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Hypermobility Spectrum Disorder and what it means to me…

Posted By FLICK MCLUCKIE, March 15, 2017

Our volunteer team took the opportunity to ask HMSA HSD Ambassador and Patron Hannah Ensor a few questions about how the changes to the classification of hypermobility syndromes might affect her.

What is your diagnosis?

My official diagnosis is “Joint hypermobility syndrome”. (JHS)

Over the years it has flickered between JHS, HMS and EDS hypermobility type, depending on who was writing the letter, and what I’d told them.

So although EDS is listed on some letters, I’ve only ever been formally diagnosed with JHS.

What do you think you would be classified as under the new system? 

From what I’ve seen, although my Beighton score is low (1/9) the system allows for ‘generalised joint hypermobility’ regardless of score, which is definitely true of me.

But I only have mild skin issues so I don’t score enough points in that section to qualify as hEDS.

So I think I’d be generalised hypermobility syndrome (G-HSD.)

How does your hypermobility affect you?

I have generalised bendiness with instability in practically every joint – and yet my beighton score is low because my knees and elbows don’t bend backwards. They bend sideways, and rotate in ways they really shouldn’t.

I have POTS – quite severely.

I have reflux and mild issues with a slow gut and a bendy bladder.

And plenty of pain and fatigue (which I almost forgot to mention because it’s become so normal for me.)

It affects me every day, every minute. Looking at my life objectively, there is very little I do in the same way as an ‘average’ young woman – I have had to adapt every aspect of my life, using a wheelchair, being conscious about posture, daily physio to enable me to function, pacing, lying down and moving about to manage POTS, avoiding heat – all sorts of things. It even affects what and when I eat and what I wear.

Does it annoy you that POTS and gastro-intestinal issues are not included in the diagnostic criteria?

It’s a bit frustrating, but actually there’s not yet enough information on how they are linked. Both POTS and gastro-intestinal issues can have lots of different causes so they can’t be part of the diagnostic criteria until they are better understood. Thankfully the new information is very clear that doctors should be aware of, and look out for these linked conditions in someone who has an HSD or hEDS – and there’s some really useful management guidance on them too. I really hope more research happens soon, but until then I think I’m in a better position for accessing help with POTS and GI issues because there is now clear, concise, up-to-date information I can refer my doctors to – regardless of whether I’m HSD or hEDS.

Do the changes scare you?

Of course. Change is scary, and as it took me 20 years to get my current diagnosis, the thought of possibly ‘losing’ the respect that saying ‘I have EDS’ can get from medical professionals is very unsettling.

What would you say to others who are in a similar position?

I’ve found it helps to focus on the fact that it said that HSD is not necessarily milder than hEDS – both can vary in severity. And the HMSA ‘clinicians guide’ (which I’ve heard a little about) is explicitly for both hEDS and HSD – making it clear that us HSDers can experience the same debilitating symptoms and even the same associated conditions – POTS, gastro, MCAD etc. So once it’s published we’ll put a link to it here [Edited to add: An update for clinicians].

This has never been officially, scientifically acknowledged before, and this fills me with hope that more and more doctors will take HSD seriously. Far more seriously than ‘hypermobility’ ever was.

And don’t forget that charities like the HMSA are on our side – helping to ensure that all of us are taken seriously. They not only support patients but educate medical professionals too. Being Patron, volunteer and HMSA HSD Ambassador, I’ve seen first hand how hard they are working to ensure that people with HSD are not seen as ‘just a bit bendy’. I’m actually doing a talk as part of an HMSA Hypermobility Masterclass on living with HSD for medical professionals that the HMSA is helping to run in a few weeks time. I will be fighting the corner for everyone else with an HSD too.

What will you be doing next about your own diagnosis?

Carrying on as normal.

Treatment for both hEDS and HSD is symptom-based in the UK. I don’t need to see someone to officially get ‘re-classified’. Re-classification is something that will happen along the way if I need to access services/support/advice through someone who thinks it would be helpful to re-assess me. And actually I can expect to be reclassified at various times during my life as my symptoms change – because it is a spectrum condition which can change over time.

And until I’m reassessed I will either use HSD or JHS – not assessed under the new system yet.

And on a reassessment note, I like that this new system recognises that it is a spectrum that people can move about on. Being G-HSD doesn’t mean ‘definitely not hEDS’ – it means ‘currently not showing specific symptoms of hEDS – symptoms may emerge later so keep an eye out’. If I become less symptomatic it might change to Asymptomatic-HSD – or if I get more skin related issues it might change to hEDS. If I get less flexible with age, but haven’t developed symptoms that class me as hEDS I can slide along to H-HSD (historic HSD) – whatever my symptoms are, I can have a diagnosis that accurately reflects how I am affected and flags up the potentially linked conditions to look out for. It’s so different from the previous system that it’s a lot to get my head around and will take me some time to get used to!

How would you summarise how you feel about the new classification and associated information?

Well…

…a bit of “oh help, it’s changing” is going on in my head….actually, maybe quite a lot!

But underneath that, having read a lot of the new medical articles in the journals, the new criteria and all the linked information that has been published along side them means that although I don’t think a positive effect will be instantly visible, I think the future is looking up.

So I am taking a deep breath, ready to ride out any initial period of uncertainty, but full of hope for the future.

Letter to Health Professionals regarding EDS Classification 2017

Posted By FLICK MCLUCKIE,

Please see attached document, reproduced below the link. To print please right click on the link and ‘save file as’ We will make this available in other formats as soon as possible, thanks for your continued patience.

professional letter, re 2017 EDS criteria and HSD    PDF version – prof-letter-1

 

 

15th March 2017

Dear Health Professional,

Your patient has brought this letter to you following changes published today, to the classification of Ehlers-Danlos syndromes and to the Joint Hypermobility syndrome diagnosis. Many of the people affected by these changes are understandably worried about the future impact of these changes on their care and treatment. The HMSA has updated our website on information which may be of help to you and your patient.

The diagnostic criteria for hypermobile Ehlers-Danlos syndrome (hEDS, previously known as Ehlers-Danlos hypermobility) have changed significantly, details can be found on our website. In addition ‘Joint Hypermobility syndrome’ is now obsolete having been replaced by the diagnostic term, Hypermobility Spectrum Disorder. You can find details of these changes, including an article called ‘Hypermobility Disorders – An update for clinicians’, on the HMSA website, hypermobility.org

The HMSA has been working with people with Hypermobility Spectrum Disorders for 25 years and is best placed to share its considerable experience and education opportunities. A few years ago, at the request of members, we agreed to bring all the  Ehlers-Danlos syndromes, Marfan syndrome, Osteogenesis Imperfecta, Stickler syndrome and PXE under our umbrella to promote ‘living well’ with these conditions by providing self-management courses and information. We also offer a helpline, social media closed support groups and a patient membership.

The HMSA can offer assistance to medical, health, social and educational professionals in providing information or support to practitioners. We also offer a professional membership scheme which has proven to be very successful and run bespoke HMSA Hypermobility Masterclasses for clinicians. If you would like more information please contact us by emailing professionals@hypermobility.org

Yours sincerely,

Donna Wicks (CEO)

HMSA statement on release of new EDS nosology.

Posted By FLICK MCLUCKIE,

The HMSA listened with interest to The Ehlers-Danlos Society webinar this afternoon (GMT).

We will be discussing the finer details and come back to you with any further comments in due course.

In the meantime, please know that the HMSA has been working with HSD for 25 years and believes we are well placed to continue to offer our experience to the HSD community. We will continue to lobby for earlier diagnosis, treatment and management.

With regard to the changes to the nosology for the EDS syndromes, the HMSA is pleased that recognition has finally been given in the influence of hypermobility.

The HMSA has been an umbrella group for many years for people with HSD, EDS, Marfan, Stickler, OI and PXE because of the lack of support for hypermobility issues.

We are very passionate about our work to assist people in living with their complex and multi-systemic conditions and in educating the professionals that members are likely to meet in their journey, through the health, social and education services.

We are already directing and assisting with a care pathway in the UK and  have developed an HMSA Hypermobility Professional Masterclass, which is run regularly. Currently we are developing a new model of work in Kent, which involves building up a network of professionals, who are trained by us and our medical advisors. This is on top of us trialling a new HMSA Self-management Programme in conjunction with local services.

The services we supply enable us to support everyone because these services are devised by real representatives of people with the hypermobility disorders or syndromes. You, whether a full HMSA member or a member of our wider community, are what matters! It’s your needs we aim to meet and support.

There ‘really’ is room for everyone under our umbrella!

Best wishes,
Donna, CEO

Professional Membership of the HMSA, Jo Southall (OT) for #HMSAware

Posted By FLICK MCLUCKIE, February 24, 2017
My relationship with the HMSA started way back in 2010. At the time I was a 19 year old outdoor adventure instructor with mystery joint pain and an impressive range of injuries. A physiotherapist mentioned I was ‘pretty hypermobile’. After half an hour on google and I was fairly convinced I did, in fact have Hypermobile Ehlers Danlos Syndrome. I spent the next year on the then HMSA forums, learning everything I could. When I finally managed to see a rheumatologist they confirmed my suspicions. 
The diagnosis was a turning point my life, It became clear that my impressive range of injuries were unlikely to clear up and my job was likely to become impossible. Age 21 I got my first wheelchair and headed off to university to study Occupational Therapy.  Over the 5 years it took me to become an Occupational Therapist the HMSA was a constant source of support and I did my best to repay the favour by volunteering.  Now I’ve finished university and the HMSA continues to be a source of support and inspiration, not only in my personal life but my professional one as well.  
Part of the HMSA’s mission is to support people with hypermobility syndromes and this includes creating a wider network of experts across the UK and around the world. Many of our members are severely disabled by their conditions, this is exacerbated by lack of access to medical professionals with the interest and proper knowledge base to help. By spreading awareness to both the general public and health and social care professionals we aim to support early diagnosis and proper intervention.
  
Becoming a professional member gains you access to our evidence base, professional support and development. The Professionals only groups provide learning and networking opportunities. As a professional member you also get priority booking for professional development events.    
 
The HMSA provides a constant supply of information standard approved resources, the perfect starting place if you’re new to the condition. Regular updates are provided in the twice yearly journals and quarterly e-newsletters and as a professional member you have the opportunity to submit articles and get published in both of these. Professional membership also offers you access to a highly trained and dedicated team of health and social care experts on Heritable Disorders of Connective Tissue. Initial contacts for this are Dr Alan Hakim (Chief Medical Advisor) , Ms. Donna Wicks (CEO/RMN). If you’re a researcher the HMSA will also provide email support and even assist with recruitment for relevant studies.  There is also the option of having your details on a ‘contact list’ for the HMSA to use to inform patients of your services.  
There is more information about the specific benefits of Professional membership on the HMSA website.
Personally, I think there is one benefit worth more than any of the others. As a professional member you have the opportunity to learn how living with a hypermobility syndrome truly impacts the lives of your patients. The HMSA is run by a dedicated team of volunteers and supporters, many of them, (like myself) are trained health and social care professionals. They are also patients. Living well with a hypermobility syndrome often means daily physiotherapy, lifestyle adaptations, mobility aids, medications and more. The day to day experiences of patients are parts of life that medical professionals are rarely privy to. Here with the HMSA you have the opportunity to experience that, learn from it and use it to improve your professional practice.   
 

Jo Southall, HMSA Volunteer & Independent Occupational Therapist.

To support the work we do please Just Text “HMSA13 £5” (or your preferred amount) to 70770. Your donation is appreciated and goes directly to members support, we are volunteer run so we don’t have large overheads.

#HMSAware, Differential Diagnosis in the hypermobility spectrum

Posted By FLICK MCLUCKIE,

In medicine, differential diagnosis is the distinguishing of a particular disease or condition from others that present similar symptoms.  By bringing heritable disorders of connective tissue together under the HMSA umbrella, and raising awareness of the symptoms that can overlap between these disorders, we hope to increase the chances of patients, and the physicians treating them, recognising that there is list of potential possibilities for the symptoms experienced, thus increasing the chances of accurate diagnosis. Click here to read Rachel Martin’s account of just how important the consideration of a differential diagnosis was to her life.

THE IMPORTANCE OF CONSIDERING DIFFERENTIAL DIAGNOSIS
by Rachel Martin
I was born with a cleft palate, a split uvula and was a very “floppy” baby. I’m still “floppy” today. I’ve no core strength, but as an adult I can manage it better. My mum had awful trouble feeding me. I had surgery on my cleft palate at 18 months but the surgeon said that it wasn’t the reason for my low appetite.
Tests were carried out in Crumlin hospital and they discovered that I had a diaphragmatic hernia, all of my organs were on the wrong side of my body. My parents didn’t know what was going on. It was the 1980s. There were no support groups and no genetic testing.
Growing up I was told I had congenital muscle myopathy – weak muscles. Imagine explaining that to someone in the playground. It was really making me stand out from everyone else because I was “different”. And I hate using that word, but that’s the way I felt.
I had my chest flattened as a teenager because I had pectus carinatum, a chest that protruded out. It’s called a pigeon chest, and mine was very severe.
They also tried to fix my shockingly flat feet and my crooked big toes, but that wasn’t a success unfortunately.
In 2001, I arranged to go and have an echo done, ‘just in case’! When I met the cardiologist afterwards, he immediately labelled me as having Marfan syndrome (MFS), and that is what I lived with until July 2008!
In early 2008, my brother who lives in Boston was travelling to work and heard Dr. Dietz speak about clinical tests with losartan for Marfan syndrome patients on the radio, and also heard him mention the National Marfan Foundation conference in Boston the following July. My brother encouraged me to fly over from Ireland to attend the conference but it took a little persuasion with various pieces of the jigsaw fitting together perfectly. I signed up for the conference and went. I was also lucky enough to be accepted for clinic appointments on the Friday, seeing genetics, orthopaedics, cardiology and ophthalmology.
I had an echo carried out on the Thursday and then came back for the clinic on the Friday. As soon as the geneticist saw me, the question of Loeys-Dietz syndrome (described by Dr. Bart Loeys and Dr. Harry Dietz in 2005) was raised. The white of my eyes are slightly blue, stretched surgery scars, the cleft palate and split uvula are all classic signs of Loeys-Dietz syndrome (LDS). Many of my other features are common to Marfan, such as long digits and lax joints. 
When the ophthalmologist confirmed my eyes were fine, that added to the possibility of my clinical diagnosis of Marfan syndrome being incorrect. The echo was then measuring an aortic root dilation of 4.1 cm and it was advised that I should have heart surgery straight away.
Obviously I was upset, shaken and confused with this news, especially being away from home and my own doctors. I didn’t know how long I had left and felt every minute was a blessing.
On my return home, the rollercoaster went full speed. I visited a geneticist who arranged for genetic testing to be done. The sample was sent to Ghent University where Dr. Loeys’ team carried out the testing. I have a mutation in TGFBR1 gene…after 28 years I finally had a diagnosis and reason of all the problems I’ve grown up with. I also contacted my surgeon, who I had been seeing and told him about this new probable diagnosis (before genetic results were back).
To cut this story a little, I had very successful aortic root repair and valve sparing surgery carried out on the 9th September 2008 in Dublin. The surgical team and hospital staff were incredible. Surprisingly this surgery was one of the easiest to recover from out of all that I can remember. I was perky on day 3 and home on day 8. I was delayed a little due to low blood pressure and oxygen levels but they eventually creeped up. I was back to work on a part-time basis 8 weeks post op.
In January (2009), at a follow up appointment after the heart surgery, I was informed I had an extremely severe case of dural ectasia, but at that time I was fortunate it wasn’t causing me too many noticeable issues. The following March (2009), I suffered a second spontaneous spinal fluid Leak. This time I was in a horizontal position for 10 days before being admitted to hospital for a blood patch. Two weeks later, I had full urinary retention and was catheterized for 9 weeks until one morning the catheter decided to come out on its own accord. I have managed without since. This retention has led to me try to find solutions to this problem, in particular surgery for the dural ectasia or tarlov cyst as it was being called. 
I also experience severe headaches which are in part due to my cerebral spinal fluid, which protects the brain and spine.  I need to stay de-stressed and drink fluids to keep the headaches at bay. 
Every year I have an MRI and echo cardiogram done. I have a hernia that I’m going to have repaired and I have an aneurysm in around my kidneys that they have to keep an eye on too. My hip started hurting a few months ago and I could barely walk for three to four weeks. It was a really intense pain, for no reason. The orthopaedic surgeon said nothing could be done.
That’s what I often hear, “Oh, it’s just you, it’s just the way you are.” That’s so disheartening.
Between everything, I have had to give up my job as a property manager in Dublin, something I had really loved. I moved home and I’m fortunate to have such great parents and to be able to live with them.  I hope that someday I will get back to work, but my problem is that I’m not reliable. A cold wipes me out. A pain wipes me out. My life isn’t the way I want it to be, it’s taken a different turn. But there are a lot of positives in it. Music keeps me going. I’m very involved with the local adult choir and I’ve made a lot of friends through that.
Considering differential diagnosis when assessing patients for heritable disorders of connective tissue is so important. In my case, having Loeys-Dietz syndrome recognised may have saved my life.
Loeys-Dietz syndrome is a multi-spectrum, genetic disorder of the body’s connective tissue. It has some features in common with Marfan syndrome, but it also has some important differences.
Aortic dilation can be a lot more aggressive in LDS than in MFS.  The surgical intervention stage for LDS is recommended at 4cm-4.5cm, whereas with Marfan syndrome it is 4.5cm-5cm.

Patients with LDS are also at risk from other aneurysms elsewhere on the arterial tree and therefore should be monitored very closely for such.

More information on Loey-Dietz syndrome can be found at: https://www.marfan.org/loeys-dietz

To help the Hypermobility Syndromes Association continue our important work in this area, please Just Text ‘HMSA13’ followed by the amount to 70070 eg to donate £5 – “HMSA13 £5”


Disclaimer
The information provided by the HMSA should not take the place of advice and guidance from your own health-care providers. Material in this site is provided for educational and informational purposes only. Be sure to check with your doctor before making any changes in your treatment plan. Articles were last reviewed by our Medical Advisors as being correct and up to date on 5th June 2004.

Please be aware that information posted on the discussion boards is the opinion of the authors and has not necessarily been approved or endorsed by the medical advisors.