Where Your Money Has Gone

The Year 2010 - 2011

Update on reaserch projects funded by The Lily Foundation November 2011

Through funding research, The Lily Foundation aims to improve diagnosis and treatment of Mitochondrial Disease. Many parents are having to wait months and sometimes years before their child is diagnosed and even in the cases where a diagnosis is made, treatment options that may stabilise the condition and improve quality of life are limited, and not always effective.

What we have achieved so far:

Four years ago we started funding a diagnostic project at Guys and St Thomas's and the Evelina Children's hospital which involved designing a chip technology to increase the speed and accuracy with which genetic diagnosis could be made for nuclear mitochondrial DNA disease.

The technology that our group developed, has reaped benefits far wider than mitochondrial disease itself, and we have been informed by the research team that the technique has actually revolutionised gene testing in many other areas of medicine as wide ranging as liver disease, inherited heart disease and nerve conditions. For these illnesses (and many others,) the Lily chip technology is being provided as a national diagnostic service which is available around the country and we are thrilled to have been responsible for being able to contribute such an important technique as a bi-product of our original work.

We also sponsor a family room at the Evelina Family Trust, which accommodates families who want to stay near their children while they are in hospital. We know how important it is that families can be kept together whilst their child is in hospital for long periods of time.

We have recently been able to offer short breaks to Centre Parks for families with affected children. Spending time together when your child's life is limited is very important and makes memories that last forever.

The Future

The Lily Foundation continues to support our original work with Guys and St Thomas's and the Evelina Children's hospital which continues to strive to find the most effective way of diagnosing nuclear mitochondrial DNA disease. Our ongoing support provides the group with the equipment and specialised staff they need to develop the best diagnostic techniques. As soon as these techniques are established as reliable they will be moved into NHS service and be available for all mitochondrial patients in the UK.

We have recently agreed to support a 3 tiered project from Newcastle University which involves increasing patient access to information, developing techniques to reduce transmission through pre-implantation genetic diagnosis and improving diagnosis of mitochondrial DNA disease which complements the work being done at Guys & St Thomas's.

We have also been able to provide a grant to the research team at Great Ormond Street Children's Hospital (in conjunction with the Institute of Child Health) to enable them to purchase essential equipment which will improve the speed and efficiency of a number of projects they are working on to identify novel treatment strategies for mitochondrial disease, and we hope to support more of their projects over the coming years.

March 2011

The charity is gaining pace faster than we could ever imagined. At our annual ball in March 2011 we were able to present two cheques totalling £100,000 to Dr Mike Champion and his research team at The Evelina Childrens' Hospital and the genetics team at Guys and St Thomas'.

And this is where our money is going:

Update on where our gene chip technology is today (Dec 2010)

Our chip technology has now been fully tested on a batch of test samples where the diagnosis was already known, to ensure that it gave the correct answers.

Amazingly, these validation samples showed that the technology managed to identify the faulty gene with 100% accuracy.

These results are incredible and have enabled the research to move forward much faster than first anticipated.

What this means:

We are now ready to test children with mitochondrial disorders in whom we suspect involvement of nuclear genes and from whom we do not as yet have a genetic diagnosis.

Our doctors can work with confidence knowing that the chip technology will be able to accurately diagnose many children affected by mitochondrial disease who would never previously have been diagnosed.

Many of these children and their parents will have waited years for a diagnosis and will have lost hope of ever finding the answers.

The first stage of nationwide testing on children with mitochondrial disorders of unknown origin will hopefully begin in Spring 2011 if all the initial experiments on the new chip work well.

This will offer families the chance of a firm diagnosis, and for many the option of an accurate test in a future pregnancy.

How can I get my child tested?

At present genetic testing for mitochondrial disorders is offered by London, Oxford and Newcastle. Your doctor will send the sample to one of these laboratories. They work closely with each other and the lab supported by The Lily Foundation. If initial testing for your child does not give the genetic answer, then your child’s sample can be forwarded for further testing to this lab.

Once we are certain the technique works efficiently for the mitochondrial disorders, it will be quicker to get your child tested in the future.

It is our aim to make this technology available to mitochondrial patients nationwide.

What happens next?

Within the field of research, nothing ever stands still.

Whilst the first round of testing in Spring 2011 will start with the1st generation chip, our scientists are already applying what they have learnt and are working on a 2nd generation chip which will be even wider reaching and able to identify more of the rarest defects – many of which could not be previously diagnosed .

Even though we have achieved huge success, the technology does not stop here.

It will constantly evolve and the hope is that we are able to identify other as yet unknown genes causing mitochondrial disorders. The testing will then be modified so that new disease causing genes (that have been identified as a result of this technology) can be included in the next generation testing very quickly and at a much more reasonable cost.

Afterword

The medical team would like to acknowledge that the above technology was tested in the prototype condition, glycogen storage disorders (GSD’s).

This test work has contributed enormously to the understanding of GSD’s and the medical team would like to extend their thanks to the Lily Foundation for making this advance possible.

Accommodation for famiies with children in hospital

We are very proud to be sponsoring a family room at the Evelina Family Trust, which accommodates families who want to stay near their children while they are in hospital. Families get the benefit of staying together in a comfortable family room with the use of self-catering kitchens, sitting rooms, laundry facilities, playroom and a peaceful garden. When faced with your worst nighmare of a very sick child, you don't expect to have to worry about being with that child, these houses relieve families of that burden.

Dan Maiden presented The Ronald McDonald House Oxford with a cheque for £2500 in October this year, following his cycling challenge from Landsend to John O'Groats. Dan and Susie and their family benefitted from the services offered by The Ronald McDonald House when their daughter Florence was diagnosed with Mitochondrial Disease in September 2008.

The Year 2009-2010

The year 2010 has been a very exciting year for The Lily Foundation. We are continuing to grow despite very difficult financial circumstances, we continue to provide support for families affected by Mitochondrial Disease and we are a charity which enables families to raise money for the search for a cure of Mitochondrial Disease. It has also been a very exciting year in terms of research.

The Gene Testing Programme

Testing of the mitochondrial genes is currently a very long and expensive process. With potentially hundreds and maybe thousands of genes to test, each gene takes between 8-12 weeks to be tested and costs hundreds of pounds.The gene testing programme will enable doctors to test ALL the known mitochondrial genes in one laboratory within one month, for up to eight patients at a time for the cost of £8000.  Once it is up and running the programme will have the potential to test hundreds of patients in one run at no extra cost.

This is how it works:

It is the first of its kind world wide. Samples will come from all over the world to use the technology. Doctors are currently running tests on the technology and hope to be testing the mitochondrial genes by the end of 2010.

The Lily Foundation were very proud to be able to hand over a further cheque of £70,000 at our 3rd Annual Ball in March 2010 to Dr Mike Champion,Pediatric Metabolic Consultant at the Evelina Children's Hospital.

We have donated £173,000 to date.

The Year 2008 - 2009

The Lily Foundation is proud to announce that it has now raised £100,000 for Guy's and St Thomas' hospital's to help the battle against Mitochondrial Disease. Lily's mum and dad Liz and Dave handed over a cheque for £43,000 to Dr Mike Champion, Consultant in Pediatric Metabolic Medicine at the Evelina Children's Hospital, Guys and St Thomas' Hospital's at the 2nd Annual Lily Foundation Ball  on March 7th at the Riverbank Park Plaza just a few hundred yards from where Lily received such kind care at the Evelina Unit.

November 2008

This is in addition to the £57,000 handed over in November 2008. Lily's parents Liz and Dave and Lily's uncle Jonathan Pearce presented Dr Mike Champion a cheque at the Evelina Childrens' Hospital.

Alongside this a cheque for £3000 was presented to Sue Bennett from The Ronald MacDonald Trust, which will sponsor a family room for a year, paying for the costs of the up keep.

We could not have managed this without your help. The money raised has already resulted in the creation of the first hi-tech microchip to be used in a new gene testing unit at Guys and St Thomas'. This will speed up the detection of the defective mitochondrial gene and hopefully, one day, lead to the cure of the Disease

Once again, thanks so much for your help