It’s May. That means ‘almost winter’ here in Australia. It means Mother’s Day is next week. It also means Ehlers-Danlos Syndrome awareness month, and this year I’m going to do something a little bit different.
Most year’s I share the images of ‘EDS facts!’ that float around facebook. Easy to digest snippets of what having a connective tissue disorder can do to your body and your life. They’re useful, I’ll still be sharing them, but this year I want to do more.
Facts about Ehlers-Danlos Syndrome always seem so clinical. So distant. They’re a list of signs and symptoms, lifted from Google and the collective knowledge of so many EDS patients.
But where is the humanity? That is what I’m hoping to find and convey this month.
Every day during May I’ll be sharing a little bit of how Ehlers-Danlos Syndrome has affected my life. Not all doom and gloom, but I’m not glossing over important issues either. I’m more than EDS, but it’s certainly a large part of the person I’ve grown into. I’d like you to get to know how I’ve become the Rori you know (and hopefully like, at least a little). If I’m doing it right, you’ll get to understand both my personal journey, and walk away with a bunch of new information about an underdiagnosed and misunderstood illness.
So, without further ado…
May 1 :: Ehlers-Danlos Syndrome in Children
The three major types of Ehlers-Danlos Syndrome are Classical (1 in 20,000-50,000), Hypermobility (1 in 10,000-15,000), and Vascular (1 in 50,000-200,000). The other three types (Arthrochalasia, Kyphoscoliosis, and Dermatosparaxis) have less than 100 cases reported between them.
Overall, EDS affects about 1 in 2,500 to 5,000 people. Each of the major types are heterozygous dominant – a 50/50 chance of one affected parent passing it to their child, regardless of the sex of the offspring. Each of my three children wound up with the unlucky 50%, so they’re all affected.
About a third of all new Classical type diagnoses are de novo (or ‘spontaneous’/’first’) mutations. I’m one of those. My diagnosis came as a surprise because I’m the eldest of seven children. My mother is one of nine, my father is one of six. If a dominant gene was present somewhere else in my family tree, it would be blindingly obvious.
Growing up as an undiagnosed EDS kid was difficult. I would bruise easily, passed off as clumsiness or an accident in one of the many sports I participated in. Of sports, there were plenty. I was a highly competitive child, with five brothers. Anything they did, I did too (and better, damnit!). Roller hockey, Scouts, ballroom dancing, karate, more dancing, rugby league, netball. You name it, I gave it a try. I was frequently the Girls’ Age Champion of my primary school. I was a pretty healthy kid, occasional bruising and sprains aside. I did have pretty severe ‘growing pains’ (totally weren’t growing pains), but that was about all.
When puberty hit, everything changed. EDSers are advised away from contact sports as they wear badly on hypermobile joints. I didn’t notice any of the effects of my physical activity while I was a child, but it caught up with me rapidly during the onset of puberty, and then later during pregnancy.
Ehlers-Danlos Syndrome is diagnosed far more frequently in females than in males. This isn’t because it’s present more often in females, but rather because of the way it presents (and how often women access preventative healthcare).
Higher levels of estrogen can make joints more lax, increasing pain around specific points in a woman’s menstruation cycle. The surge of hormones on puberty does much the same thing to an adolescent EDSer. In males, it tends to help with formation of muscle density which provides more support for hypermobile joints. In females, it creates further laxity. A similar problem is seen in pregnancy as the body prepares for childbirth. A hormone (aptly named ‘Relaxin’) helps to relax ligaments – great for childbirth, not so great if the rest of your body is a puddle of loose joints already.
In the years between the onset of puberty, and pre-pregnancy, I was nursing some kind of ‘sprained joint’ constantly. It was put down to clumsiness, and later hypochondria. Looking back, I was subluxing (partially dislocating) joints and putting them back in myself on instinct. Joint dislocations feel almost like a painful itch. You know something feels wrong, and you instinctively try to put it back where it belongs until it feels ‘right’ again.
I was eventually diagnosed at 21, during the pregnancy of my second child. More on my diagnosis itself another day.
As far as EDS kids go, my childhood was pretty easy. As much as the contact sports caused later permanent injuries, the muscle I put on probably reduced my dislocations during childhood. After diagnosing an EDS child, doctors generally advise to stick to swimming and other low impact exercise to build up muscle. Muscle is incredibly important, but there’s little point stacking it on if you’re doing yourself long-term damage.
Other children with EDS are more affected than I was. Though they’ll vary by type, some of the symptoms in children include:
- Joint dislocations and subluxations (partial dislocations), particularly with minimal or no trauma
- Chronic pain – often mistaken for ‘growing pains’.
- Abnormally long healing time. Some scars may stretch and widen. In those with Classical type, scars appear to be paper-thin (‘cigarette paper scars’) and may rupture with minimal trauma.
- Easy bruising and nosebleeds. In those with Classical type, skin is stretchy, ‘velvety’, and may tear easily.
- Jaw pain and dislocation. TMJ (temporomandibular joint) disorders are common.
- Dental issues, like dental crowding, high palate, poor enamel, receding gums, multiple cavities, bleeding gums (‘pink toothbrush’), and periodontal disease.
- Comorbid illnesses like dysautomnic conditions such as Postural Orthostatic Tachycardia Syndrome (heart rate increase on standing which leads to dizziness and fainting), and gastrointestinal problems such as Irritable Bowel Syndrome, Acid Reflux (or GERD), and Gastroparesis (slow stomach emptying).
If your child shows any of the following symptoms, they should be evaluated for Vascular type Ehlers-Danlos Syndrome as a priority. Unlike the other types of EDS, Vascular can be fatal.
- Typical facial appearance of large eyes, thin prominent nose, thin lips, hollow-appearing cheeks.
- Very loose small joints (fingers, toes), but large joints (knees, shoulders, elbows, hips) are generally unaffected.
- See-through (‘roadmap’) translucent skin. Blood vessels are easily seen through the skin in not typical areas.
- Easy bruising. Can leave brown iron deposit marks.
- High risk of major blood vessel and hollow organ rupture (uterus, intestines, etc). Screening for aortic root dilation is a priority and precautions during medical procedures need to be taken.
If you suspect your child may have inherited or spontaneously mutated Ehlers-Danlos Syndrome, ask your local/family doctor for a referral to a geneticist. While some rheumatologists can diagnose, the most accurate typing will come from a geneticist. When diagnosing children, there is a normal degree of childhood hypermobility which makes diagnosis difficult. As a result, most geneticists will not diagnose until age five. Until then, usual hypermobility precautions should be taken, and early physiotherapy intervention is considered a good idea.
For more information on Ehlers-Danlos Syndrome in children, click through to EDS UK.
So that’s my Day 1 snippet. The other days will be an awful lot shorter (if for no other reason than a Sydney trip this week!).
I’ll leave you with the Day 1 EDS Fact.