Rare Diseases: A double-zebra

In preparation for Rare Diseases Day, 2019, I was able to interview Tianne, 24, who lives with both Ehlers-Danlos Syndrome and Marfan Syndrome (yes, it’s possible to have two connective tissue disorders, although this makes Tianne doubly rare! A double-zebra!).

Age at diagnosis

I received a diagnosis of 'hypermobility syndrome' around two weeks of age, but it wasn’t properly investigated until I turned 18 where I was re-diagnosed with ‘benign joint hypermobility syndrome’ and then just before I turned 19 I was re-diagnosed again with both Ehlers-Danlos Syndrome and Marfan Syndrome.

Journey to diagnosis

It was a battle to get my GP to refer me to orthopaedics as my ankles and hip were the main concern; I was continually fobbed off with just "growing pains". When I finally got sent to an orthopaedic specialist he had no idea what he was dealing with. Strangely, he asked me if I had learning difficulties which I thought was bizarre, as an ability to read or write doesn’t seem like it could cause dislocations! I challenged the doctor on this, and he then referred me to an ankle surgeon for a third opinion.

From there I was sent to a physiotherapist who then sent me to another physiotherapist, who then sent me to a geneticist and rheumatologist and I finally received a diagnosis. The initial wait from seeing my GP until the day of my diagnosis was 16 months.

Genetic Testing

I was referred for genetic testing when I was first suspected of having a connective tissue disorder, and at the appointment, they asked some simple family history questions like my parents' ages, ethnicities and if they had any symptoms. As I didn’t know a whole lot about either side of my family at that time, I couldn’t answer that question until I did some further investigating. At another appointment, I was able to tell them that one of my great grandmothers had the vascular type of Ehlers-Danlos Syndrome and she managed to live with minimal medical intervention and had more than ten children and died in her late 90s.

I also found out about Marfan Syndrome on my father's side, so once they heard about this, I had to go for quite a few imaging tests and ultrasounds to make sure there wasn’t anything seriously wrong with my joints or organs, mainly my heart, liver and kidneys.

It was all quite daunting at first, as over the years I had normalised joint pain and all the other symptoms I experienced. After becoming so used to living with them, and pushing them to the back of my mind, being sent to all these doctors for so many things was like opening a can of worms.

Challenges

The biggest challenges are the limitations I now have because of my conditions. I’ve had to give up so many things I enjoy to avoid injuring myself such as gymnastics, tennis and fun days out to places like theme parks.

As a result of these losses, I have learned to love the simpler things.

Another challenge is finding something fulfilling to do, as much as I enjoy gaming and watching marathons of The Walking Dead, I want to feel as though I am contributing to society and the Earth. I do plan to resume my studies in September, but until then I’ll have to explore what my contributions to this Earth will be in the meantime.

Benefits?

I haven’t found a particularly special benefit but having extra-long arms means I can reach things slightly easier, if my shoulder joints hold up! And, with really flexible feet if I drop something, I can sometimes pick things up with my foot and pass it to my hand without having to bend over. (But if my hip or knees aren’t doing too well on that day then whatever I’ve dropped will have to stay on the floor until I can get help to reach it).

Advice for others

Do not allow yourself to be fobbed off by being told it’s in your head. Nobody but you knows what you are physically feeling so you cannot let another person make a judgement for a body that isn’t theirs, regardless of how many medical qualifications they have.

Secondly, never be afraid to say how YOU feel, if it means you have to irritate your doctor by visiting them twice a week for six months straight with the same issue, then do it. Perseverance and persistence will get you diagnosed and eventually your doctor will be so fed up they’ll refer you on so they don’t have to deal with repeating themselves at each appointment.

Lastly, I would tell you to research as much as possible, branch out onto social networks, find groups and hashtags for people/organisations like you, ask questions to those people as they can be the ones to give you the right directions in seeking your diagnosis, management or treatment.

Doctors don’t always know everything and sometimes if you present your symptoms and the relevant research to them and ask them to screen you for whatever it is you think you may have, maybe 3 out of 10 doctors will drop their pride of going to med school to help you.

If a doctor doesn’t listen to you after putting your case to them, complain about it and request a second opinion (which you are entitled to). Once they realise you aren’t going away, they will usually begin to take you seriously and figure out the cause of your symptoms.

What you wish you’d been told

I really would’ve appreciated being given an in-depth explanation as to what everything meant; the big, unfamiliar words on my medical notes, the different diagnoses I was seeing and being told about; the names of online communities filled with people like myself, as the first few months post diagnosis was very daunting and lonely. There wasn’t anybody to answer my questions, and I couldn’t even turn to my GP as they had no clue about my conditions, so it was really down to me searching social platforms for hashtags and then asking strangers from there.

I think if all people diagnosed with a chronic or rare illness were told about communities with people like themselves it would make it easier to come to terms with the diagnosis, as they would realise they aren’t on their own or blindly following a path to learning more about their condition.

Grief

I don’t think I would call it grief about the diagnosis, as I wasn’t grieving for a previous life I no longer had. My symptoms were always 'normal' for me, so I don’t think my life changed much at the point of diagnosis. It was more that I finally had a name for what I was experiencing which provided some closure, but on the other hand, I had nobody to discuss it with so it became very isolating.

There did come a time where I had experienced a sense of grief as I had to give up many of the things I once enjoyed, like tennis, swimming, volleyball and gymnastics; simpler things like being able to reach up and grab something; bending over to put my shoes and socks on.

It’s quite frustrating having a condition that keeps you alive but robs you of all the things you could once do because even though you are living and breathing and appear normal outwardly, nobody understands what you are going through. They can’t see the person you once were before things snowballed out of control.

I am glad to be alive, and I am grateful for my life, but sometimes I think “what is the point of being alive if you can’t live and you are just existing?” That’s when I remind myself that there is more to life than my physical ability, just because I have lost the ability to do some things, doesn't mean I have lost the ability to everything.

I have found enjoyment through nail art, and other forms of self-care like setting a goal to regrow my hair out after medication and loss of ability in my hands wrecked it. I had to cut it all off and start over, and I've now seen it as a good thing as I can care for myself while finding enjoyment in doing so. It also helps me to pass the time, and I can tell myself, “I’ve done this today, and for me, that’s good enough”.

Importance of Awareness Raising

Raising awareness is very important to me as it helps people around you understand your limitations. It also helps them to realise that not every illness is immediately visible. I think it’s important to raise awareness of the fact that just because people look fine, it doesn’t mean they don’t need or are not entitled to help.

I have heard of friends coming to their cars and finding abusive notes on their windshields with threats of being reported for benefit fraud because they have a disabled parking badge but don’t look disabled. This needs to stop. People need to realise that not every disability looks like someone using a mobility aid and not all chronic or rare diseases look like an extreme form of disfigurement.

Once there is awareness of these conditions, people will be able to go out into the community without fear of judgement from the public. We don’t want pity or sympathy, but we do want empathy. We need people to understand that we don’t have it as easy as they do (physically) and that looking “normal” does not equal being “normal”; that a little understanding goes a very long way and creates a kinder, more positive world for everyone regardless of their disability or level of impairment.

I can only imagine that when the day comes that awareness is equal for all, so many people will receive the treatment they deserve, they will be able to go out without fear of abuse or mocking. Once those stigmas end and awareness prevails, life, in general, will become so much easier for and accepting towards people with disability. People will be able to live fulfilling lives; they will be accepted into society and treated with dignity and respect.

That is why awareness is important to me.

Are you a double-zebra too? Let us know in the comments below the combination of connective tissue disorders you've been diagnosed with!