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

Hi Colleen, Thanks for asking... I worked hard last night to get some of the symptoms compiled, and here is my list:

Assorted symptoms of connective tissue disorders (Ehlers-Danlos Syndrome, Marfan Syndrome, Chiari Malformation, Dysautonomia, and Related)

Migraine headaches
Neck and shoulder pain and stiffness
Chronic insomnia
Upper body weakness
Poor fine motor skills
Blurred vision
Fatigue
Difficulty thinking and concentrating
Weak hands - deformed thumb joints
Shortness of breath
Sensitivity to light, seeing floaters
Frequent and urgent urination
Hypertension
Snoring
Wake up choking
Pulsatile tinnitus (head pounds to beat of heart)

Marfan Characteristics

Arm span greater than height
Double jointed
Sydney line
Deep hip sockets

Autonomic and Cardiopulmonary Issues:

Reduced heart rate variability
Exercise intolerance
Sweat too much
Fatigue when standing
Shortness of breath
Cold hands and feet
Labile blood pressure
Hypertension
Fatigue
Shortness of breath
Pulmonary nodules

Neurocognitive Issues

Difficulty findings words
Short term memory loss
Working memory loss
Sensory: hypersensitive to light, sound, motion, touch
Aphasia - very slow to respond to questions due to need for processing time

Childhood Characteristics

Floppy ankles - could not be upright on skates as child
Developmentally slow as a child - socially, intellectually, and physically
Was shunned, excluded, and bullied as a child
Physically weak - I've never done a push up or pull up
Picked last for team sports - poor coordination
Came in last for all runs
Poor fine motor skills - sloppy writing
Inattentive - diagnosed with ADD as an adult
Fell asleep in classes - sleep disorder from early age
Double jointed legs with odd way of sitting
Lost track of time and took a long time to walk home after classes ended

Miscellaneous Connective Tissue Disorder Symptoms

Coat hanger pain in neck and shoulders
Migraine Headaches - flashing lights in peripheral vision, rarely pain
Clumsiness
Hypermobility joints
Abnormal thumb joints
Reynauds Syndrome diagnosed about 2005
Muscle weakness
Swolllen hands
Hair loss - eyebrows, arms, legs
Sacroiliac instability
Cervical spine instability
Peetechiae (broken blood vessels under the skin)
Thin, translucent skin
Thin, wrinkled, stretchy skin on hands
Uterine prolapse
IBS Symptoms that seem unrelated to diet - intermittent
Jaw dislocated numerous times in life, had to be reset by chiropractors
Severe stretch marks during pregnancy
Osteoarthritis
Knee pain
Subluxations of spine
Chiari malformation with fluid buildup diagnosed in 2010 at Noran
Sprained ankle took a year to heal
Neck stiffness
Memory problems
Blurred vision
Excessive sweating

Thank you for that list. I would add slow to heal to the vascular list as following surgery incisions we’re slow to heal and very strange when they did.

Colleen, thank you for your coordination of the site. We have been traveling and I came home wanted to find the list of the common EDS symptoms and can’t find it. It was excellent. Could you re-post that for us? Gratefully

Thanks for letting me know. I'm glad you kept moving forward and found what you needed. I've found a GP in the cities who is an expert in EDS, and am hoping to be scheduled to see her. Take care.

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.

@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

@healthhopefreedom
Man the struggle is real. I understand better than anyone the feelings of hopelessness and pure exhaustion.
So I have a variant of Vascular EDS that no one in the world has yet, so I super alone. LOL
I have valve problems, aortic aneurysm, hyper mobile, joint pain, thin skin, lots of fun issues that just get worse as I age
I also have

May thurner syndrom, Hemiplegic migraines, and so much else.

I am 32 I have been sick well my entire life I have no idea how I walk up tall most days.
I am also a mother to a wonderful eight year old girl, who has some weird medical stuff as you can imagine.
And I am a wife to a disabled veteran with five disabilities. Yep I am glutten for punishment
I manage it all with ONE thing in mind give your self GRACE.

When I first starting getting really piled on I wanted answers, a fix, to solve the problem forever! That drove me crazy. Then after being diagnosed with a stress condition (ironic) I realized you cant control everything, ask for the help you need, and let the rest go.

I just graduated with a Bachelors degree last month and I start a new job in a week. I graduated with 4.0GPA I am so proud. It was so hard and took me FOREVER. But I finished and my new job is work from home and aware of my disabilities. So my advice don't let forget to live your life.

Real advice also my genetic dr is one of the best in the world and she says with connective tissue disorders to limit pain and issues you have to keep your body strength up. which is so hard when it hurts but it works trust me.
Hang in there, and take one day at a time 🙂