Website and Blog for the Sam McMahon Trust

February 28th 2010 marks Rare Disease Day in Ireland. The main objective of the day is to raise awareness with policy makers and the public of rare diseases and the impact that they have on patients’ lives.The Genetic and Rare Disorders Organisation are celebrating this day in the Mansion House in Dublin from 11am to 1pm. Families and those interested in hearing about the supports available to those who have rare diseases in Ireland are welcome, and  children who come along with parents, will be able to attend music workshops and have face-painting done.

There will be over 20 organisations present to provide  information on support and incentives that are underway on the national and international stage. The event will be hosted by the Lord Mayor of Dublin Councillor Eibhlin Byrne.

With tickets released only two weeks ago we have been blown away by the fact that today they are all sold out! Huge thanks to all of those who have bought tickets and donated prizes for the raffle. It promises to be a great night out.

Even Sam is brushing up his cookery skills. Watch out Neven!

Check out the Friedreich’s Ataxia Research Alliance (FARA) updated list of resources for patients and families here. There is a video which provides an introduction to Friedreich’s Ataxia and the work of FARA. All of the presentations from the Friedreich’s Ataxia Symposium ’09 are included. Also available is an  inspiring video of Donovan Simpson, age 13 who suffers from Friedreich’s Ataxia as he takes on the challenge of adaptive skiing this year.

If you weren’t in a position to attend the second Friedreich’s Ataxia Symposium in Philadelphia last November or if you would like to refresh your memory, then the videos of the different presentations are now available at the Children’s Hospital of Philadelphia (CHOP) website. Click here to view the videos.

The Sam McMahon Trust and Friedreich’s Ataxia Research Alliance are to benefit from a cookery demonstration by award-winning chef and restaurateur Neven Maguire in the D4 Berkeley Hotel on 8^th March 2010.

Following a drinks reception at 7pm, Neven will demonstrate how to cook some great recipes taken from his new culinary guide and cookbook, “Home Chef”, at 8pm.

Determined to raise the standards of home cooking, Neven Maguire will demonstrate how to transfer his expertise from the restaurant to the domestic kitchen, offering expert advice to both the novice and experienced cook.

The event is sponsored by Menupages.ie and D4hotels.ie.

Tickets, which would make an ideal Valentines gift for a foodie, are priced at just €25 each, and if ordered before 7^th February, delivery is guaranteed in time for the big day!

Tickets are available from www.menupages.ie/sam

As regular followers of this site know, Mark Geary took time out of his busy schedule to play for Sam at the end of November 2009.  The night was a great success and valuable funds were raised for the Sam McMahon Trust and the Friedreich’s Ataxia Research Alliance (FARA). To read the review and to see photos from the night click here.

Ataxia UK have recently updated their Clinical Guidelines for Best Practice for healthcare professionals on the diagnosis and management of progressive ataxias. Although some of the details are, at times, technical and not all of the information relates to Friedreich’s Ataxia, there is no doubt that the Guidelines provide us with a huge amount of up-to-date information that can be printed off and brought to healthcare professionals.The Guidelines include details about diagnosis, medical interventions, disease modifying treatments, therapies and research. Read the Guidelines here.

A recent study by Ilg et al examined the effectiveness of a 4-week intensive coordinative training for 16 patients with progressive ataxia (4 participants had Friedreich’s Ataxia). Significant improvements in motor performance and a reduction of ataxia symptoms were observed in clinical scores after training and were sustained at follow-up assessment.

The study concludes that ‘coordinative training improves motor performance and reduces ataxia symptoms, enabling them to achieve personally meaningful goals in everyday life‘ . It recommends that this intensive training should become standard of care.

For details about the physiotherapeutic exercises that were used in this study click here.

The Sam McMahon Trust has organised a number of fund raising events throughout 2009. The monies raised are used for Sam’s medical needs and for the Friedreich’s Ataxia Research Alliance (FARA). We were delighted to present FARA with a cheque for $10,000 at the Friedreich’s Ataxia Symposium in Philadelphia  on November 14th. Read their acknowledgement letter here.

Ron Bartek, President and founding member of FARA reminds us that

“Acting alone, there is very little any of us can accomplish. Acting together, there is very little we will NOT accomplish!”

Thank you to all of those who helped out at the events or contributed to the fund. We look forward to another successful year in 2010. Check out our events page for details of Neven Maguire’s Cookery demonstration next March.

Strong at the Broken Places by Richard M. Cohen is the remarkable story of five ordinary people trapped in the difficult and challenging world of serious chronic illness. Cohen spent three years chronicling the lives of five diverse ‘citizens of sickness’: Denise, who suffers from ALS; Buzz, whose Christian faith helps him deal with his non-Hodgkin’s lymphoma; Sarah, a determined young woman with Crohn’s disease; Ben, a college student with muscular dystrophy; and Larry, whose bipolar disorder is hidden within. The five are different in age and gender, race and economic status, but they are determined to live life on their own terms. Cohen formed intense relationships with each; he talked to their families and friends, and shared joy, even in heart-breaking setbacks. Though each individual’s illness wreaks havoc in a different way, Cohen shows how their experiences are strikingly similar and offer us lessons on self-determination, on courage in the face of adversity and public ignorance, on keeping hope alive, and on finding strength and peace under the most difficult of circumstances. We are strong at the broken places, stronger than we think. In sharing these inspirational and revealing stories, Cohen and his fellow warriors against illness offer a chorus of hope.

Richard M. Cohen was due to address the Friedreich’s Ataxia Symposium in Philadelphia last November but was unable to do so as he was unwell. Having read this book in preparation for the symposium it’s worth noting that although this is a challenging and tough book to read, it offers an insight into the world of chronic illness and the determination of those who carry on despite everything.