Website and Blog for the Sam McMahon Trust

This month our website is one year old. With posts on clinical trials, symposiums and living with FA we hope that we have raised awareness about and helped people to understand Friedreich’s Ataxia. Fighting to find treatments and a cure for a rare disease is a terribly difficult task. Watching a disease march on and take its toll is soul destroying. But that’s the path we’re on and we will march on.

Thanks for your support. We appreciate the comments and emails so don’t stop.

At present Sam is holding his own. He continues to be a happy contented young man, who knows what makes him happy. He is has decided to grow his hair and so looks a bit like Julius Caesar (according to Margaret Lawless!!) at the moment. He wears his hoodie when it’s hot outside and has said that he will take it off when it’s cold! His goreous smile and his ability to take things in his stride make him a pleasure to be around.

CURE FA!!!

Hosted by the Friedreich’s Ataxia Research Alliance (FARA) and the USF Ataxia Research Centre the second annual Scientific Research Symposium drew scientists, clinicians, experts from across many countries. In the last ten years significant advances have been made in coming to an understanding of the molecular mechanisms of Friedreich’s Ataxia. It is exciting to note that more than a dozen drugs are in the clinical trial pipeline.

For more details on the expert speakers and the and the scientific advancements, and the patients who participated at the symposium, click here.

The 2010 Euro-Ataxia Scientific Meeting will take place from the 1st to the 3rd of October in Cervia, Italy. If you are interested in attending the meeting then click here for the reservation form. Cervia is close to Rimini and is served by nearby airports Rimini and Forli.

Accomodation, full board and conferences cost €220 and reservation forms should be returned by August 27th.

Best wishes and good luck to all of the competitors taking part in the King of Greystones Triathlon tomorrow. We hope that the weeks and months of training pay off! It promises to be a great event. Thanks to all of those people who have volunteered their time to ensure that everything goes smoothly.

A comprehensive article published in Dove Press Journal: Neuropsychiatric Disease and Treatment examines the current and emerging treatment options for the management of  Friedreich’s Ataxia. Many current approaches are reviewed and possible future treatments are documented. The article does conclude that available evidence suggests that those with FA should be treated with Idebenone but that further clincial trials are needed. To read the article click here.

This year the King of Greystones Triathlon takes place on Saturday August 7th.  With a 750m swim, 20km cycle and 5k run you need to need to be reasonably fit to compete. But you don’t  need to have any special training to help out. We need helpers to direct competitors and give out water from 9am til lunch time.

You will receive a King of Greystones T-shirt, a goodie bag, free BBQ and entry to the Koo that evening .

If you can help us out then please contact: Aisling  (Aisling@yourleadbuddy.com) or Shane (Shane_McKenna@dell.com)

As The Sam McMahon Trust will benefit from this year’s event we will be out in force to support the Triathlon. Will we see you there?

The 3rd annual Friedeich’s Ataxia Synposium has been confirmed for Saturday 13th November at the Philadelphia Marriott at the heart of the city. There will be updates on clinical research and trials, information on diabetes, cardiology and neurology and the keynote speaker will be Richard Cohen author of Strong at the Broken Places.

This symposium is a ‘one stop shop’ on all things FA. The very BEST source of up-to-date information (we believe) combined with the opportunity to meet and talk with the medical experts,  families who care for people who have FA and those who live with FA.

For more details about the Symposium and the Philadelphia Marriott click here.

The latest Euro-Ataxia Newsletter is available here. It includes information on the latest research on a number of ataxias, articles on cardiomyopathy and speech problems and news from Eurodis. There is also an article on the the second FA Symposium held last November in Philadelphia. Dr. Mary Kearney is responsible for editing and producing this comprehensive newsletter. Thanks Mary!

This week Sam went to see Dr. David Lynch and his team at the Children’s Hospital in Philadelphia. The FA programme is one of the largest of its kind and caters for in excess of 120 patients. The research programme is working to gain a better understanding of the causes and processes of FA and to find treatments.

Sam underwent some of the ‘regular ataxia tests’ including the 9-Hole Peg Test, Timed 25-Foot Walk and Low-Contrast Letter Acuity Test. We all did cheek swabs to participate in research that aims to measure Frataxin( the crucial protein that’s missing or in low supply in FA patients) in cheek cells. This non-invasive test may help to improve diagnostic and prognostic evaluation in patients and may be useful in evaluating therapies that aim to cure FA by increasing Frataxin levels.

We are deeply grateful to Dr. Lynch and his team at CHOP and to Jennifer Farmer and all at FARA, for their dedication to and interest in patients with FA. We plan to return to Philadelphia in the future to continue to participate in this programme.

Happy Father’s Day to all of the Dads touched by FA. They carry a heavy burden but they do so with grace, humour and a determination to find a cure for FA. Enjoy the day doing whatever you enjoy doing most.

Get a rest because we will need you to be strong for the rest of the year!

To my own Dad, thanks for giving me the strength and stubbornness to be able to fight for all that Sam needs, and to Brian, Sam’s Dad, don’t change, we think you’re GREAT!!