Rare Diseases: What type of Zebra am I?
An Interview with Alexandra M.K. who is still wondering, “what type of zebra am I?”
Your age: 36
What’s your diagnosis?
Ehlers-Danlos Syndrome and the geneticist is still looking to understand which type is the dominant one in me. They have found multiple mutations because both of my parents have different types of EDS in their genes.
How old were you when you were diagnosed?
I was 33, so just 3 years ago!
What hoops did you have to jump through to get a diagnosis?
My family and I knew since I was born that I was different to other kids, but no one could tell us precisely what condition I had. I have multiple co-morbidities, a lot of which I’ve had since I was born, but no one could connect them and see that I have a form of EDS until three years ago.
Did you have genetic testing? What was that like for you?
Yes and that’s how they have found my multiple mutations. I have had two lots of genetic testing, one in 2016 and one last August. The testing itself was not such a big deal for me, but I did need to wait almost six months for the results. It was a hard time just waiting and waiting to find out what I have, and knowing there was a chance that nothing will show up. In the end, they did not come back with a definite type; they are still trying to work out what my gene mutations mean. I am still left wondering, “what type of zebra am I?”
What’s one of the biggest challenges of living with your condition?
The difficulty in being understood holistically, and also being believed, primarily because I was still able to walk normally. On the outside I was looking “normal” to most people, so a lot of people didn’t believe my pain and difficulties.
But as my condition has declined it is now noticeable that I have spasticity of my muscles; for short distances I use crutches and for long distances I need to use a wheelchair. I’m unable to stand up for more than 10 minutes because of the condition of my muscles.On the outside I look “normal” to most people, so a lot of people don't believe my pain and difficulties. ~ Alexandra Click To Tweet
With discipline with your management and if you have a great physiotherapist and team who know what EDS is, you can have some good days where you can do your work and enjoy your life. But of course it’s not an easy path and to stay in balance mentally and physically is not always without struggles.
What are your keys to managing your condition?
I see my physiotherapist two times a week; I do hydrotherapy two times a week, once per week MT/ dry needles and every day I practice mindfulness or another kind of meditation. Also, once a fortnight I do Thai Chi. All of this helps me to stay as active and involved in life as possible.
What would you say to someone going through the process of diagnosis for your condition?
The diagnostic period and immediately following is the more difficult stage of life as a ‘zebra’. You need to try to stay positive and fight for the right diagnosis and management. Don’t be scared because with proper management we can still enjoy our lives and do some of the things that we are passionate about. Of course, there will be a lot of changes, and we need to adapt situations and activities in our daily routine; but if we are taking care that our mind stays strong, we can still do much more than what we think we can!
What piece of advice do you wish you’d been given just after your diagnosis?
I was fortunate because when I got my diagnosis, they sent me to one of the excellent rehabilitation centres in Holland where they have a three-month program about living in practice with EDS. There I learned what needed to be part of my management, which exercises and sports I can still participate in and an excellent psychologist taught me how I could best cope with the pain and how I can stay strong. I learned to practice meditation every day, and an OT helped me understand which aids I could use in my daily routine. After my program finished, they found me a physiotherapist and OT near where I lived who know a lot about EDS.
Did you go through a process of grief when you were diagnosed?
In the first moment, I was relieved to finally know what I was dealing with (EDS). But, because I have a rare type of EDS and there is very little information about the rarer types, it was challenging to learn specifics about my condition. In addition, my health was declining and still is, and this was not easy to accept.
Through this uncertain process, I have learned to love me as I am and try to make my life work and enjoy it anyway. Luckily, I was always a positive person who was willing to put up a fight!Through this uncertain process, I have learned to love me as I am and try to make my life work and enjoy it anyway. Luckily, I was always a positive person who was willing to put up a fight! ~ Alexandra Click To Tweet
Learning to be at peace with my condition has been an arduous and painful process, and I didn’t have a lot of support from the people around me; I didn’t have people who I could speak with and feel understood. My family (Mum and Dad) supported me a lot but they live in another country so they could not be there physically fighting with me, but they were and are always ready to call or write to me to help me.
Why is raising awareness of your condition important to you?
For most of us, it’s an invisible disease, and therefore there is so much misunderstanding about these syndromes. We need a different way to approach our life and take an alternative approach to the management of our health to be able to function and follow our dreams. People don’t always understand that.
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.
For this reason, we need to raise more awareness and make our syndromes know. Only then can we get the right support from all areas of our lives. Awareness will make life easier for us, and less stressful, and then we can succeed more, as we deserve!
Michelle is a Senior Occupational Therapist working solely with adults with hypermobility and related conditions. Michelle is the owner of Hypermobility Connect, an online platform for people with hypermobility to connect with resources, health professionals & each other. Michelle practices OT in her private practice and provides education to health professionals relating to hypermobility conditions.