Website and Blog for the Sam McMahon Trust

As 2011 draws to a close and 2012 is only hours way, we look back on what has been a very busy year for us.

There were many high points including our visit to see Dr Lynch at CHOP, in Philadelphia at Easter, the Mum’s Lunch which took place in June, the King of Greystones Triathlon in August and the overwhelming response to the Christmas cards sold in aid of FARA Ireland.

On a personal note much of our energy this year was spent on making plans for the future. Sam now has an accessible bedroom and bathroom downstairs. The upheaval of the building work meant that we could not hold the Open Garden event, however plans are under way for the 2012 opening and we expect to confirm a date in June in the coming weeks.

We appreciate the kindness and dedication of those who continue to support the Sam McMahon Trust, those who undertake fundraising, the Mini Marathon, the Dublin City Marathon, those who give their time and enery to  help us, those special people who work behind the scenes and say nothing. To our families and friends who are there to support us along the road that we wish we didn’t have to travel. We thank each and every one of you!

We are looking forward to 2012 and to meeting with you along the way.

Finding a cardiologist who specialises in Friedreich’s Ataxia is a challenge. There has been very little research done in the field of FA heart and the associated cardiomyopathy.  However  Dr Mark Payne from Riley Hospital in Indianapolis has recently published an article entitled The Heart in Friedreich’s Ataxia: Basic Findings and Clinical Implications.

In this review Dr Payne focuses on the basic findings of the disease and the cardiomyopathy that is associated with it. As well as looking at the genetics and background to the disease, the author also considers treatments and future therapeutic directions. Dr Payne also emphasises the need for clinical trials and studies in this field.

To read the article click here.

The National Ataxia Foundation (NAF) annual meeting took place recently in Los Angeles. If, like us you, were not able to travel to the US for the meeting, you can view the powerpoint presentations here. These include presentations from world-leading ataxia scientists and experts in the various fields associated with ataxia.

Plans are underway for the 2012 conference due to be held in San Antonio, Texas on March 15-18 2012.

Scientists in Australia have developed adult induced pluripotent stem cells (iPS) using skin biopsies from patients with Friedreich’s Ataxia.

Dr Alice Pebay and Dr Mirella Dottori co leaders of the study from the University of Melbourne, characterised and directed the iPS cells to becomes specific cell types, including heart cells and nerves, which do not funtion normally in patients with FA.

It is hoped that this discovery will lead to new trial treatments for Friedreich’s Ataxia and other diseases.

The current issue of the Muscular Dystrophy Association’s (MDA) Quest Magazine includes an interesting and informative article on Friedreich’s Ataxia.

As well as including facts about FA there is an update on current research. This is followed by interview with neurologist  Susan Perlman, a specialist in the field of FA over the last 30 years and cardiologist  Mark Payne. There are also useful contributions by Physical therapist Melina Guttry and Speech-Language Pathologist Anne Wallace.

The article concludes with four profiles of people living with FA. To read the article click here.

The Friedreich’s Ataxia Research Alliance (FARA) have just published their updated research pipeline and it makes for great reading. The graph communicates the progress of research. FARA supports the advancements of these treatments. They firmly believe that there is merit in each of the approaches and that a treatment will come in the combination of a number of therapies. To see the graph click here.

An early Christmas present!

We are thrilled and delighted that over the past year, with your help, we raised $10,000 for the Friedreich’s Ataxia Research Alliance (FARA).  This means that in two years we have raised $20,000!

A cheque was presented to the director and founder of FARA, Ron Bartek at the 3rd Annual Friedreich’s Ataxia Symposium in Philadelphia. All of these funds are used to support and fund research projects that we hope will lead to treatments for Friedreich’s Ataxia.

We would like to thank YOU for your support, kindness and generosity. We have some new ideas to help with the fundraising for 2011 so keep an eye on the site. We would like to think that we could achieve this figure for a third time…

The third annual Friedreich’s Ataxia Symposium took place last weekend in Philadelphia. With approximately 250 in attendence this was the largest gathering to date.

The Meet and Greet session on Friday evening gave people the chance to get together and to discuss their thoughts and experiences. Kyle Bryant and his Race Across America team mates shared their memories of the eight day, seven hour and fifty nine second race. The team were followed by a film crew and over the coming months the footage will be edited and a documentary will result.

Saturday began with an early start at 7.30. There were presentations on Biochemical Mechanisms and Therapeutic Pathways, Financial Planning and Personal Care Assistants. The keynote lecture was given by Richard Cohen, author of Strong of the Broken Places.

Over the coming days we will post important, up-to-date information that we learned about managing FA.

Patients with Friedreich’s Ataxia often require spinal fusion surgery as a result of severe scoliosis. Sometimes these patients do not do well during and after this surgery as their hearts are weak. At present it is impossible to predict who will have heart problems  but a new study may help to shed light on this in the future.

Dr Mark Payne is conducting a study into this but he needs your help. He is looking for the medical records of patients undergoing spinal fusion surgery before, during and after surgery.This study includes patients who have done well and those who have not and may have died after surgery.

For more details about the study, medical records that are required and information on how to contact Dr Mark Payne then click here.

European Project for Rare Diseases National Plans Development (EUROPLAN) will hold a conference in Dublin on December 3rd. EUROPLAN are working to develop strategies and plans for rare diseases in all European states by 2013. National authorities, health care planners and researchers and patients are welcome to attend.

For further information about the workshops that will be held on the day or to make a booking, click here.