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.
We are a Patient Advocacy Organisation & online social media communications network
FibroFlutters patient, health, clinical research, medical, pharma, digital health & AI advocacy.
Support and advice for people with chronic illnesses and rare disorders. Including, Pigmented Villondular Synovitis (PVNS), Ehlers-Danlos Syndrome (EDS), Hypermobility Spectrum Disorders (HSD’s), Fibromyalgia, Chronic pain disorders, Musculoskeletal conditions, Chronic Fatigue Syndromes / ME, and Mental Health.
We also have a Social media network for connecting multi-stakeholders from across the medical healthcare industries. It also provides us with a network for sharing information such as the latest research, news and events from a cross-section of areas within the medical healthcare industry.
We also have many other groups/pages/profiles across social media that we use to achieve our aims of Patient, Health, Research and Pharma Advocacy. They also give us the ability to provide advice and offer a friendly hand of support across many social media platforms.
SLOGAN: #chronicillnessVOICE for everyone #notjustpatients
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Social and useful links
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SYNAPSE / Patient Focused Medicines Development (PFMD) joined in 2019
Check out our profile to see what initiatives we’re involved in, what the work will involve and how diverse a group of people that we are collaborating with on improving patient engagement within clinical trials. Very different! Very exciting! Very Grateful!
Got something to share then don’t hesitate to get in touch with us. Also if you want to write for me in exchange for publishing privileges let me know via the e-mail link below.
FibroFlutters are continuously…
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