In honour of #RareDiseaseDay I’m sharing my story which was published by Pharmafocus Magazine that is associated with Pharmafile as part of their Patient Experience series.
This opportunity became available to me after Jo Balfour from the Cambridge Rare Disease Network (CRDN) got in touch and asked if it would be something I’d be interested in getting involved with as the CRDN were working with Pharmafocus on the project as a way to help get the voices of rare diseases out there.
Naturally, being someone who has Ehlers-Danlos Syndrome and wasn’t diagnosed until aged 39 I was keen to tell my story. You see, I had musculoskeletal problems from birth in varying forms and spent my adult life from aged 19 chasing answers from doctors. Not only do I have this rare condition I have other ‘rarities’ that make me rare. This day is the only day that I can really associate my chronic life to regarding awareness days.
I was diagnosed in 2013 with (Benign) Joint Hypermobility Syndrome before the reclassification of EDS and the addition of ‘hypermobility spectrum disorders’ in 2017. My rheumatologist advised me after I consulted the department about my diagnosis that my syndrome was referred to as EDS so there was no need for reassessment. I am stating this for the purpose of clarifying my diagnosis as since the reclassification our diagnosis and claims are frequently criticised.
Not everyone with EDS has hypermobility, and not everyone with hypermobility has EDS!
Having rare disease makes us special people in a way, unique, because we’re so different and in my case there will be no one else like me because of the bone deformities and conditions that comprise of my skeleton, and also because of my genetics.
Just to clarify, I have birth defects Spina Bifida Occulta / Occult spina bifida (SBO); Closed spina bifida, (often called hidden spina bifida), which is actually quite common. However, being coupled with the ‘extra vertebrae’ ie: tailbone another birth defect, which is rare, I am classed as being super rare due to my SBO not being the only defect and having both is also a rarity, plus since those were diagnosed I was diagnosed with EDS known for predisposing us to thousands of health conditions.
Basically from a musculoskeletal perspective I am an ‘anomaly of anomalies’ it is ok to chuckle! 😂 Born with other birth defects in my toes and Pes Cavus – high arches and developing Scoliosis as a teenager aged 13 (26 years earlier than my EDS diagnosis), and scoliosis is often associated with such defects so makes me an incredibly rare case.
Anyhow, read the article sharing my experiences and please note that FibroFlutters is not a registered charity though we are a non-profit patient network for chronic, invisible and rare illness.
Pharmafile.com is a leading portal for the pharmaceutical industry, providing industry professionals with pharma news, jobs, events, and service company listings.
Useful disease information links in relation to my article
Classical Ehlers-Danlos syndrome
Jessica Bowen & Judy Tocher, Genetic Counsellors, EDS National Diagnostic Service, Sheffield Children’s Hospital
Hypermobile EDS and hypermobility spectrum disorders
The Sixth Lumbar Vertebrae: The Anatomy Behind the Rare Extra Bone
Spina Bifida is the rarer form than Spina Bifida Occulta
Interestingly this page about foot health and Pes Cavus which isn’t a rare disease but for information purposes I share it, mentions spina bifida as a correlating possible… Mmmm you learn something new everyday! Pes Cavus is associated with a variety of neurologic conditions, and yes, it does cause problems buying shoes. I was born with it in both feet
Find out what Rare Disease Day is about
29 February 2020 is the thirteenth #International #RareDiseaseDay coordinated by EURORDIS. On and around this day hundreds of patient organisations from countries and regions all over the world will hold awareness-raising activities.
< Through Rare Disease Day we want to raise awareness that:
- Rare is many. Rare is over 300 million people around the world.
- Rare is strong. The rare disease community is connected across borders and diseases to raise awareness and advocate for equity.
- Rare is proud. Show your support for the rare disease community with pride! The likely truth is that you know somebody affected by a rare disease.
FIBROFLUTTERS CHRONIC, INVISIBLE & RARE ILLNESS SUPPORT
Patient Advocacy Organisation & Online Community Support
Patient * Health * Research * Pharma * Advocacy
Locally we’re a Support Group for people with Fibromyalgia, Chronic Pain, EDS/Hypermobility, Mental health, Chronic fatigue/Me, Rare & others offering friendship, support & advice in Sunderland, NE UK …
… but we also offer online support, advice and advocacy via our social media network , chronic illness portal, across the globe.
and if you have a problem we are always open to discussion, just e-mail Carole
PLEASE NOTE: We are not medical professionals, but as patients we are sharing news, articles, information and resources out to you as all stakeholders to help keep you up to date within the Medical healthcare industries and chronic illness health, rare disease and our advocacy work for patients, health, research and pharma, including digital and AI in medicine.
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MANY THANKS in advance for your understanding –
from the administrator – fibrofly73 aka Carole
And my profile on Synapse where you can read about the initiatives that I am involved with
FibroFlutters on Synapse where you can read about the initiatives that we are involved with