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Hive geneticists or weird syndrome or Autoimmune people!


ktgrok
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Putting hive wisdom to work! Spin off of my thread about praying for my DH. 

Any thoughts on this conglomeration of stuff, in my DH? Family history of migraines, depression, anxiety and his sister recently had sudden heart failure and a heart transplant. i do NOT ahve specifics on that, thought was it was thyroid related at the time. 

He has a history of GI issues that SCREAMED celiac but isn't (I think they did biopsies at one point), skin issues - bad cystic acne plus now a weird growth like feature to the skin on his face....I haven't asked, plus cysts in other places, chronic headaches that are not quite typical migraines, pectus-excavatum severe enough to require surgery as a child but that reoccurred, keloid scarring, cardiomyopathy, and kidney failure diagnosed as IGA Nephropathy but that progressed much more seriously than most cases. 

Oh, kidney issue was diagnosed late teens after an incident of hematuria. Cardiomyothpahy was "idiopathic" and happened in his mid twenties. At the time was told 1/3 get worse, 1/3 stay the same, 1/3 get better. He stayed the same a while, then got much better, but now is worse. 

Plus depression/anxiety/ADHD. 

Marfan was ruled out, but he has the phenotype. Tall chronically underweight, think 6'2 and usually around 135 pounds. 

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Oy!

What is his general diet? The GI issues, cysts, depression/anxiety and possibly migraines could be related to his microbiome. He can get a snapshot and general idea of which microbes he has in his gut by participating in the American Gut Project. They send you a kit to collect a sample from poo, which you get from after wiping (I know, TMI!), send it to the lab and in a few weeks or so, you should get the results. Cost is about $100. I believe you can also swab skin as well.

Possibly the pectus-excavatum is causing problems. Here's a case where it was causing cardiovascular problems later in life with no known cause initially, how it was connected to the pectus-excavatum and how it was corrected.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3029481/

Is the growth on his face skin or bone? Some people have growths of bone on their skull that look like bumps and even horns on their heads. These are called osteomas. It could also be a lipoma which could feel rubbery and fixed or soft and squishy. Both are benign.

What about Ehlers-Danlos? Has that been ruled out? There are different types of ED.

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 pectus-excavatum reoccurred!!!  What?!! I didn't know that was possible.

One of my son's have  pectus-excavatum and our doctors recommended against surgery when he was young.  By the time he hit 18 he was completely against it and I've always regretted not pushing a little harder.  His is very pronounced and I worry about his heart, even though it was sonogramed and checked out fine.  Anyway, for my son it is the only issue - but a mama worries.  

For your husband I agree with BeachGal... I'd start with investigating gut issues.   I hope you find some answers.  It sounds like he is miserable. 

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A lot of that sounds like things you can see with Ehlers Danlos. It is a connective tissue disorder that has a lot of commonalities with Marfan syndrome. Since you have connective tissue in every organ and organ system in your body, it can cause a myriad of different symptoms. 

Everything in your post is consistent with Ehlers Danlos. 

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5 hours ago, BeachGal said:

hat is his general diet? The GI issues, cysts, depression/anxiety and possibly migraines could be related to his microbiome. He can get a snapshot and general idea of which microbes he has in his gut by participating in the American Gut Project. They send you a kit to collect a sample from poo, which you get from after wiping (I know, TMI!), send it to the lab and in a few weeks or so, you should get the results. Cost is about $100. I believe you can also swab skin as we

 

Is this still possible to do?  I looked it up and it seemed like it was closed. 

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Ehler's Danlo doesn't quite seem to fit, as it usually is more arteries than cardiomyopathy, but it DOES seem to scream connective tissue disorder of some sort, doesn't it? Or perhaps a mitochondrial disease. I've emailed him my thoughts, both a list of things I think might be related, and those two terms, connective tissue disorder and mitochondrial disease. I also suggested he talk to a geneticist, is that right? Who deals with these things? 

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1 hour ago, BeachGal said:

Yes, a geneticist. He needs much better information than what he’s received.

Thank you! that's what I'm feeling. I mean, hello, no one has even explored the fact that his sister, his only sibling, also had sudden cardiomyopathy??? I had to be proactive and decided to take DS to a cardiologist for screening, exDh nor his doctors suggested doing so, even though screening is recommended for relatives!

These are the things I know about:

-Both he and his  sister have had cardiomyopathy leading to heart failure at a very early age, you starting in your twenties, her starting in her forties. 
-Pectus Excavatum
-Abnormal scarring - keloids
-Long term gastrointestinal issues including abdominal pain, starting when young and now ending in multiple bouts of pancreatitis
-Renal disease
-skin issues like cysts, etc
-difficulty gaining weight, bouts of loss of appetite
-anemia (possibly from renal disease but maybe autoimmune?)
 
Seemingly less related but worth considering:
-chronic headaches that are not very responsive to medication
-anxiety/depression/insomnia
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And...how does one find a geneticist that does this stuff? There is a genetic clinic at the hospital he is at, but at first glance looks like they do cancer stuff, and prenatal stuff, i don't see anything about this kind of thing. 

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9 minutes ago, Ktgrok said:

And...how does one find a geneticist that does this stuff? There is a genetic clinic at the hospital he is at, but at first glance looks like they do cancer stuff, and prenatal stuff, i don't see anything about this kind of thing. 

 

Going by what we've been going through with an adopted child, I'd say check Gainesville.  We're in a different state, but here the only department is the one affiliated with the largest medical school in the state. 

Since Ehlers Danlos has been ruled out but is close, you might still want to specifically follow the links to the specialists for that at UF.

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Our pediatrician helped us to get an appointment when dd10 was a baby.  The appointment was at a large medical center in a nearby city.

Katie, I will say that your posts scream genetic disorder to me.  I have a genetic disorder called Noonan Syndrome.  Many of the symptoms that you are describing are similar to what I experience.  (Except I'm short.)  I think that you should definitely keep working on this until you have a diagnosis.

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32 minutes ago, Junie said:

Our pediatrician helped us to get an appointment when dd10 was a baby.  The appointment was at a large medical center in a nearby city.

Katie, I will say that your posts scream genetic disorder to me.  I have a genetic disorder called Noonan Syndrome.  Many of the symptoms that you are describing are similar to what I experience.  (Except I'm short.)  I think that you should definitely keep working on this until you have a diagnosis.

Thank you. It's helpful to know I'm not crazy for thinking this! What actually started all this (well, not all of it, the pectus excavatum, keloids, and digestive issues were earlier), was I saw a documentary on Marfan syndrome and they all looked like my husband. It was eerie. So I forced him to see a doctor who found things didn't sound right and sent him to a cardiologist for an echo. Turns out, no, he doesn't ahve Marfans (and aorta was fine, which is what is effected in Marfans) but he had cardiomyopathy!!! At first it wasn't too bad, but then he went into heart failure and was in and out of hospitals, then it stabilized again. But anyway, if I hadn't seen that documentary and insisted he be seen I'm not sure what would have happened. So I don't discount my instincts anymore!

 

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I would add polycystic kidney disease to the list of connective tissue disorders to rule in or out. There are both dominant (Autosomal Dominant Polycystic Kidney Disease) and recessive presentations. It's one of the more common genetic disorders. Some people are completely clueless about the cardiac manifestations or connective tissue manifestations that go along with it--I think the kidney issues tend to overshadow all of that. This runs in my DH's family, but thankfully, he does not have it. His two siblings do. One of them has some Marfanoid features, and the other has Loeys-Dietz features! Neither have had genetic testing because they had definitive hallmarks of ADPKD. People with ADPKD are at risk for multiple cardiac issues as well as brain aneurysms. The literature really does not emphasize the connective tissue nature of the disorder, but literally more articles come out every year with "Oh, it appears Connective Tissue Problem X is more common with ADPKD than we thought..."

It's very, very possible to have MORE THAN ONE genetic disorder running through the family, and a person can have multiple disorders themselves, like bicuspid aortic valve and Marfan Syndrome. My son had a risk of at least two different kinds of cardiac genetic disorders based on family history (which gets more highly suspect each year for "tip of the iceberg"), and he ended up having Marfan Syndrome, but we have no positive family history (but we have lots of unexplored history of WEIRD). He also has a "variant of uncertain significance" for an additional cardiac genetic condition! Our family at large has tons and tons of connective tissue quirks--everything from lipomas, hernias (every kind), aneurysms (every kind), ruptured esophagus/intestines, you name it, plus lots of bicuspid valve issues. Even with frank cardiac malformations popping up and a history of lots of dead babies in a family with rampant valve issues, no one was really referred for genetic testing or even much screening. It really makes me upset. 

Marfanoid habitus is very common with connective tissue disorders and with other cardiac genetic conditions. 

https://www.cincinnatichildrens.org/service/c/cardiomyopathy/genetic-testing

Testing will be determined at least partly by what kind of cardiomyopathy your exDH and his sister have. 

I think most cardiologists do not have an interest in genetics. You need to find a Cardiac Genetics department at a big hospital and/or a Connective Tissue Clinic. Ideally, if you can find a facility that has both, you will be in good hands. Believe it or not, it can be easier to get into the cardiac genetics programs than the CT clinics, and in some hospitals, the CT people deal with Ehler's Danlos, but the cardiac genetics people deal with Marfan. Ask lots of questions wherever you call and consider getting on multiple waiting lists. 

Some of these disorders are getting total overhauls of their diagnostic criteria due to advances in genetic research. 

And if your exDH ends up having aortic dilation at some point, there are standards for how that is accurately measured, and it's shocking how often those standards are not only NOT KNOWN by cardiologists, but then, not followed. (For instance, a specialized CT scan for the aorta is great, but it's not completely accurate unless it's done with gating and accompanied by 3-D reconstruction using the data gleaned by the test--so say the cardiologists at The Cleveland Clinic.)

So, your son needs a cardiac screening regardless of what is or is not known for sure about your exDH.

Edited by kbutton
Oops, exDH...
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On a side note, sometimes PT and/or OT techniques can help with pectus deformities or the effects of them. My son has some OT with a Massery-trained OT, and he is currently having therapy from a PT well-versed in connective tissue disorders. He has both scoliosis and pectus deformity, but the PT seems to be making a difference with both. 

http://www.masserypt.com/about/

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