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Osteogenesis Imperfecta – More Than Just Brittle Bones! #HMSAware

Posted By Donna Wicks, February 23, 2017

I was diagnosed with Osteogenesis Imperfecta at the age of two after several broken bones. Apparently, the doctor who diagnosed me took one look at my eyes and saw that instead of white sclera mine were blue; a tell-tale sign of the condition. My parents were told that my bones would break easily, and that hopefully, this would lessen as I got older. I endured several breaks over the next few years and when doctors suggested that a warmer & sunnier climate may be beneficial, we emigrated from the UK to South Africa. I was about nine years old. Not many doctors in South Africa knew about OI, and so my orthopaedic surgeon learnt about it as we went along with various issues.

 

Only in my teenage years and my 20’s did it really come to light that OI was also considered a heritable disorder of connective tissue and it wasn’t just bones that were affected. That explained several things; the blue sclera and easy bruising, flat feet, and poor muscle tone to name just a few. Many people with OI suffer with heart problems and fatigue . My doctors had never mentioned any of this to me so it was a case of learning along the way.

 

In 2002, I had to have my two top wisdom teeth removed and had it done under general anaesthesia in a hospital, where a maxillofacial surgeon performed the extraction. My greatest fear was the possibility of my surrounding teeth been damaged during the operation. Fortunately I was in the hands of a very good surgeon and he had done his research!  Interestingly, he informed me afterwards that my tissue was different to someone without OI and that I also bled more than the average person.

As I have now entered middle age, more challenges appear to await me. Self-management is always key to living well and thankfully, drugs are available now that weren’t many years ago but I feel that the future is still a scary prospect. Exercise is really important for someone with my condition but at the same time I have a real fear of injury because of the pain but limitations fractures can cause me. Swimming is one of the safest exercises for people with OI but unfortunately it has no weight bearing benefits, and we know that for people with OI (or for anyone really) there is a need to weight bear, as much as possible, as it helps to strengthen bones.  Having a milder form of OI I have been fortunate enough to be able to walk but there are people with more severe types, who are heavily restricted and wheelchair bound.

 

Whilst I am glad that I have been able to mobilise independently, life has not been without challenges! Most people do not realise that I have OI, even though I am much shorter than most people and have a limp due to a shorter somewhat disfigured right leg.  At school teachers, and fellow students, couldn’t really grasp my situation as they could see I could walk. This lack of understanding followed me into the working world.

 

Many medical practitioners in South Africa and across the world do not understand much about OI. They are therefore, unable to teach us about the conditions and how to best manage them.  The public health care in South Africa is very bad, so people need to try and go privately to see professionals. This is very expensive but I am lucky that I have a specialist who at least understands osteoporosis in elderly care, so he has some advice and options he can give me and works in partnership to assist me in managing my condition.

 

People with OI have to educate themselves, which I think is something that anyone with a rare disease has to endure.  This is what I think those of us with a rare disorder really needs, the both support and understanding. Having OI can affect one both physically and emotionally. Having support from family and friends can make all the difference in our lives. In today’s era of social media, and much wider access to organisations via the internet, information is easier to get and it helps to interact with other people sharing similar problems, and most of all to develop support networks, so you feel less isolated.

Julie Anne Beavis

Gauteng, South Africa

If you like Julie Anne’s story please donate using our Just Text facility. Please text 70070 and enter “HMSA13 £5” or the amount you would like to give.

 

‘Coping in school’! Be #HMSAware!

Posted By Donna Wicks, February 22, 2017

Being a teenager is one of the huge whirlwinds of life and is complicated enough without our (what I like to call) “added extra’s.” Unfortunately, being a teenager and developing problems linked to our hypermobility seems to come as a package deal for a few of us.

The first thing that I think is super important for everyone to remember; is that you’re a teenager first. You’re a hypermobile teenager second. You are still a child, still someone trying to figure out what you want in life and who you want to be. When your life suddenly turns on its head, you change, and the way you see yourself changes too. It’s so important that the people around help you see that your still you, just with a few new “added extras.” You have to learn to shift your expectations and accept what limitations you have, but to never give up.

 

Years 9 – 10 seem to be the peak time of diagnosis for hypermobility syndrome, this can be difficult as secondary schools can be difficult to navigate and pose their own unique challenges. You feel different and not so much yourself as before, some schools tend to struggle to cater for accessibility needs, which can create the feeling of being a burden and feeling as if you stick out even more. I had to take routes outside in my wheelchair as their were stairs stepping up along the ground level of my school, in the winter you can see why this was especially hard and subsequently it took twice as long, sometimes leaving me late for lessons and creating more problems with me adjusting to this new situation. It’s also difficult having an illness that is hard to diagnose and for others to understand. Many people assume that you’re exaggerating as “they’re hypermobile” and manage just fine; hey they’re even better at some sports because of it! Hypermobility syndrome is an entirely different beast and something that only affects some of us, leaving people to make unfair assumptions.

 

You cannot always push through your illness, no one is trying harder than you, but sometimes the best thing you can do is to stop trying. The dreaded “pacing” I know! Some people may tell you you’re not trying hard enough or are being soft, it’s the hardest thing to hear when in fact you are doing the exact opposite and can make your condition worse by pushing through. I still remember being in school for a short period of time and a teacher telling me I ought to be back in school full time by now. I’m not joking either.

 

You must remember that you aren’t a burden, you aren’t an inconvenience and you are no more important, but certainly no less important than anybody else. One of the most important things is learning to have balance, the right amount of exercise, work, rest and most importantly, happiness and fun. You deserve, like everyone else, to have fun with your friends and enjoy some down time for yourself. One thing that became an option for me at the beginning of year 9 was to drop certain subjects, it’s a tough decision and not one you want to have to make, but there comes a time where you need to be able to enjoy a life outside of school. One option is to try looking at subjects that involve more coursework than exams. For me it was difficult at the time, but now sitting in year 11 revising for my GCSE’s I’m so glad I made the choices I did, I’m now planning on going to college next year instead of Sixth Form (something I never planned either) to study a two year course in photography. Your life is going to turn out differently, you are forced to take a different path, my GCSE results won’t look the same as my peers but those marks will mean more to me because of how much harder I had to work to get them.

Until I started experiencing more severe symptoms over the last two years I’d never have thought about photography being “my thing” but it is! You will find that due to certain limitations you find new passions born out of the hardest of times. My first photos for my GCSE course were taken during a difficult hospital stay; it’s funny what you might find out about yourself! College will offer me so much more than what I have now; they cater brilliantly to needs “outside the norm” and hold very little, to no, restrictions on what I am able to participate in. I didn’t want to consider other options outside what I thought I would do but once I did I found it was much better than trying to reclaim what I had missed. You can’t get those years you missed back, you have to look forward and at all the things you would never have done if it weren’t for your struggles.

Although it’s hard when people ask, and you really aren’t sure what’s wrong with yourself, know that there does come a time when you find charities and organisations like the HMSA, and are able to make sense of your body and why it is the way it is. Which brings me onto my next point; being listened to.

As teenagers we are expected to act like adults and treated like children, which seems to only intensify when you have a misunderstood illness, are speaking to doctors, who sometimes need to do a better job of listening as well as explaining. YOU are in your body and YOU deserve to be listened to as you and only you really know the way you’re feeling.

 

This time in your life can be really tough, especially when dealing with hypermobility syndrome on top of the teenage struggles. You’re still you, you can still have a wonderful time in this chapter, just remember its not the end of the story.

 

Hope Simpson

HMSA Youth Reporter

Marfan Monday, our Marfan Ambassador is #HMSAware!

Posted By Donna Wicks, February 20, 2017

Throughout February I’ve been sharing my story and experience with Marfan Syndrome because as well as it being #HMSAware week and Rare Disease Day on the 28th, it is also Marfan Awareness month!

Over the past few Mondays I’ve covered everything from my diagnosis, childhood symptoms and finally my scoliosis journey. Today though, for my spot this week I’m going to be covering some of the lesser heard of and talked about secondary conditions and symptoms that I’ve experienced thanks to Marfan.

After my second spinal surgery I found myself experiencing pains in my both my hips, part of me thought it was just normal joint pain for me but something told me that there was more to it. So, off I went to the doctors where unfortunately the doctor just examined me a little and said my hips were normal, I knew something wasn’t right though and pushed for a referral to see someone at the same place where I had my spinal surgeries. I managed to luckily be referred to see someone, who had a good enough knowledge of Marfan, to see that my hips weren’t normal and x-ray’s confirmed this.  I had a hip deformity called protusio acetabuli in both my hips. It has made my hip sockets too deep and this has led to wear and tear. I was told straight away that both hips would need replacing at some point but we hoped that was years away. Unfortunately CT and MRI scans showed that the problem were further along than first imagined though. My right hip was worse and I had only a thin layer of bone making up my socket so having a hip replacement was unavoidable and I was put on the waiting list immediately. I had the surgery when I was just 18, not an ideal situation as it will have to be re-replaced many times throughout my lifetime but it has solved my pain issues and improved my range of movement. My left hip isn’t as damaged so it seems that we can watch and wait with that one.

 

I then received a diagnosis last year that also complicates the situation with having another hip replacement though. After ongoing chronic back pain I finally found out what the cause was, a large tarlov cyst was found in my sacrum. Apparently it had come up on my scans before but was never regarded as an issue, hence I wasn’t told but it had grown and was starting to erode away my sacrum leaving me at risk of fractures, meaning that a hip replacement is mostly likely going to cause such fractures due to the force needed. Unfortunately it was decided that surgery is too risky for me to undergo to improve my pain though. I use a powerchair to get around now, both because of my back pain as well as other issues.

 

Leading on from that I think recognising and treating pain related problems in those with Marfan is something that really needs to be improved in the UK. In my experience not enough doctors recognise that there are many different secondary conditions that Marfan can cause that can both cause pain and even require surgery. For example, if I hadn’t pushed for a referral to a hip surgeon then I would have been walking around at risk of fracturing my hip. Whenever I see doctors and they know about Marfan often they only have a decent knowledge of the life threatening heart problems which is fair enough but it has meant that the other Marfan related problems have been neglected over the years. Often even the people I know think that my problems are just generalised pain, rather than connected to a specific problem that has either required surgery in the past or will require surgery in the future. It’s been a tough journey over these past 4 years and I have a lot more ahead of me including dealing with this cyst and the associated pain as well as the fact that I will be needing major open heart surgery in my early twenties most likely.

 


I make the best out of the situation though and love using my experiences to help support others, whether that be through my blog or through the HMSA as their official HMSA Marfan Ambassador! Being able to answer questions, aid in the diagnosis process or just educate and inform people is amazing and the connections I’ve made through it all keeps me smiling. Yes I might have had a few surgeries, yes I might be in chronic pain all the time and yes I do need heart surgery but, just being able to help one person can often make me forget all about that.

Shona Cobb,

HMSA Marfan Ambassador.

shona@hypermobility.org

If you enjoyed this piece why not donate £5 (or your donation of choice) to the HMSA? Just Text “HMSA13 £5” to 70070 Every penny does count and goes directly toward our awareness, support and educational activities since as a volunteer run organisation we do not have the high overheads or commitments that larger charities have.

2017 sees the HMSA celebrate the 2nd UK Hypermobility Syndromes Awareness week #HMSAware

Posted By Donna Wicks, February 19, 2017

Are you #HMSAware?

Follow the HMSA’s website and social media for a look at the conditions the HMSA works with, their impact on the lives of those who have the disorders and how the HMSA helps by raising awareness and lobbying for change.

2017 is the second year the HMSA has run this event. Last year saw an Early Day Motion raised by our patron, Norman Lamb (MP). We were astonished at the support from so many MPs and has led to some excellent progress in awareness, not just among the general public and media, but also to services provided at local levels. This year we want to achieve a lot more, and we will need your help!

Each day, Monday to Friday, we will take highlight one condition, starting with Marfan Monday! Our HMSA Marfan Ambassador, Shona Cobb, will start events off publishing her article on our website. We’ll be monitoring discussion and questions using #HMSAware on all our social media platforms, from twitter and insta as well as on our Facebook page, and in our Facebook Members only groups, so to join in, just use the hashtag.  

HMSA School Campaign

Posted By Donna Wicks, October 1, 2015

Many parents, tadalafil teachers and schools have contacted the Hypermobility Syndromes Association with questions about the hypermobility syndromes (also known as Heritable Disorders of Connective Tissue). Questions range from basic concerns for the safety of the student, decease to questions about accommodations that meet the needs of students. At the HMSA we decided to do something to address this need and created the HMSA publication, ‘The hypermobile child – a guide for schools’, an invaluable resource for those with Marfan syndrome, Osteogenesis imperfecta, Ehlers-Danlos syndrome, Joint Hypermobility syndrome and Stickler syndrome.

SCHOOL CAMPAIGN

What is the plan?

The HMSA would like to see every school in the country equipped with a copy of this highly acclaimed, comprehensive, 32 page guide, but we really need your help to make it happen.

As a charity the HMSA receive little outside funding, we are, instead, reliant on donations and membership fees to fund our work. We are already working hard on your behalf, implementing education programmes for schools, colleges and universities around the country and providing support for parents of children in education through our Education Support Group, but, with limited resources, we can only do so much and many children with hypermobility syndromes are still struggling at school every day.

The HMSA is asking for your help to change this, by carrying out one or more of the following:

Option 1: Instead of buying one school guide for your child’s school, please buy two and donate the spare to another school near you. By doing this you will be raising awareness within the education system and helping other children who may be struggling at school – visit our shop at: www.hypermobilityshop.org

Option 2: Make a donation of £5 – by texting ‘HMSA13 5’ to 70070. The money raised will to go towards sending our education team into schools, colleges and universities across the country.

Option 3: Make a donation of £4 – by texting ‘HMSA13 4’ to 70070. The money raised will allow us to donate HMSA school guides to schools with whom our education team are working, ensuring a much needed source of information and advice is held on school records and understood by staff.

Please, help us to make a huge difference to so many children’s lives.

 


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.