AllTrials campaign have asked us to share the following news:
Yesterday the European Medicines Agency (EMA) agreed to scrap the restrictions on sharing data with clinical researchers. Thousands urged the EMA against secrecy by writing letters and sharing the AllTrials Twitpic. They listened.
As Dr Ben Goldacre said, “The EMA only holds clinical study reports for a small proportion of all the trials done on all the medicines we use today. We need a radical overhaul giving retrospective transparency on all clinical study reports from industry, and clear transparency on methods and results for all trials done by academics.”
When we get involved things change. Please help get more people involved in the campaign to keep this momentum up, share/follow news on Twitter using #AllTrials and on Facebook. Ask 5 people to sign the AllTrials petition and donate to the campaign if they can: http://www.alltrials.net/news/european-medicines-agency-votes-on-clinical-trial-transparency-today/
Take a selfie, join the campaign!
Supported by Pain UK, Fibromyalgia Association UK and the Hypermobility Syndromes Association.
Be part of our effort to fight the pain all over the world and to help sufferers. All you need to do is take a selfie!
ISAL Foundation (Italian Pain Foundation) are collecting as many selfies as possible from all over the world. They will give us power and strength to engage with national and international institutions and stakeholders to fight pain. It’s very easy to take part, just follow the instructions and examples below:
1) Take a picture of yourself holding a piece of paper with “I’m against Pain”
Join us, we need your selfie!
One of our Group Leaders, Mel Howram, has sent in her family’s story about finding out they have Hypermobility Syndrome, in particular her youngest child, Charlie, and their journey to diagnosis and beyond. As part of Jeans for Genes we would also like to share Charlie’s story with you.
I am Melanie, I am 36 years old, I am Mum to Charlie 7 as well as a daughter 17 and an older son 15. They, my husband and I all have Hypermobility Syndrome, something we never knew and probably would have never known if it wasn’t for Charlie.
Charlie was born a happy healthy baby. A family history of developmental hip dysplasia saw Charlie rigorously tested at birth. With results all clear we were very pleased and everything else went well until Charlie was around 6 months old. At this time when I sat him on my hip and I could hear the tell-tale clunk of hip dysplasia. Charlie was sent for Xrays and the hip problems were confirmed it was popping in and out, but it was decided to take no further action. The next thing that was a concern to me was the time it was taking Charlie to walk, 12 months came and went then 13, 14, 15 and so on. It wasn’t that Charlie couldn’t walk, we knew he could take steps independently, he just chose not to. At the time I put it down to the fact that he had two much older siblings and that they were carrying him therefore slowing down his progress.
Sometime between 17 and 18 months Charlie began to walk independently. By the time Charlie was two problems began. He would often refuse to walk and my husband would end up carrying him. He would also wake at night in pain. We put this down to what most people referred to as growing pains, and got on with things.
It was shortly before Charlie turned four that he spent some time with his Grandma on the beach. She noticed his feet and ankles weren’t right and was very concerned about it. His feet were most definitely flat. But so were my husbands and my other sons, it wasn’t out of character for our family so we hadn’t picked up on it. But mum’s concern prompted us to visit our GP and a referral was made to an orthotist. Our appointment came and what a fabulous man, he was wonderful with Charlie and straight away he knew the problem. Charlie was very flat footed and had ankle valgus, this meant his ankle had kind of fallen over and it wasn’t inline with his leg. This was the very first time in my life I heard the word hypermobile and had we had a different orthotist I’m not sure we would have ever heard the word or certainly not for some time. We left the appointment with custom made insoles and special supportive boots on order.
I knew then that Hypermobility was a word that I needed to investigate further and get the knowledge I needed to understand the problems Charlie was having. Thank the world for the internet as I wouldn’t have known where to begin with my quest for knowledge had it been several years ago. Google led me to the website and further still the forums of The Hypermobility Syndromes Association. It was here that the many jigsaw pieces of not only Charlie’s life but also my life fell into place. It was all there, almost every symptom and characteristic met with how Charlie was. I am a strong believer in every aspect of my life that knowledge is vital for understanding. So I immediately signed up to the HMSA forums and connected with other sufferers and parents and my journey along a steep learning curve began.
From here everything became a whirlwind. From a visit to our GP came a paediatrician, physio, occupational therapy and a wheelchair assessment. Physio confirmed the diagnosis, Charlie was extremely hypermobile and an intensive course of physiotherapy began. As things sank in we realised how much our lives had changed. Our regular days out had stopped because Charlie just couldn’t walk or keep up and had long since outgrown his buggy. Nights were broken and tears and pain were frequent.
Despite all the interventions Charlie just wasn’t getting better, he was going downhill fast. Everyone I spoke to from a health point of view, apart from our orthotist, would tell me that hypermobility is very common in small children and that he would ‘tighten up’ as he got older. But I wasn’t convinced; Mums just know that something is more than a flash in the pan. Plus our orthotist told us from day one that his work would by no means be a quick fix, we were looking at a life long treatment and management plan. This and his support along with my new found support at HMSA pushed me on in my research.
As my learning continued I realised that not only Charlie was hypermobile our whole family was, all 5 of us. The things that Charlie did we all did. Then came the big question, if I hadn’t tightened up at 34 and my husband at 38 daughter at 17 and son at 15, what led these professionals to presume that Charlie would tighten up when he was the worst affected of us all? It was the confidence in my knowledge from HMSA that allowed me to question my paediatrician, I actually reached a point that I felt my knowledge of hypermobility was greater than his. I knew that the best way forward for Charlie was a formal check for Ehlers Danlos Syndrome at Sheffield Children’s Hospital as soon as possible. I felt this way because I knew that the key to quality of management laid with the treatment and knowledge that Charlie himself needed to be able to manage his own condition.
At our next appointment I asked for the referral. Our paediatrician was not keen I had to argue our case. At 4 years old he wanted to wait to around 11 years. I explained my feelings, presented a good case of the earlier the better and walked out with what I wanted despite the paediatrician clearly not wanting to send him. But as a parent I was victorious and I knew this was what was needed and was best for Charlie.
The December after Charlie’s 4th birthday we saw Dr Sobey in Sheffield. Vindication came! Charlie had EDS type 3, and my husband and I were diagnosed in the same appointment. Genetically I am told it is very rare to have both parents affected. Normally it would pass down one side of the family only. Not only would Charlie have a contact with a geneticist throughout his life, so would our whole family. So far a gene hasn’t been identified that can diagnose hypermobility but research is ongoing and with 5 of us affected we could be used in future in the quest for finding this illusive gene.
After this appointment began what for loss of a better description I can only describe as a grieving process. Our child wouldn’t have the life that we had envisaged for him, things from here would be very, very different and Charlie was going to have a journey and a steep learning curve of his own. However, through my knowledge I secured a path to the best possible care for Charlie and we now have a multi-disciplinary team caring for Charlie at every level. We have been very lucky with his care, but sadly Charlie continues to plateau and then deteriorate further.
At 7 we are facing many challenges, Charlie has developed further problems. He has marked lumbar lordosis and suffers regular subluxations. The lumbar lordosis makes finding clothes to fit very difficult and I have become a master of length alterations. He also has chronic amplification syndrome which has meant starting Charlie on off licence medication. This is a constant worry and some of the side effects are unpleasant, but we forge on because it is in Charlie’s best interests. Charlie also has high pain and fatigue levels and at worst these cause utter meltdowns and he becomes very angry and physically aggressive at times. However he has a psychologist working with him within his time to help this and he is already learning about managing the boom bust cycle, something that he will need the rest of his life.
Through Charlie’s diagnosis I am also getting the care that I need as I am affected badly too but could never put the pieces of the jigsaw together before that point. It has also resonated down through the family and things make sense to extended family and again their care is also improved now. Had I not pushed forward for referral to genetics who knows how things would be now or how much suffering Charlie would have experienced.
I know that the future will be tricky for Charlie but not impossible. We stay positive and focus on good things and the fact that everyone has something they can be good at no matter what. We take a day at a time and these days I feel empowered and i am happy to challenge our specialists if I have confidence in what I feel we need. Knowledge was the step, the key was the HMSA and the door it opened was genetics to a new pathway for Charlie’s future.
Many thanks to Merissa Paskin for sending in this lovely feedback about one of our Family Awareness Days, and thank you again to Jeans4Genes for funding our most recent Family Day in Kent
I attended the family fun with my 5 year old son who was recently diagnosed with Joint Hypermobility syndrome in the February but we didn’t really know much about his condition. Hypermobility had been mentioned when he was younger but we were always told he would grow out of it. I went to the day not really knowing what to expect but wanted to help my son understand that he is isn’t the only one with this condition and that there are other children like him, as he can feel very isolated at school and gets frustrated that he can’t keep up with his peers. I knew there would be workshops but I also wanted to learn more about the condition and meet others in the same situation as ourselves.
We weren’t disappointed! The day gave me information about my son’s condition and gave me the opportunity to ask questions and help me feel equipped and more knowledgeable about his needs, and helped me question and look at my son’s condition long term. It made me feel more in control rather than relying/trusting on the medical professionals involved, and it made me think about alternative ways to help my son’s condition. It also made me realise the importance of the things we have to incorporate into daily life i.e. physio and how to help my son recognise the importance of the things we do for the long term management of his condition, how we need to pace ourselves over the course of the day.
The workshop I found most helpful was about school as it not only made me feel more equipped and ready to take on the current schooling situation and iron out our current problems but it also made me realise the things that need to be in place now to help my son but also start thinking about his schooling and his changing needs as he goes through his school. In particular it made me feel more knowledgeable and empowered to be able to challenge the school on decisions regarding my son and also to pursue things that should be in place for him like a medical care plan so everyone is working in the same way. The questions and answers at the end of the day was good as well as it gave me an opportunity to ask any unanswered questions. My son had the opportunity to mix with other children of his age while I attended workshops and he had great fun as well.
Another part of the day was to meet with a researcher from a Scottish university and this was fantastic as she used pain sheets that he could colour in to be able to communicate where he feels pain daily. This was quite upsetting for me as a parent as it actually highlighted how much pain he experiences daily but also gave me a clearer understanding of where he feels pain that he cannot necessarily communicate where the pain is. The pain sheet for us has been a very valuable tool as this is something we have used and put in place since the day at school and in home life when he is in pain but unable to communicate where. We turn to the pain sheet as it helps me realise where we need to focus attention on, this has really helped in school and at home life and understanding what is going on for him. We also looked at alternative pain management which has helped me put together a box a tricks at home and school for when days are bad.
Also from the day we got to meet some lovely people, some of whom we have kept in touch with so there is always support there when days are tough, along with the HMSA at the end of the phone or email so we can get through the bad days. We ended the day very tired after a lovely swim in the pool at the venue.
To find out when our next Family Days are please visit the Events page
Have you used JustTextGiving? To help us continue our work in supporting children and their families please consider donating to our JustTextGiving facility.
Simply text: HMSA00 (zero zero) followed by the amount you wish to donate, to 70070. For example, HMSA00 £2
Any amount is appreciated in our fight to provide better services, earlier diagnosis and management in this complex, multi-systemic condition. Thank you