EXCERPT FROM THE LATEST NEWSLETTER

Posted by lisa on May 05, 2016 in Uncategorized tagged with

Dear Members and friends,

Firstly, I would like to say a big thank you all for your continued support – without you there would be no Perthes Association and no support network, for the many families whose lives are affected by Perthes disease. It has been a tough year financially, with the number of new cases referred to us still growing and the number of new charities springing up, making the competition for funding even harder for a charity like ours.

However, thanks to some careful housekeeping and the support of our members and friends, we are still keeping our heads above water and have just managed to scrape together the £5000 needed for this year’s office rent.

It goes without saying that the funds we raise for Research cannot be used for anything else and we are delighted to have been able to support several studies over the past few years; not least the BOSS research study launched on April 1st 2016.

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This will eventually mean a better understanding of the behaviour of Perthes, and although things have improved greatly over the years, for me and our original Trustees, this can’t happen soon enough. We have waited almost 30 years (not always patiently) for someone to initiate a Nationwide study.

I remember one at one point when we as a group were becoming increasingly frustrated by the lack of dialog between some consultants, that one of our senior Trustees wanted to lock them all together in a room until they listened to us. Our dream was to get all the paediatric consultants who are treating children with Perthes disease, to actually talk to one another and share their knowledge and experience, to jointly look at treatments and management, and ultimately for the cause which we hope would lead to a cure and finally it’s happening, beginning with this cognitive study!

I know many of you have contributed either by fundraising or donations and you have to know how much that support is appreciated, not just by me but by everyone with an interest in Perthes.

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I’d especially like to thank all those who have written to me regarding our last family get-together, which was a great success. I know quite a few of you have written to Mr. Daniel Perry who kindly gave a marvellous presentation about Perthes disease and about his research. He also took the time to speak individually to a lot of the parents, which was hugely appreciated.

Mr. Perry also invited parents to get involved in his next research program known as the BOSS Study, based at Liverpool University.
In a recent email Mr. Dan Perry wrote “The BOSS study goes live in a few weeks (1st April) and I am getting the final things in place to make it happen. It has been no mean feat, and I am so grateful to you and the wider Perthes’ Association for your support – it really would have struggled to happen without you. “

The aim of the study is to find the best possible way of managing Perthes disease looking at all the current treatments and outcomes right across the country. The study will involve parents and professionals and your input is not only welcomed but very much wanted and appreciated.

Many parents have already expressed an interest in getting involved and I hope that many more will, either by registering individually or through their consultants – don’t forget to ask your consultant if he or she is participating in the BOSS study on Perthes disease! You can register online at http://boss.surgery/patient-registration.html in your browser. You can also email any questions or suggestions to danperry@liv.ac.uk and follow the study on Twitter @theBOSSstudy

At the get-together Mr Perry also spoke about his previous research including his work at Warwick University, where funding provided by Perthes Association enabled the purchase of a Scandinavian twin database.

The idea of buying the database was to discover if Perthes was hereditary –because obviously Identical twins would have 100% genes the same, whilst non identical would only have 50% therefore if there were a higher incidence of Perthes in identical twins than non-identical it would suggest that Perthes disease was genetic.

The database contained medical records of 85,000 twin pairs of these 81 twin pairs were found to have Perthes disease but out of those only 4 twin pairs both had Perthes. This confirms that there is no suggestion that Perthes disease is simply genetic or hereditary.

So what’s the difference? “If it isn’t genetic how come so many members of our family have had Perthes?” Genetic means passed through the genes from parent to child it’s biological and written in your DNA, hereditary patterns can often be found in the genes, but hereditary can also describe what has been passed from one generation to another like the way we speak, we learn languages and dialects from previous generations for example. Although Perthes disease can be a family trait, is not genetic and has no inheritance pattern and therefore is not perceived to be hereditary.

Mr Perry wrote : “The twin study has already got a geneticist interested who described Perthes as a “geneticists dream”. He is interested in something called epigenetics – which concerns how certain genes are “turned on” and “turned off” based on the life course of your parents/grandparents. The genetic make-up is the same – but genes are turned on and off in an inherited pattern. (i.e. If you were starving certain genes would be turned on to help you gather energy, this turned on gene would be passed to your children . If there is a ready availability of food this gene being turned on may then make you fat!). It is becoming increasingly apparent that Perthes is probably epigenetic.”

Updates will be posted on our new website as we receive them. Our new site (but at the same address) is currently under construction.

I’m sorry to say that we are cutting back on Promotional Goods due to poor sales and increased postal charges, therefore many of the smaller items currently in the store, will no longer be available once current stocks run out.

It just isn’t viable to sell items at 50p each when the minimum postage is almost twice that. We will of course continue selling Tee shirts, Mascot Bears, wrist bands, pin badges, car stickers and Teddy bear key rings for the time being. So get your orders in now and don’t forget to check out the “SALE” items in the store.

Several of you asked when the next get-together will be and I am sorry that I cannot yet answer that. We will of course, let you all know via the website, facebook or in the next Newsletter.

Have a lovely summer and keep sending in your photos and stories so that we can increase awareness of Perthes as well as supporting one another.

Best Wishes,

Lisa Grant
Director

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