HME Database

The aim of the HMESG UK HME Database is to provide answers to important questions about the rare condition (1 in 50,000) that have not been answered so far by experts or literature. 

This will be achieved by the collection of information directly from HME sufferers (anonymity will be kept).  A natural history for each sufferer will be developed providing a wealth of data for future analysis. 

This is vital to the future of HME sufferers.  As far as we know, there has never been any such collection of information.  Little is known about the condition and information for medical professionals is sparse and often inaccurate and out-of-date. 

With the support of an appointed National Clinical Advisory Board and Information Technology design and maintenance from the University of Edinburgh it is anticipated that the HME Database will offer a unique opportunity for sufferers and researchers alike.

Funding is required for the entire project which will last for many years.  This is a very exciting venture for the HMESG and its members.

Planning for this project is taking place now!

If you would like more information please contact Helen Small, Research Development Trustee  – helen.small@ox1.co.uk

Would you like to take part in UK HME research?

 

Every so often we get to hear about research projects and would like to let you know about them so that you can take part if you choose.  If you would like to be on our new research register, please complete the enclosed form.  The information will be kept confidentially by the HMESG and used solely to send such details on behalf of researchers.  I will be co-ordinating this register and look forward to hearing from you!! 

Talking of researchers, recently I met with Mr Daniel Porter, the Orthopaedic Surgeon who is collaborating with us on the HME Dabatase Project, and learnt that he has the most productive clinical research output in HME of any researcher worldwide. 

We are so fortunate to have had Daniel’s support in the Group since its inception and to be working with him on the future project of the Database.  It is hoped that the Database will be embraced by sufferers of HME as a place where they can store an accurate record of their medical history while providing important information about the condition and its effect on daily living.

You can find a list of Mr Porter’s publications on our website (click here) for your information and if you go to http://ukpmc.ac.uk/ and enter the title of any particular paper, you can usually read it in its entirety, or at least a summary.  Please note that these are scientific papers and not in layman’s terms, but can still prove interesting reading.

Click here to downlad the research register form.

 

Preimplantation Genetic Diagnosis for Hereditary Multiple Exostoses

Preimplantation Genetic Diagnosis (PGD) is a treatment which is available to help people who do not want to pass on an inherited condition to their children. Basically, in-vitro fertilisation (IVF) is used to produce embryos in a laboratory. When the embryos are made up of only a few cells, usually eight, a cell is extracted and a DNA test is performed to check for the genetic condition of interest. Only embryos which do not have the condition are implanted into the mother. The removal of one cell does not appear to damage the rest of the embryo. 

I have Hereditary Multiple Exostoses (HME) and, as people in HMESG will be aware, I have a 50:50 chance of passing it on. For many years I worried about having children because of this risk. One of the benefit’s on my first pregnancy not being planned was avoiding the guilt of making a conscious choice to become pregnant! My first child does have an exostosis, but he has been DNA tested twice and he appears not to have HME. Apparently, a one-off exostosis is not uncommon; it is not an inherited condition and it is not understood why they occur. It is just an incredibly rare event that a parent should have HME and the child have an exostosis which was not inherited!

The exostosis on my son’s leg has caused us concern over the years. However, now that he is nearly ten, it is moving away from the growth plate and we are hopeful that it will not now affect the growth of his leg or cause any other major problems.

When it came to having my second child, we sought genetic counselling and found out about PGD. Unfortunately, it was not available for HME eight years ago. Since, I was heading up to forty, we didn’t have time to wait for PGD to become available, so we went ahead anyway, leaving things to chance. My second child has been DNA tested and she doesn’t appear to have HME or any exostoses.

We joined HMESG five years ago when my son was four, soon after he developed his exostosis. I have had some mobility problems with HME over the years. However, from joining the group, I realised there are many people with HME who have been affected far more seriously than me.

My husband and I run an educational software company called Illumination Educational Software. My experience of having a genetic condition influenced our choice to make software on genetics. We have recently launched an online site on genetics called Gene Journey. Probably, because we remember how much we wanted PGD for us, when my husband and I developed the site, we were keen to incorporate PGD. We met Natalie Glascott-Tull five years ago at the first HMESG meeting we attended.  I interviewed her for the site; she is going to have PGD for HME and, like us, she also keen to spread awareness about PGD. Although the site is aimed at educational and health institutions and is subscription based, we offer a 21 day free trial to anyone. If you would like a free trial, or you have any other queries, just email me at: tina@illumination-ed.co.uk or go to the ‘Try or Buy’ page of our website www.illumination-ed.co.uk

I am a member of the Consultative Panel of the Human Genetics Commission and at the last meeting I put forward the case that PGD should be available for HME on the NHS in this country.  Christine Patch is the Genetics Counsellor Manager at Guy’s and St Thomas’ NHS Foundation Trust, as well as being a member of the Human Genetics Commission. This hospital is one of the main centres for PGD in this country. In response to my questions, she spoke about PGD for HME. She said that if members of HMESG came forward requesting PGD then HME could become one of the conditions for which PGD is available on the NHS in the UK. She said we can influence things; the NHS is responsive to demand.

Tina Read