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HMSA Work In Action; Hypermobility Spectrum Disorder

Posted By Donna Wicks, February 26, 2017

Well….yesterday a very distressed mum called the HMSA for support and this is what she told us.

Her 14 year old  daughter had been regularly dislocating her elbows and  right knee without much trauma, for a couple of years since  puberty. Now Annie was scared of school in  case someone bumped into her and caused another dislocation and she was also embarrassed of being in her PE kit as she was covered in bruises with no recollection of their cause.

The tired schoolgirl has fallen asleep during reading

Her mum listened to Annie crying with persistent pain and  watched her daughter sleep on the sofa, exhausted with persistent fatigue. Over the last six months her daughter was suffering from gastrointestinal symptoms, feeling constantly sick and reluctant to eat as it caused tummy pain.  
To make things worse she had chronic constipation and was suffering from an irritable bladder leading to incontinence. Every time she stood up Annie felt exhausted and faint. Sh esuffered from palpitations and an inability to regulate her temperature.

Annie was previously very popular and a fantastic gymnast. She was a typical teenage girl to all intents and purposes. But now Annies  friends had disappeared and the local education authority were concerned about her attendance at school. Annie was depressed, isolated,living with persistent pain and a host of symptoms which her GP didnt know what to do about.

Annies Mum did some research and realised that she may have a one of the hypermobility syndromes. She called the Hypermobility Syndromes Association for advice and support.

This is a typical case of  onset in teenagers with regards to some of the hypermobilitysyndromes.

Please help us to support Annie and her mum in getting the right information, and the right services, to improve her quality of life so she can start living it again!

Just Text 70070 followed by HMSA13 £5 or an amount of your choice. Dont forget thespace between 13 and the pound sign.

Thank you for reading.

Volunteering the Flexible Way! #HMSAware

Posted By Donna Wicks, February 25, 2017

Without our volunteers, the HMSA would be at a complete standstill. Having only 2 part-time paid staff, means that the day to day work of the HMSA, is completed almost entirely by our wonderful and passionate team of volunteers. We do not have a physical office for volunteers and staff to congregate in, instead we all work virtually the majority of the time; liaising with each other by teleconferencing or email! This makes our achievements so much more amazing and we are all very proud of the work we do.

A few times a year our volunteer Team Leaders and Team Members meet up for training and to discuss  the objectives of the charity. We are just about to meet up to discuss the impending changes to the categorisation of EDS, and the new  diagnosis for people with  Hypermobility Spectrum Disorder. We have  volunteers up and down the UK, and we promise we are listening  to all our overseas members and starting to look further away!

Volunteering for the HMSA has to be a good experience.  People need to feel comfortable in the work they do for us and they are never without support. Each volunteer has a nominated Team Leader, who is responsible for the volunteering experience of those that they lead.  In addition, our Volunteer Coordinator, Brenda Jones, is always around if needed for advice and support. We provide full mentorship to make sure our volunteers continue to feel rewarded and valued for the work they do. We help to provide goals for individuals to work towards and we can work with the DWP to assist with getting back to paid work if that is what the volunteer wishes.

Every volunteer who has face to face contact, or deals with any vulnerable person, must have full current DBS certification. It is important to us that our members feel comfortable and safe when using our services.

All organisations that have volunteers need to be able to offer training to equip people with skills needed for the role they choose.  The HMSA is very keen to ensure we match the right person, with the right role. Whether it is for our;

  • helpline, which took just under 900 calls last year,
  • social media groups, which are over most of our social media platforms
  • shop, which sends out membership packs, literature and  our HMSA branded merchandise across the world,
  • Information Standard process, we were one of the first charities to successfully gain accreditation, leading the way for many others,
  • national groups, which assist with self-management, and (where volunteer group leaders are available)  our local member support groups.

and much, much more.

Many of our volunteers go on to gain employment with skills they have developed through their work with the HMSA and through the bespoke training that we offer.


Not all our volunteers help us on a full time basis; the HMSA aims to make volunteering easy! This means we will be flexible to your needs (excuse the terrible pun!). If you wish to only do 2 hrs a week, we will find a role for you. If you have a specific role in mind, we will let you have a go and see how it works for you. If you want to volunteer but don’t know what you want to do, we will use our application and interview process to match you to a role.

 


Volunteering with the HMSA is a dynamic process, driven by passion for assisting people with Hypermobility Spectrum Disorders, or Marfan, EDS, OI, PXE or Sticklers, and for most it is a massively rewarding way of staying well informed, while helping themselves and others to live well with hypermobility syndromes. You don’t need to have one of the conditions to volunteer with us. We are just about to start recruiting people who have no hypermobility related conditions but wish to help the charity on its mission.

A few of the roles our volunteers play are very involved and time consuming (Not relying on paid staff, helps keep our overheads down), but most others require just a couple of hours a month. For more information about volunteering please e-mail volunteer@hypermobility.org.

You can be as much involved with the charity as you like, after all, we’re here to serve you and nobody else!

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.

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”

Osteogenesis Imperfecta Facts and #HMSAware!

Posted By Donna Wicks, February 23, 2017

As with many rare conditions its medical terms can be long and difficult to pronounce, Osteogenesis Imperfecta! It is more commonly known as Brittle Bones Disease; while fragile bones are a significant part of the condition, there are many other aspects of the disease that are sometimes overlooked. 

Osteogenesis Imperfecta is in fact a heritable disorder of connective tissue due to abnormalities in the collagen  gene (COL1A1) which can also affect other parts of the body.

These include:

  • Hypermobility and joint issues.
  • Weakness in tendons and muscles.
  • Flat feet
  • Dislocations
  • Kidney Stones
  • Gastrointestinal problems
  • Hearing loss
  • Heart problems

As each person is unique, no one person with Osteogenesis Imperfecta has exactly the same experiences or symptoms and often it varies over a person’s lifetime. There is a wide spectrum of people with Osteogenesis Imperfecta ranging from mild to severe.

It is very important that we all raise awareness of Osteogenesis Imperfecta and its impact on every level so as to enable everybody to obtain the appropriate support.  Further details can be found on HMSA website http://hypermobility.org/help-advice/osteogenesis-imperfecta-2/

Please donate just £5 to the HMSA this week using our Just Text service, 70070 and text “HMSA13 £5 “or the amount you wish to pay. Thank you for your support.

 


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.