic testing. Which leaves me with not knowing what could happen to my son, and the cardiologist we took him to for screening says that without knowing what my husband had, it would be pointless to do genetic testing on DS - too many genes that may or may not lead to actual disease I guess. 

It is good that your son is being followed. As for not having Marfan without having had genetic testing, have you looked up the Ghent criteria (which had major and minor criteria) and the Systemic Calculator on the foundation’s website? If the doctors with these opinions were using those and using them carefully with an open mind, your son probably has something else, possibly diagnosable, or something yet to be figured out. This is worth keeping on the back burner as things change, or something worth contacting a genetic testing company for directly. They might be able to point you in the direction of a local doc that will order a panel. Also, some people with Marfan Syndrome don’t have aneurysms or have them in less typical places (brain).

The state of genetics is exploding with discoveries, but something like 75% of aortic aneurysm conditions that they KNOW are inherited still don’t have an identifiable gene yet! Also, some disorders have a lot of different presentations within the same family, so it takes more work to figure out what the pattern is. Connective tissue stuff is similar—still lots to be worked out. The EDS stuff was completely reclassified just a few years ago based on genetic testing.

Also, a geneticist told me that many people with one genetic anomaly have others. At that point, they try to identify what is likely pathogenic and what is a benign variation and what is uncertain. My son has not only a Marfan change but also a change in another gene that is implicated in another CTD.

Marfanoid habitus is extremely common in the CTD world.

2 hours ago, PeterPan said:

My father and my dh (obviously not genetically related) both have pigeon chest. Neither have heart problems, so it doesn't get brought up. I was surprised when I read it is an issue or indication of something. I'm not sure it has to be or always is. My dh definitely does NOT have EDS, lol. He's the most tight, scrunched joint person I know.

It can be a solo issue. Also, some people have areas of rigidity because of hyper mobility, though I think it’s less common in EDS. My son’s pattern of hyper mobility causes rigidity in some body areas. 

1 hour ago, Junie said:

Has your ds have any similar symptoms? Has he seen a geneticist?  If he has any symptoms/similar characteristics, I would absolutely try to make an appointment with a geneticist.

I agree. His dad’s history is still data too. Not everyone has every sign. My son’s signs are barely enough to get attention. .

Anyone looking at Marfan, BTW, needs to see Marfan literate eye professional who will look for lens displacement (60% occurrence and only one or two rare differential diagnoses). There are other eye signs like serious astigmatism and soft signs like accommodation issues or lazy eyes, etc. ( not definitive but common). 

53 minutes ago, Indigo Blue said:

If you were like this in high school and have done fine with no major problems all these years, the odds may be in your favor that your daughter will be the same. I feel that if your daughter has vascular involvement, you would have known this a long time ago as this is the most serious type. 

So, it’s totally possible to have the serious vascular EDS and not have a serious case of it. At the 2019 Marfan Conference, some of the researchers talked about vEDS, and they are finding that as more people are identified with vEDS, they are finding more and more people who have much milder forms of the disease.

With any disorder, the worst cases are always identified first. Eventually, if less severe disease is possible, it becomes more nuanced over time. Then, if it’s possible to prevent progression of a disease over time, that is where catching mildly affected individuals becomes really valuable. 

[Lecka]

https://www.spectrumnews.org/opinion/viewpoint/what-ehlers-danlos-syndrome-can-teach-us-about-autism/
 

Sharing an article from an autism website.  

[kbutton]

My DH’s side of the family has some kind of CTD, but people have not been curious enough to pursue a diagnosis or able to get the attention of docs. Many of these folks don’t have kids, so I think we won’t ever know. DH is not affected, and in one generation there are some half-siblings, complicating the picture. Anyway, he had a relative who had tons of aneurysms all over his body (even in his legs!) and tons of hernias. I suspect something like vEDS, but there isn’t a history of other people having vascular events. He was a smoker, and it’s possible that smoking took some mild form and ran havoc with it.

Besides avoiding smoking, fluoroquinolone antibiotics are contraindicated in some of these disorders, especially in Marfan and aneurysm-forming syndromes. It’s now known that they can be a primary cause of aneurysm formation, and being elderly makes it even more likely. Elderly in medical terms can be 60’s, so we’re not just talking about grandma and grandpa. 

[sweet2ndchance]

1 hour ago, PeterPan said:

Not really. Go see a psych who sees enough women with autism and they can get it done. You probably remember enough about your childhood for it to be obvious. They don't expect 40-something women to haul their mothers in to get the question answered.

Finding a psych around here who isn't a specialist in addiction is hard. I found one about 6 hours away but other stuff keeps trumping getting a diagnosis for something that just puts a name to something we already know.Then add to that the money to go do it, my bad experiences with psychs... sorry, I probably should have specified it is hard for me in my situation.

[ktgrok]

The issue with the familial cardiomyopathy is they have genes that seem to be associated - but plenty of people have those with no cardiomyopathy...they don't have a specific thing for sure yet they can pinpoint. Which is why they said genetic testing for DS was not advised. IF we knew that DH had a particular syndrome - which could be identified by symptoms PLUS genetics - we could look for those particular genes. But without that, it would be not helpful since DS doesnt' have symptoms of anything really. I'm hopeful that in a few years that may change. 

[ktgrok]

The issue with the familial cardiomyopathy is they have genes that seem to be associated - but plenty of people have those with no cardiomyopathy...they don't have a specific thing for sure yet they can pinpoint. Which is why they said genetic testing for DS was not advised. IF we knew that DH had a particular syndrome - which could be identified by symptoms PLUS genetics - we could look for those particular genes. But without that, it would be not helpful since DS doesnt' have symptoms of anything really. I'm hopeful that in a few years that may change. 

[IfIOnly]

Pectum excavatum - DS17 has this. I had no idea until reading your posts that it could be linked to EDS. After looking on the web, apparently there can be. One source says it "is often associated with EDS."