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Points for Reflection

1. Fran says that no one else in her family has been diagnosed with HMS so far. Given the type of inheritance pattern for the condition, could this affect others in her family?

2. Is Fran right to suggest that some conditions are less likely to evoke support and understanding because they are invisible? Think about the impact this might have on your own patients who have Ďinvisibleí conditions.

3. Fran talks about the difficulties of being in pain. What experience have you had with patients with chronic pain? How does their intractable pain affect you as a professional?

Activities

1. Fran talks about the pain she experiences daily. What services exist in your locality to help them manage the pain? Find out how you might make a referral to those services.

2. Fran has identified her fears for the future, especially in relation to reproductive choices. How would you support her?

3. How would you as a health care professonal lworking with Fran sensitively raise the issue that this might be something that other family members might need to consider? Role play the discussion with a colleague

Quotes

"Being in pain and not being able to do things gets me down. I donít want to be seen as a moaner, so I keep things bottled up and rarely talk about it."

"I worry about the future Ė what will I do if it gets worse? Will I be able to work and look after my family? Will my children be affected?"

"HMS may not kill you, but it can take your life."

Further information

The Hypermobility Syndrome Organisation website http://www.hypermobility.org/ includes information on the management of pain.

Ehlers-Danlos Support Group: http://www.ehlers-danlos.org/index.htm/

US National Library of Medicine, Genetics Home Reference: Ehlers-Danlos

Human Fertilisation and Embryology Authority (including information on IVF): http://www.hfea.gov.uk/cps/rde/xchg/hfea/


Location: The Stories
Transcript

You can download the full transcript here

Franís story: Living with hypermobility syndrome: it might not kill you but it can take your life away
Franís story of this autosomal dominant condition

I started getting pain in my joints and muscles when I was 16, and was eventually diagnosed with Hypermobility Syndrome (HMS), also known as Hypermobile Type Ehlers-Danlos Syndrome (EDS). No-one else in my family has been diagnosed with it so far, although some of them are hypermobile. I am now in my mid-twenties and work with children.

HMS/EDS is a hereditary disorder that makes connective tissue stretchy and fragile, so my joints are unstable and I have chronic musculoskeletal pain and muscle spasm. I take several different medications including antidepressants, anti-inflammatories, painkillers, and muscle relaxants to make the pain more manageable, but it is still severe, and the side effects of medication can be troublesome. One drug caused me to have a seizure and lose my driving licence; one made me so sick I lost over half a stone in a few weeks; another made me shake so much I couldnít drive.

I find it difficult to walk or stand for long and have to use a wheelchair some of the time. Although it reduces my pain, I try to use a wheelchair as little as possible, because I donít want my muscles to weaken and donít like depending on others to push me. People are often surprised and confused if they first meet me walking and then meet me using a wheelchair, or vice versa: I get a lot of embarrassing questions about whether I have been in a car accident or how I got "better" so quickly. To many people, I appear young and healthy, which makes it even more awkward to ask for a chair, to use the lift, or where the disabled toilet is. When you live with pain every day for years on end, you are forced to adapt to it. I can smile, laugh, and have fun; I try not to let pain show on my face, and I only cry now when it becomes truly unbearable. That doesnít make the pain any less real or unpleasant.

Being in pain and not being able to do things gets me down sometimes. I donít want to be seen as a moaner, so I rarely talk about it except to close family and friends, and try to hide it in front of people I donít know well. I am anxious about how my condition will affect me in the future. What will I do if it gets worse - and perhaps stops me from working? Will I have health problems when I am older because of all the medication I have to take? Should I have children? There is a 50% chance that my child would inherit my disorder, and no pre-implantation genetic diagnosis or prenatal genetic test available. Even if there was a prenatal genetic test, I don't think I'd be comfortable with terminating a foetus because a test showed it would have HMS/EDS.

My experience with the NHS has not been very positive, although there have been a few healthcare professionals who have been truly understanding, caring, and helpful. I feel like I get little support from the medical profession and that there is no one really looking out for me and trying to help me improve things - I'm just left to get on with it on my own. I see my GP twice a year to have my medications reviewed as a formality, but no one is actively trying to improve things. I don't see any specialists at present, although in the past Iíve seen more than 10, specialising in pain management, orthopaedics, rheumatology, and oral-maxillofacial disorders, and about as many physiotherapists. Many had never treated a patient with HMS/EDS before (or even heard of it). It has been difficult dealing with so many healthcare professionals, because no-one seemed to have an overall picture of what was going on, and I have had so much conflicting advice from them that itís hard to know who to listen to.

Some people have hypermobile joints without pain because, although they are more flexible than average, their connective tissue is normal. You canít see pain or measure it with a blood test, and to many doctors, this seems to mean that it doesnít really exist: I cannot count the number of times I have been told that the pain is "all in my head" or "psychosomatic", even though numerous research studies have shown that HMS/EDS causes chronic pain. Although I have a lot of difficulty walking and with other tasks, I have never applied for disability benefits or a blue badge - I am scared that if I claimed benefits, doctors might think that I am exaggerating my difficulties for financial gain and treat me even more dismissively. When I became depressed, I did not seek help for a long time because I was afraid that some medical professionals might assume my pain was related to emotional problems and that this would affect my treatment.

When I had surgery on my joints, the nursing staff did not take my disorder into consideration and refused me adequate pain relief. I was told that I needed to get over it, because the patient in the next bed had had the same surgery and he was managing without additional analgesia. He didnít have HMS/EDS, but that seemed to make no difference to the nurse. After my first surgery, my surgeon found research showing a higher incidence of severe pain and complications in patients with HMS/EDS following this type of surgery. I was promised that for the next operation, the nurses would be informed and that sufficient pain relief would be provided, but none of the nurses seemed to know about this.

I continue to struggle with my condition on a daily basis and can't do a lot of things other people take for granted - but I hold down a job and get on with my life. When I look back, I have achieved a lot despite the obstacles in my path. Medication and adaptations have made a huge difference to me, and I remain hopeful that medical research may result in new treatments for HMS/EDS. However, HMS/EDS is largely invisible, itís not fatal or dramatic, and itís not well understood scientifically; many medical professionals have little or no up-to-date knowledge about it. Unfortunately, this leads some to dismiss the very real problems that it causes. While HMS/EDS may not kill you, it can take your life - but with understanding and proper treatment, it is possible to get it back again.