Ehlers Danlos Syndrome (EDS) & HSD, calling all types!

Posted by healthhopefreedom @healthhopefreedom, Dec 18, 2020

Hello,

I am looking for a community of EDS and HSD folks.

I am waiting a confirmatory second DNA test for Vascular Ehlers Danlos Syndrome. Currently I am experiencing weakness in the extremities, further slipping of joint articulation even while resting, unregulated body temp and blood pressure,
POTS, migraines, menstrual complexities, chronic widespread pain, fibromyalgia, and on the verge of depression.

Hi @healthhopefreedom,
Let me connect you with other members who have experience with Ehlers-Danlos Syndrome (EDS) and/or Hypermobile Spectrum Disorder (HSD) like @lovemyfamily2003 @katemschultz @lisafl @jthigpen @kariulrich @blossom2016, who have shared their experiences in these discussions:

– Ehlers Danlos Syndrome – Who is the best doctor to see? https://connect.mayoclinic.org/discussion/ehlers-danlos-syndrome-new-diagnosis-1/
– Chronic Erythema Nodosum & Ehlers-Danlos Syndrome (EDS) https://connect.mayoclinic.org/discussion/chronic-erythema-nodosum/
– Possible Ehlers-Danlos Syndrome with craniocervical instability https://connect.mayoclinic.org/discussion/possible-ehlers-danlos-syndrome-with-craniocervical-instability/

@healthhopefreedom, it sounds like you're at the beginning of confirming a diagnosis, but certainly not new to experiencing a wide range of symptoms. How long has this been going on? How are you doing today?

REPLY
@colleenyoung

Hi @healthhopefreedom,
Let me connect you with other members who have experience with Ehlers-Danlos Syndrome (EDS) and/or Hypermobile Spectrum Disorder (HSD) like @lovemyfamily2003 @katemschultz @lisafl @jthigpen @kariulrich @blossom2016, who have shared their experiences in these discussions:

– Ehlers Danlos Syndrome – Who is the best doctor to see? https://connect.mayoclinic.org/discussion/ehlers-danlos-syndrome-new-diagnosis-1/
– Chronic Erythema Nodosum & Ehlers-Danlos Syndrome (EDS) https://connect.mayoclinic.org/discussion/chronic-erythema-nodosum/
– Possible Ehlers-Danlos Syndrome with craniocervical instability https://connect.mayoclinic.org/discussion/possible-ehlers-danlos-syndrome-with-craniocervical-instability/

@healthhopefreedom, it sounds like you're at the beginning of confirming a diagnosis, but certainly not new to experiencing a wide range of symptoms. How long has this been going on? How are you doing today?

Jump to this post

Here’s a good article on the vascular type: https://www.ncbi.nlm.nih.gov/books/NBK1494/
This is a great support site for vEDS:
https://thevedsmovement.org/
There are also many area specific Facebook Support groups to help you connect with others near you. You can also find info, support and virtual groups at the Ehlers Danlos Society site: https://www.ehlers-danlos.com/
Hope this helps!

REPLY

First let me say that I am so sorry to hear that you have this syndrome, particularly the type you have. I have Classical-like EDS. I do understand your pain. I too have a myriad of painful situations. Try really hard not to settle into depression, it's hard to climb out. Be thankful for seeing, breathing, smiling. I try to think of the millions of homeless, hungry children – and that puts things into perspective for me – my problems don't seem so bad. Please let us know how you are doing.

REPLY
@colleenyoung

Hi @healthhopefreedom,
Let me connect you with other members who have experience with Ehlers-Danlos Syndrome (EDS) and/or Hypermobile Spectrum Disorder (HSD) like @lovemyfamily2003 @katemschultz @lisafl @jthigpen @kariulrich @blossom2016, who have shared their experiences in these discussions:

– Ehlers Danlos Syndrome – Who is the best doctor to see? https://connect.mayoclinic.org/discussion/ehlers-danlos-syndrome-new-diagnosis-1/
– Chronic Erythema Nodosum & Ehlers-Danlos Syndrome (EDS) https://connect.mayoclinic.org/discussion/chronic-erythema-nodosum/
– Possible Ehlers-Danlos Syndrome with craniocervical instability https://connect.mayoclinic.org/discussion/possible-ehlers-danlos-syndrome-with-craniocervical-instability/

@healthhopefreedom, it sounds like you're at the beginning of confirming a diagnosis, but certainly not new to experiencing a wide range of symptoms. How long has this been going on? How are you doing today?

Jump to this post

Hello @colleenyoung, thank you for the connections.

It's interesting. Yesterday and the day before, even though walking with a cane, I felt pretty good. I had upped my CBD intake and I feel that it helps.

However, today I woke up, was in the bathroom about 5 times already, and my whole body feels inflamed from the inside out. I can't predict when I will feel well and when I won't.

I did go back to work yesterday for the first time in over 3 months (limited to 4 hour shifts) and I was happy to be there. However, on days that I feel like this, I cant imagine working. I don't know what to do about it and I heard from someone in the RAM (Rare advocacy movement) that because someone was faking having EDS on the show Intervention, Disability claims are often thrown away and I truly do feel like this is a disability!

I just need some direction… I feel lost.

REPLY
@lisafl

Here’s a good article on the vascular type: https://www.ncbi.nlm.nih.gov/books/NBK1494/
This is a great support site for vEDS:
https://thevedsmovement.org/
There are also many area specific Facebook Support groups to help you connect with others near you. You can also find info, support and virtual groups at the Ehlers Danlos Society site: https://www.ehlers-danlos.com/
Hope this helps!

Jump to this post

I appreciate it. I do a ton of research even down to DNA sequencing for EDS. I have read just about every medical journal out there on EDS but I am always open to new research! I have joined many movements and groups and even donated to the EDS society from my job.

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@lifetimepain

First let me say that I am so sorry to hear that you have this syndrome, particularly the type you have. I have Classical-like EDS. I do understand your pain. I too have a myriad of painful situations. Try really hard not to settle into depression, it's hard to climb out. Be thankful for seeing, breathing, smiling. I try to think of the millions of homeless, hungry children – and that puts things into perspective for me – my problems don't seem so bad. Please let us know how you are doing.

Jump to this post

Thanks @lifetimepain, I recently connected with someone else that has Classical EDS. It seems so bad! I feel for you too. I am mostly worried about my mom and my son. They have it too. My son has serious coagulation issues and anemia and my mom just had a stroke right before her 51 bday. We're all in pain all the time but I just feel like its a death sentence. 🙁

REPLY

Hello, I almost never am logged in here anymore (in fact i had to reset my PW to login so I could reply to you) but mayo sent me an email recap of this week’s posts and I remember being in a very similar position to you in 2013. What is it that makes them think you have vascular EDS? Did you have vascular symptoms that lead them down this particular rabbit hole or are they just ruling out the one type of EDS they treat? Which Mayo are you seen at? (They are in various states and some have treatment for diseases others do not) Do you also have severe allergies?

Three main things I wanted to say: you will find your answers, you are not alone, and unless mayo has changed their policies since 2013 (let’s hope they do) they don’t acknowledge or treat anything BUT the type of EDS that is vascular. But you didn’t actually mention any symptoms that are vascular except perhaps pots. Are you on Facebook? There are MANY EDS support groups over on Facebook. You are less likely to run into EDS patients here since so few are treated in the mayo system. If you are in Phoenix, there is one doctor I was recommended to see who is a neuro muscular neurologist who actually does treat some EDS patients who are hypermobile type which doesn’t have a genetic test that recognizes it (yet) and there is another doctor outside the mayo system which is more highly recommended, something mayo doctors likely would not bother telling you. His name is Dr Saperstein. If you’re in a different mayo maybe you will have better luck than those of us who were in the Phoenix system did. Or maybe things have changed enough since 2013 or there is a new doctor there willing to treat people with non vascular EDS

A common issue for many people with EDS is to have “severe allergies” sometimes to unusual things or no IGE allergies and yet their body reacts as if allergic, including at times life threatening anaphylaxis to a variety of things. A common comorbidity with EDS is mast cell disorder of some type. Mast cells control over 250 cytokines in the body which control a variety of functions including but not limited to inflammation, phlegm production, asthma type symptoms, GI issues, rashes, bruising, neurological symptoms like migraines, slurred speech that comes and goes, etc. Very few doctors in mayo know how to test for let alone treat mast cell disorders but there are a few. Feel free to private message me if you would like to talk more about any of the above because I left the mayo system for better treatment plans that dug deeper into my EDS and what turned out to be Primary MCAS. I really don’t read this forum often at all (it’s been months if not years since my last login)

Hang in there, you will find answers. If they say you don’t have vascular EDS so we can’t treat you, or anything similar, You may need to find a doctor outside their system or even in a different state depending on where you are. But it’s doable as overwhelming and exhausting as the process can be, you can find respectful, professional, effective doctors who be A good fit for you and will do their best to help you figure out causes and treat your symptoms. At this time there isn’t a cure for EDS, so they mainly treat symptoms, and there are several comorbidities with it, POTS is one (like you mentioned having) Mast cell disorders of some sort are another, and there are others. There are also other causes of hypermobility than EDS, so if they rule that out there are other possibilities that need to be looked I ItP. It can take a while to find the right doctor for each person, but you can. There is light at the end of the tunnel.

Best wishes,
Sean-Michael

REPLY
@healthhopefreedom

Hello @colleenyoung, thank you for the connections.

It's interesting. Yesterday and the day before, even though walking with a cane, I felt pretty good. I had upped my CBD intake and I feel that it helps.

However, today I woke up, was in the bathroom about 5 times already, and my whole body feels inflamed from the inside out. I can't predict when I will feel well and when I won't.

I did go back to work yesterday for the first time in over 3 months (limited to 4 hour shifts) and I was happy to be there. However, on days that I feel like this, I cant imagine working. I don't know what to do about it and I heard from someone in the RAM (Rare advocacy movement) that because someone was faking having EDS on the show Intervention, Disability claims are often thrown away and I truly do feel like this is a disability!

I just need some direction… I feel lost.

Jump to this post

It is not uncommon for people with connective tissue disorders (and/or several other disorders) to have days they feel better and often to overdo on those days. Then wake up feeling like a train ran them over the next day and it can take days to weeks to recover from overdoing it. Learning the balance between pushing myself to do the most i can without crossing the line into overdoing has been a tough one for me, but it’s doable.

REPLY
@healthhopefreedom

Thanks @lifetimepain, I recently connected with someone else that has Classical EDS. It seems so bad! I feel for you too. I am mostly worried about my mom and my son. They have it too. My son has serious coagulation issues and anemia and my mom just had a stroke right before her 51 bday. We're all in pain all the time but I just feel like its a death sentence. 🙁

Jump to this post

Vascular EDS does cause those symptoms and other things can too. If you already know your mom and son have vascular EDS it’s no wonder they’re testing you for it. But if you suspect they have it and find out actually that none of you do, don’t give up there are other causes of such symptoms as I said, and they can be treated, some more effectively than EDS. The most recent thing doctors found which can cause a myriad of diverse symptoms that some people with EDS like symptoms have is Hereditary alpha Tryptasemia and or the related Syndrome (affectionately called HaTS)

You know, there is hope no matter what your diagnosis. I had a friend who swore she and her daughter had vascular EDS and pointed me towards my own diagnosis. Turned out they have another even more rare connective tissue disorder, but treatments were easier to find, and their illness was taken seriously immediately upon diagnosis. The good news if you do have vascular EDS is Mayo has years under their belt of treating other people with it so you are in the right place if so. Fingers crossed you find your answers and find a better baseline soon. Ii’m glad to see others have pointed you to some good people and places for support.

REPLY
@smbryce1

Vascular EDS does cause those symptoms and other things can too. If you already know your mom and son have vascular EDS it’s no wonder they’re testing you for it. But if you suspect they have it and find out actually that none of you do, don’t give up there are other causes of such symptoms as I said, and they can be treated, some more effectively than EDS. The most recent thing doctors found which can cause a myriad of diverse symptoms that some people with EDS like symptoms have is Hereditary alpha Tryptasemia and or the related Syndrome (affectionately called HaTS)

You know, there is hope no matter what your diagnosis. I had a friend who swore she and her daughter had vascular EDS and pointed me towards my own diagnosis. Turned out they have another even more rare connective tissue disorder, but treatments were easier to find, and their illness was taken seriously immediately upon diagnosis. The good news if you do have vascular EDS is Mayo has years under their belt of treating other people with it so you are in the right place if so. Fingers crossed you find your answers and find a better baseline soon. Ii’m glad to see others have pointed you to some good people and places for support.

Jump to this post

Hello @smbryce1, thank you for your responses. Yes, let's connect, whether professionally or as a friend. I am part of a movement called the Rare Advocacy Movement and we have a platform where we connect and discuss living with rare diseases if that suits your interests! I don't have social media but I am open to keeping in touch!

I am going to Jacksonville Mayo Clinic because it is closest to me. I know I have PFO and other congenital abnormalities including Medullary Sponge Kidney disease and Mild Hydrocephalus with Absence Septum Pellucidum and I didn't find any of this out until I got an equivocal Lyme Disease titer after a bite in 2015. I've had joint pain since I was 8 and I have had shoulder and hip dislocations on and off since I was about 15. I am going to be 30 next summer. I have ribs that pop out of place constantly and put pain in my chest and back. I can't walk without doing weird things to pop my hips and ischium area several times per day. I go WAY PAST hard end feel when it comes to my elbows and they pop very loudly 3 times at once when I extend them daily. I have to pop my chest and shoulders in several places or I get stuck in positions daily. I'm going into this phase of stiffness that I didn't use to have so often. My hands hurt so bad it hurts to hold my steering wheel and I have a padded cover with places for my hands. I just ache and ache and ache.

As for VEDS, I don't know for sure if my son and mother have it. I am certain they are hypermobile though. You can see through all of our skin as well. I will upload some photos of my son.

**What makes me think I have VEDS?*** Well, I knew nothing of EDS until I went to Mayo Clinic after seeing 7 neurosurgeons for my neck pain. The PA Neurologist noticed I was hypermobile and sent me to the EDS Clinic. While waiting for the clinic appt I had plenty of time to research. I found the criteria for hEDS and HSD and thought that sounds just like me! If I had my mom or son evaluated, I would have met all 3 criteria for hEDS but in part B I did not because I didn't have that testing done on my family yet so The EDS Clinic in Jacksonville Dr. Knight, left it as HSD until my appt on Jan 19 where we discuss the "confirmatory" DNA results from the test he ordered from Invitae.

Now…I had a DNA test that was done prior to this that said I have an Autosomal Dominant Variant of Ehlers Danlos Syndrome – Type 4 that my child is 100% likely to inherit and I am an affected carrier. But I couldn't log into the dang test at the EDS Clinic appt so I opted for their DNA test for $250. Of course, 1 day later I was able to log in to my data again….. (pics attached)

I am just going based on my Family History of dying early and our continuous vascular complications, chronic pain (especially thoracic, hands, neck, spine, joints, hips) + my Raw DNA data uploaded to GenoMapp showing EDS-4. Mayo used Invitae to do my DNA testing and they said they found benign variants on that exact marker I gave them but I submitted evidence from Clinvar Database that it's linked to pathogenic and they are going to be having their analyst team look deeper.

**Do I have allergies?** YES. In recent years, in 2019, my body decided suddenly it was allergic to some of my favorite things, coffee, chocolate, eggs, wheat, yeast, corn, and lots of medications. I think it may be MCAS but I have still to do my 24/hr urine analysis for it. My IgE has been in the 660s before and recently it was in the 270s. Almost all of my labs are always normal. I have had a history of High CRP and Sed Rates though. Same with my son.

I am looking for hope for sure. Living like this, with an almost invisible illness, contradicting answers, and the inability to have ever had a normal life is taking a toll on me. It's honestly miserable to be alive and I have so much ambition and big goals and every time I get started, I end up stuck again from the illness or injures from it, which literally stops me in my tracks. (pic attached of what it can be like on bad days)

I'm sick and tired of being sick and tired. I also want to get answers for my family. My mom is concerned because she is at the same age her brother died and she just had a stroke. My son is ALWAYS in pain and I feel so bad because he's only 8. We both had dislocations in a car accident 3 years ago and I feel like we just haven't recovered. My neck continues to slip further in my sleep (at rest!) and I have yet to have any doctor advise me on what to do next time it happens. It leaves me completely immobilized and this last time I couldn't get out of bed for 3 weeks, when I finally did, my legs decided not to work and I'm still struggling on and off with that and it's been over 3 months.

REPLY

@smbryce1, As for the symptoms, I will list them below:

EDS Criteria Symptoms:

Beighton 7/9
-Hands can touch floor
-Bend thumb to forearm
-Splits, Contortions
-Shoulder/Knee dislocated
-Velvety Skin
-Stretch Marks (Terrible) before child
-Bilateral Piezogenic Papules
-Musculoskeletal Pain 2+ limbs daily >3 months
-Chronic widespread pain >3 months
-Joint instability/absence of trauma

-(+) DNA test for vEDS from one report.
-My mother's pregnancy with me was high risk. She didn't know she was pregnant until 5 months and had me Emergency Delivery 6 1/2 weeks early at Arnold Palmer. I had birth defects.
-My pregnancy with my son was high-risk, I bled the entire pregnancy, on bed rest, and started dilating at 7 months, water never broke but the placenta tore up top and I was bleeding from it for several hours into labor until they finally broke my water for me. I did not feel the 3 epidurals they gave me. Pharmacological Genetic tests show little to no effect from pain medicines.
I am being evaluated for POTS in Jan as well.

Other Symptoms:

-Chronic crepitus/arthritis-like pain – hands, wrists, elbows, C-T-L-Spine, Hips, Knees, Ankles, Toes >21 years
-Degenerative Disc Disease dx at 15
-Heavy/weak/wobby legs (think magnetic/jello) >15 years on and off
-Chronic Migraines >3 weeks of the month >17 years
-More pain and symptoms around time of menstrual (also wacky clotting bleeding cycles for > 7 years)
-High pulse, Variation between 60-100ms daily, High BP (unpredictable), difficulty regulating body temp >15 years
-Chronic Kidney infections and stones >15 years
-Chronic constipation >22 years
-Muscles ache/feel like burning, inflamed inside out >7 years
-Bowel Swelling/immotility >22 years
-Difficulty passing urine/bm sometimes due to pain/swelling internally >15 years
-Night Sweats > 7 years
-Recurrent infections > 7 years (I.e. Lyme disease, Parvo B19, Strep back to back 4 times in a row, chronic "equivocal" BV, Cervical dysplasia 2x 2004 and 2014)
-Daily stomach pain and nausea upon waking >9 years
-Brain fog
-Occasional Neurological Symptoms – Numbness in extremities, Numbness in half of the face/teeth, Numbness in the neck, auras with and without migraines, chronic tinnitus.

I am not sure if I am forgetting anything but this should be pretty good. I need to print this out for my doctors lol

REPLY
@colleenyoung

Hi @healthhopefreedom,
Let me connect you with other members who have experience with Ehlers-Danlos Syndrome (EDS) and/or Hypermobile Spectrum Disorder (HSD) like @lovemyfamily2003 @katemschultz @lisafl @jthigpen @kariulrich @blossom2016, who have shared their experiences in these discussions:

– Ehlers Danlos Syndrome – Who is the best doctor to see? https://connect.mayoclinic.org/discussion/ehlers-danlos-syndrome-new-diagnosis-1/
– Chronic Erythema Nodosum & Ehlers-Danlos Syndrome (EDS) https://connect.mayoclinic.org/discussion/chronic-erythema-nodosum/
– Possible Ehlers-Danlos Syndrome with craniocervical instability https://connect.mayoclinic.org/discussion/possible-ehlers-danlos-syndrome-with-craniocervical-instability/

@healthhopefreedom, it sounds like you're at the beginning of confirming a diagnosis, but certainly not new to experiencing a wide range of symptoms. How long has this been going on? How are you doing today?

Jump to this post

Hi @colleenyoung, I appreciate you connecting me with members. I wanted to mention so that we don't get any confused connections on here that HSD was meant to be Hypermobile Spectrum Disorder, but if anyone with Hallervorden-Spatz disease can benefit or contribute to these posts, please do!

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