Face #9: Alexandra

Alexandra, where do you live?

The Netherlands

What’s your diagnosis?

Classical Ehlers-Danlos Syndrome (cEDS) and Myopathic Ehlers-Danlos Syndrome (mEDS). I have Col5a1 and Col12a1 gene mutations. It turns out I have both parents with different types of EDS. My mum has cEDS and my father mEDS.

How old were you when you started showing symptoms?

When I was born, but no one connected them to EDS back then.

And how old were you when you got an official diagnosis?

34 years old.

Are you able to work? If so, what do you do?

Yes but only maximal 10 hrs a week. I’m a Filmmaker/photographer and patient expert about EDS.

Have you had to give up on any career dreams?

Yes, in a way. I had to close my own company as a freelancer to get help from the government because my health went downhill very quickly. Now I work for a company.

How many health professionals are on your team?

I have 10

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

My house-doctor, my neurologist, physiotherapist and my rehabilitation doctor.

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

Hip instability, myopathy and muscle dystrophy (wasting of muscle) which are typical of mEDS, and daily subluxations of my shoulders, hands and ankles, typical of my cEDS. I also experience hypersomnia and epilepsy which are neurological symptoms also related to EDS. I lost the colour view of my left side of my eye and experience neuro-developmental differences.

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

It was one of the neurologists who had seen me for my muscle wasting and losing the possibility to walk. When I told him I am also hypermobile, he said it could not affect you like that, and he thought I had Huntington’s disease, and when they tested me for it, I came out negative. Then he said it’s functional, then said it was psychological.

Also, one of my ex-physiotherapists told me hypermobility could not disable you. He said, ‘You need just to train more than the others because you’re more flexible, but hypermobility cannot give you pain or stop you from walking’. When I told him I have EDS, he didn’t even know about it.

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

If you’re born super bendy, it might seem fun to ‘wow’ people with crazy party tricks, and weird contortion acts. However, being hypermobile has a lot other side effects. We can injure very badly or easily; or we can have chronic pain which can be debilitating and stop us participating in our daily routines. A lot of people with generalized hypermobility don’t even notice until they’re adults and they start to have joint pain. Depending on the type of genetic mutation, people can have fatal and disabling symptoms like aortic rupture or cataracts.

POTS is an autonomic disorder also seen in hypermobile patients and and it affects pulse and blood pressure, so patients often feel light-headed and fatigued. These definitely aren’t the only disorders to be associated with hypermobility, but they’re a few of the most common ones. When larger joints like the shoulder socket or hips and knees move around a lot, it can become super uncomfortable to do normal things like walking and carrying objects.

It’s common to have tears, sprains, dislocations, and overuse injuries from severe hypermobility. A lot of people with hypermobility have joints which dislocate easaily and they have to pop them back in place. If the joint is super loose and dislocations happen regularly, it might not hurt as much, but it can also be just as painful as a dislocation is for anyone without hypermobility. A hypermobile person’s shoulder joint can dislocate from just reaching your arms behind your back to fasten a bra. Some people need surgeries to alter the bone and create joint stability, especially after injuries like hip dysplasia (a painful misalignment of the hip joint) or knee dislocation.

Many hypermobile patients suffer from anxiety and depression because they go through years of pain and hundreds of doctors with no answer. Also, many have trouble coping with the fact that it’s a chronic illness with no cure. The experts on hypermobility conditions explain it’s an easily overlooked and misunderstood condition because there’s still a lot of research to be done and hypermobility occurs on such a wide spectrum, varying greatly by the individual.

Why is getting the message out about hypermobility so crucial?

There is still so much misinformation out there. We need to raise awareness, educate people and promote acceptance of hypermobility conditions both in the individual and the wider community.

Not all people with EDS have visible disabilities. We don’t all use wheelchairs or crutches. Some can walk without aids, so people need to learn not to judge without taking a look at our daily life and what we go through.

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

Thanks to my strong personality and positivity I see life as it is and I try to enjoy my life how and when I can, and find beauty in the small things.

When I was a child, I thought it was so amazing to be so bendy, like the circus people and I imagined myself a kind of superhero. Regardless of my health issues, I fought to make all my wishes and dreams became real.

As an adult, I don’t see being bendy as a good thing, but it’s not “bad” either. It would help if we have access to good management and we could find the right doctors who know what hypermobility & EDS is; then it would not be so hard as for most of us now it is.

Any other burning thoughts you want to add?

We need to show to the world that different doesn’t mean wrong. We simply need a different way to approach our life and take an alternative approach to management of our health to be able to function and follows our dreams. We have EDS/HSD, but we are not EDS/HSD; we are worthy to be in this world, and we deserve to succeed and be as happy as anyone else.