I posted once about hypermobility syndrome after I first met with my current rheumatologist back in 2013, but I never followed up on it. Now I’ve been living with the diagnosis and integrating it into my view of myself for almost three years, and because a couple of my friends have the same condition I feel like everybody knows what this is and what it does. Tonight I was reminded that this is not the case, that as much as it feels like normal and common sense to me and my kids because we live with it, others still need to have it explained. So here’s a fresh explanation, with some new insights.
I’ll say up front that my official diagnosis from the rheumatologist is systemic Joint Hypermobility Syndrome (JHS) with spinal bifida occulta and arthritis in my spine, hips, knees, and feet. Her policy is not to use an Ehlers-Danlos Syndrome (EDS) diagnostic code unless she has a positive genetic test, which she generally doesn’t order because it’s expensive and doesn’t serve much purpose unless you have a dangerous subtype, and may just be a false negative if you have a mutation that has not yet been identified. However, the clinical differences between JHS and EDS type 3 are minimal, and many doctors in the field believe there is no real difference.
My children do not have an “official” diagnosis at all. My own rheumatologist cannot see my children because they are children, for liability reasons. The nearest place we could go that would be familiar with this syndrome, especially in children, is in Ohio, and it just hasn’t been worth it to make such a huge effort and expense for a piece of paper. There is no treatment for EDS, no cure, only awareness, the ability to better care for our bodies so they don’t wear out so fast, something to tell doctors and nurses before the anesthesia fails and the veins blow out and the belly incisions bust open. After identifying so many of the same symptoms in my children, and especially after seeing them struggle with dislocated/subluxated joints and finding out at least one of them also has spina bifida occulta, I am feeling more strongly than before that seeking out at least the genetic testing might be worthwhile, both for genetic counseling for my children and giving them a better ability to anticipate how their bodies will react to things in the future.
All that being said, part of the point of this post was to provide an explanation for how EDS affects our bodies. It is not limited to the joints, and it is not limited to extreme crazy contortionist tricks. Here is a list of ways in which EDS affects my body (not necessary exhaustive, because there are so many that sometimes I forget some), and most of these symptoms I have now seen also in one or more of my children:
- spina bifida occulta
- frequent joint sprains and unexplained sore joints
- random or easily produced joint dislocations and subluxations, including toes, feet, ankles, hips, shoulders, and jaws (I can dislocate my toes by getting out of the van wrong, my ankles by stretching, my shoulder by picking up a heavy bag, my jaw by yawning)
- anesthesia that is ineffective or resolves (wears off) too quickly, because it leaks away from where it was placed
- I love to eat salty foods, much saltier than most people like them, which is one way my body tries to keep my blood pressure from dropping too low.
- orthostatic hypotension, or I almost pass out when I stand up because my blood pressure can’t adjust fast enough
- I can crack my ankles just like I can crack my knuckles
- a heartbeat that fluctuates with my breathing, with frequent episodes of palpitations and a history of unexplained murmurs
- stretch marks on top of stretch marks, from just existing, from growing boobs, from growing into a woman, from having kids again and again and again…not one or two, but entire body parts completely covered in them
- keratosis pilari, that bumpy skin on the back of my arms
- severe nearsightedness
- poor wound healing, with dehiscence in incisions when they should already be closed
- incompetent cervix in pregnancy
- being able to easily squat, being more comfortable sitting on the floor than in a chair
- tendon and nerve issues like plantar fasciitis and carpal tunnel syndrome starting in my teens
- severe recurring idiopathic headaches
- pelvic organ prolapse
- creaks and bumps when my joints move starting in my teens
- poor circulation in my feet
- Reynaud’s syndrome causing blood loss and pain in my hands and feet in the cold
- constant back pain and tight muscles around my lower back
- idiopathic blood issues, including thrombocytopenia (low platelets), petechiae (pinpoint spots of bleeding, especially after pressure on my skin like carrying a heavy bag), borderline anemia, easy bruising, and a tendency to bleed out in surgery
- flat, pronating feet
- early-onset of tissue paper skin
- idiopathic mouth sores
- reflux and irritable bowel syndrome
- extreme sensitivity to stomach irritation from nSAIDs like Advil (which is why I make my own)
- hard-to-place and blown IVs
- permanent hair dye washes out in weeks
- symptoms of Mast Cell Activation Disease (MCAD), especially dermatographia and other strange allergy-like reactions
- stretchy skin with a velvety texture, especially in areas that are under constant stress or friction
- severe, almost debilitating menorrhagia
- translucent skin, so you can see all the veins
As you can see, this runs the gamut from weird but no big deal to things that can ruin your life (anesthesia failing during surgery can do that). Sometimes paying attention to the little things, like that shoulder that keeps popping out during cheer practice, and taking better care can prevent total disability at a relatively young age. Hopefully my kids can keep it going longer than I did.