In case you missed the memo, today is Rare Disease Day 2017!
Added together, rare diseases are not rare. Around 1 in 10 people have a rare disease.
A disease is classified as rare when it affects fewer than 1 in 2000 people in Europe.
2017 is the 10th Rare Disease Day and has a theme of research. I’m going to talk a bit about the new EDS research and diagnostic criteria due to be released very shortly.
As many of you know, my rare diseases are Ehlers-Danlos and Gastroparesis. EDS has an estimated overall incidence of around 1 in 5000 but could be more common.
In the EDS community we are awaiting the release (on March 11th) of new research papers and new diagnostic criteria for many
types including the hypermobile type.
The research has led experts to create a new diagnosis of Hypermobility Spectrum Disorder (HSD). This will cover those with connective tissue problems that don’t quite fit into any of the well-defined syndromes. HSD is not thought to be rare at all and could actually be quite common in the general population. The old, confusing (and often controversial among many with EDS) JHS diagnosis has been retired.
So What Does All This Mean For Zebras?
We can’t know precisely at this stage what it will mean on an individual basis until the full research and criteria are published. The Ehlers-Danlos Society did say however, that people with a diagnosis do not need to rush out and get re-diagnosed. So please don’t inundate clinics with requests!
There has been a lot of mis-information on social media as well as some blogs from people who have accessed the few available pre-released papers online. Often they don’t understand how to read a scientific paper or fully understand what a nosology or a diagnostic criteria is.
As a result of the scaremongering and conjecture, many with EDS or JHS diagnoses have become very anxious to find out what is going to happen, which is completely understandable. People have insurance to deal with, disability payments to fight for etc.
I can only speak for the UK. In the UK disability benefits are awarded based on symptoms and how affected you are not the name of your condition. Much to the chagrin of some on social media who are only mildly affected! So please do try not to worry about this but do fight the government’s back door PIP reforms which affect those of us with dysautonomia.
Access to UK services should not be affected, in fact it should get better! Treatment has been recommended for everyone with either hEDS or HSD diagnoses in the pre-releases.
The Ehlers-Danlos Society will be releasing the full research documents as well as lay versions on the 11th of March.
What Does It Mean For EDS?
As a patient group however this is massive. This gives us many newly recognised extremely rare types of EDS. It gives us new criteria for the new types and for more well-known types. It also gives us research and literature review papers showing all kinds of associated symptoms and co-morbid conditions that many doctors patients come up against dismiss as “not part of EDS”. These will be very helpful for us as individuals who often need to fight our own corners.
Most importantly for the hypermobile type, the new criteria should really help researchers find the gene(s) they have long hunted for.
Tracking different levels of diagnosis between HSD and hEDS within families could also help unravel the genetic causes of these connective disorders as penetrance seems to be such an important factor.
This is the first new diagnostic criteria for Ehlers-Danlos in 20 years. The Villefranche criteria was in desperate need of updating as we have learned so much since it was written and dozens of new types have been discovered and will be included in the new set.
For zebras of all stripes who have questions about the new criteria (when they are released) or who need support do look up the HMSA. The HMSA have supported those of us with hypermobility syndromes for 25 years throughout all of the name changes and developments.