Face #12: Kylie

Kylie, what’s your diagnosis?

Classical Ehlers-Danlos Syndrome

How old were you when you got your official diagnosis?

I was 24 when I finally got in to see a geneticist who gave me an official diagnosis.

Did you have a career that got cut short? What was it?

I had a career I loved and relished as a Veterinary Nurse for six years before my health deteriorated to a point where I could no longer work. It completely devastated me at the time, but I have come to terms with it.

Do you have a family of your own?

No, we do not have children. I have had multiple miscarriages, and the specialists I have seen have now said it is just too dangerous for me to try to pursue having a family, partially due to my Ehlers-Danlos Syndrome. I was diagnosed after 4 of my 5 miscarriages.

How many health professionals are on your team?

Currently 6.

Which of those health professionals is your “go-to” person when you have questions, or things are going pear-shaped?

None of them except my Geneticist are all that useful when it comes to questions, as they all only specialise in their different fields, so really only know about the effects of Ehlers-Danlos Syndrome in that particular context. In saying that, my Geneticist has also moved to a different field of genetics and while he is happy for me to email him, I tend to find more answers and solutions in the various online forums for patients.

What’s the most problematic symptom of your hypermobility condition?

Pain. Definitely pain.

Pain from dislocations and subluxations; pain from microtears of ligaments and tendons; pain from overuse of joints; pain from my muscles doing a lot of the work of my ligaments and tendons to keep my joints somewhat stable; pain from trying to do every day activities; pain from overdoing when trying to do every day activities…just pain.

Have you had bad experiences with ignorant health professionals? Can you tell us about one of those experiences?

On my long path to diagnosis, when I was about 15 or 16, my GP sent me to a Rheumatologist to investigate my constant injuries, my joint pain and explore the possibility of me having Ehlers-Danlos Syndrome. That Rheumatologist told me I was simply lazy, overweight, unfit, and that Ehlers-Danlos Syndrome doesn’t cause pain anyway.

What’s the one thing you want the world to know about hypermobility?

I want the world to know that in many cases, hypermobility isn’t ‘just’ a case of being bendy. It often comes with a diagnosis of a condition that causes great pain and fatigue, and often secondary medical conditions due to faulty collagen that begins to weaken as we age.

Why is getting the message out about hypermobility so crucial?

Hypermobility conditions are largely invisible, so the general public/community sees us as being fine, totally ‘normal’, and I want them to realise that you cannot judge a broken book by its neat and tidy cover.

Also, there are so many people with hypermobility who likely actually have a connective tissue disorder and don’t realise it, simply due to lack of awareness of them in the medical and wider communities, and they need to know…for themselves…for their families.

Are there/have there been any plus sides/benefits to having your hypermobility condition?

It has given me greater empathy for other people’s struggles in life and made me a more supportive person.

Apart from that, I look young for my age, and I am often complimented on my amazing porcelain white skin.

Any other burning thoughts you want to add?

Despite struggling every day of my life, I want to say that on the whole, I am largely at peace with my situation, because it has given me a new outlook on life, and allows me to support and advise others who perhaps aren’t at that point in their path yet. I find joy in volunteering, my crafts, my family, friends and my cats.