EDSer fights for patient advocacy in Australia

Rhiannen shares her story about Ehlers-Danlos Syndrome diagnosis and her journey to evaluate her Marfan-like physical characteristics. She started a new organisation “Rare Voices Australia” and acts as a patient advocate for Australians with rare diseases and disorders.

by marfmom  |  

rhiannan_2“I’m on vacation at the beach(!), so while I’m lazing about my days getting a tan, a couple of readers have submitted guest posts. Today’s is written by Rhiannen, about her journey to find an accurate diagnosis. She blogs at Rhiannen’s Rainbow. Thanks, Rhiannen!

Hi There!

My name is Rhiannen and I am 25 years old from Australia.

I was diagnosed with Ehlers-Danlos syndrome (Hypermobile/formerly Type 3) in 2011 at 23 years old, after a life time of mysterious illness, dislocations, peculiar body shape and an apparent immunity to local anaesthetics.

The EDS diagnosis answered a lot of questions but left some unanswered. I have a very unique stature that results in frequently being asked if I have Marfan syndrome.

I’m not, but I come very close. I have the long fingers and wide arm span but not quite enough to meet the strict Marfan diagnostic criteria. I’m almost an Aussie Marf?

Along with those with Marfan characteristics I also have  very small hands and feet (think kids shoes and mittens) as well as tiny ears. I am underweight regardless of how much I eat and I am hearing impaired.

The biggest surprise came at the Cardiologist office when a routine scan to monitor my heart revealed an aortic aneurism or as my cardiologist put it – “How interesting, you have a Marfan heart!”.

It became clear that I don’t just have EDS and that I have a cross over with another connective tissue disorder of some description. Genetic testing for Loeys-Dietz syndrome came back negative so that was ruled out.

At the moment, attention has been turned to stabilising my fragile body. Going 23 years without a diagnosis resulted in a lot of damage being done.

I have arthritis in almost every joint and my long skinny legs are severely bowed at the knees that has in turn damaged my hips and ankles. I can dislocate a joint at the simpliest incorrect movement. I start each morning by checking that all my joints are back in place before getting out of bed.

Every body system and function is under the close monitoring of an “ologist”. My lungs are particularly weak and prone to infection. My blood pressure can drop without warning. I bruise easily and my skin is so very fragile.

My life revolves around medical appointments.

Living in Australia with such a rare condition is hard because there few doctors who are familiar with connective tissue disorders in general, let alone with someone as complex as myself.

I have just had the MRI for chiari malformation but will need to travel to Sydney to see the neurosurgeon. Next week I am flying to Melbourne for the day, just to see an orthopeadic surgeon to seek advice on what to do with my deteriorating knees. On Friday I meet with the oral surgeon to discuss an infected tooth.

I am at uni/college studying towards being a special education teacher and I am also the state director of an Australian academic problem solving competition. This year I also began with a new organisation “Rare Voices Australia” and act as a patient advocate as we fight for a better future for all Australians with rare diseases and disorders.

Did you know that Australia does not of a Rare Disease Policy like the US and Europe? It is appalling! Several times a year, I speak at universities to educate lecturers on how to teach and work with students with complex medical issues like those I face.

Later this year I will undergo the genetic testing for Marfan syndrome as well as vascular EDS to determine once and for all whether I am part Marfan or if I have invented a new connective tissue disorder of my own.

I’m not going to lie. Life with a connective tissue disorder is hard. It has taken away dreams and regularly ruins plans. Having said that, it has also taught me about the important things in life as well as teaching me just how tough I am. I love sharing my story, inspiring and educating others.”

The coexistence of EDS and Marfans are not as improbable as once thought.  Both are not “rare”….  just “rarely diagnosed  properly“!

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