Dr. Google

I just had lunch with my Mom (yay!) and she declared that she think she knows what I’ve got. Or more so, what WE’VE got, as she and I have very similar physical symptoms and issues.

Ehlers-Danlos Syndrome, she says.

And so I looked it up.

Very interesting!

Wikipedia says, in short : Ehlers–Danlos syndrome (EDS) (also known as Cutis hyperelastica[1]) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (Type I or III). The collagen, often referred to as “glue”, in connective tissue helps tissues to resist deformation. Collagen plays a very significant role in the skin, joints, muscles, ligaments, blood vessels and visceral organs; abnormal collagen leads to increased elasticity within these structures.

 

The symptoms -I’ve highlighted the ones that apply.

Musculoskeletal:

Wow, OK, we both actually have ALL of these ones.

Skin:

  • Stretchy skin with a velvety texture
  • Fragile skin that tears easily
  • Easy bruising, which can be severe
  • Abnormal wound healing and scar formation, leading to widened atrophic scars
  • Redundant skin folds[13]
  • Molluscoid pseudotumors[14], especially on pressure points
  • Subcutaneous spheroids[15]
  • Fatty growths on forearms or shins
  • Angioplasia

Cardiovascular:

  • Fragile blood vessels with tendency towards aneurysm (I *think* Mom has this issue, but she would know better than me)
  • Unpredictable rupture of arteries
  • Valvular heart disease (such as mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve prolapse)[16]
  • Orthostatic intolerance, likely due to an excessive distension of veins that causes blood to pool in the lower limbs in response to an upright posture
  • Dilation and/or rupture of ascending aorta[17]
  • Cystic medial necrosis
  • Varicose veins
  • Vascular skin conditions: Raynaud’s phenomenon, Livedo reticularis

Other Complications:

  • High and narrow palate, resulting in dental crowding
  • Early-onset periodontitis
  • Nearsightedness, which may be extreme
  • Blue sclera
  • Retinal detachment
  • Flat feet
  • Digestive disorders: (gastritis, gastroesophageal reflux disease, irritable bowel syndrome, diverticulitis, gastroparesis (partial paralysis of the stomach))
  • Hiatial hernia[18]
  • Anal prolapse[19]
  • Dysautonomia
  • Vulnerability to chest and sinus infections
  • Collapsed lung (pneumothorax)[20]
  • Intestinal/uterine fragility or spontaneous rupture
  • Nerve compression disorders (carpal tunnel syndrome, acroparesthesia, neuropathy)[21]
  • Insensitivity to local anesthetics.[22]
  • Arnold-Chiari malformation (brain disorder)[23]
  • Cranial instability
  • Migraines
  • Problems with proprioception including dysmetria
  • Talipes equinovarus (club foot), especially in the Vascular type
  • Platelet aggregation failure (platelets do not clump together properly)
  • Bleeding diathesis
  • Petechiae
  • Cerebrospinal fluid leak (rent in the meningeal tissues: dura, arachnoid)
  • Temporomandibular joint syndrome
  • Surgical complications and intraoperative problems due to tissue fragility
  • Pregnancy complications: increased pain, mild to moderate peripartum bleeding, cervical insufficienty, uterine tearing, or premature rupture of membranes. (my mom, not me, obviously)

So… a good chunk of them.

Now, there are 6 different types of EDS.
I believe we’d be most likely to have Type #3, which is called Hypermobility.
Essentially it is characterized predominately by the symptoms listed above under Musculoskeletal.
Which, happens to be the one that we seem to have each and every one of.

Interesting!

What does it all mean?

Well, for one, I am not regarding Dr. Google as a medical professional. But I do see some very major evidence in the descriptions of this syndrome that coincide with things I have always dealt with from birth.  It would easily explain a lot about the problems/pain/looseness of my hips and knees and the earliness of my osteoarthritis diagnosis. It also seems more likely for me to have genetically inherited this one major condition from my Mom, than what we previous thought which was that I somehow inherited A LOT of small conditions from her.

Is it treatable?

Not really. Like many syndromes, some symptoms can be treated separately, but never cured. For me, I think I am currently doing all I can do which is taking anti-inflammatories and painkillers for the arthritis and joint pain.  Even getting diagnosed is more along the lines of going through the checklist of symptoms and assuming, rather than real medical tests.

Do I care/Am I worried?

Uh, no and no. I think it’s super interesting. And, like my mom, I think its cool to know these things. It’s so interesting to me to look at a list like this and think about the stories my Mom told me about her pregnancies and labors, and about me and my development (or problems with said development) when I was a baby and see it all line up together perfectly.
Really I can only say – THANKS A LOT, MOM!
(note  : I am in no way saying that Ehlers-Danlos is not a serious condition. After googling a lot, I saw so many people have severe and debilitating degrees of this condition. I even found a very sad and touching website dedicated to people who have died from complications of EDS.
I—if I do have it—am lucky to have what they call the least severe type, and I have lived my whole life with the ailments and daily pain I have today. I am used to it, and I have learned to deal with it.
Therefore this “diagnosis” is not life changing or threatening to me. If you have, or know someone who has a severe problem with EDS, trust me when I say – I am not making light of it)

 Edited to add a link to this video.  This is a woman speaking about her life with EDS. I wanted to add it because she is pretty amazing. And she really promotes awareness in order to diagnose children early on.

 

 

 

5 Responses to “Dr. Google”

  1. Melissa

    Well, hmmmph.

    I don’t actually know what to say to this post, but I wanted you to know I read it! :)

    Reply
    • SweatyGirl

      Thank you, though!
      It’s a bit weird to write a post like that and get nothing but crickets in response. Not that I’d expect a specific response, but you know… just that someone read it – its all I need! :-)

      Reply
  2. mom

    I heard back from Dr V. today..
    She’s sending me to a geneticist.. Just maybe we can start to get some real answers!!
    YAY for answers!

    and… ummmm sorry for the crappy genes ;-p
    mom

    Reply
    • mom

      amen to that Beth … I’ve been looking for answers for over forty years……….frustrating

      Reply

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