Website and Blog for the Sam McMahon Trust

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.

Friday November 27th was certainly a night to remember. Organised by Sam’s aunt Karen the evening was a great success. Mark Geary played a number of songs including some old favourites. Sam, who loves music, was delighted to sit beside him. Thanks are due to Mark for giving up time in his busy schedule, to all those who helped out on the night, and to all who contributed so generously to the Sam McMahon Trust. We appreciate your kindness.

The second annual Friedreich’s Ataxia  Symposium was held on 13th and 14th of November. Organised by the Children’s Hospital of Philadelphia 150 people attended. This is double the number that attended the first meeting last December. An informal ‘meet and greet’ took place on Friday evening. People had a chance to catch up with old friends and meet new families. In addition there was a superb wheelchair ballroom dancing demonstration by Dinah and her dance partner Rob.

On Saturday there were presentations dealing with biochemical mechanisms in FA, scoliosis, neurological perspectives, ophthalmological issues and cardiac issues. There was also an update on the research pipeline and clinical trials that are underway. Photographer Rick Guidotti showed photos of children and adults with genetic conditions. He spent the morning taking photos of people with FA and he intends to include these on his website. Richard, Keith, Jennifer and Allison talked about the impact that FA has had on their lives and careers. Kyle Bryant concluded the conference with a review of the hugely successful Philadelphia Ride Ataxia event.

The success of the symposium hinges on the enthusiasm and dedication of Dr David Lynch and his team from the Childrens Hospital. There is no doubt that his willingness to talk to and spend time with families makes the distance to be travelled so worthwhile. The up-to-date information and the chance to meet other families coping with FA means that the annual symposium is an event that can’t be missed!

October 25th saw the first Ride Ataxia event in Philadelphia. With 350 riders over $100,000 was raised for research. Founded by the inspirational Kyle Bryant (who suffers from Friedreich’s Ataxia), the Ride Ataxia team has been raising awareness and much needed money for research since 2007.

This event raised approximately $55,000 online and the Northeast Philadelphia area Outback restaurants raised $41,000. The $100,000 mark was surpassed with the generous support of sponsors such as Outback Steakhouse, Carrabba’s Italian Grill, Bonefish Grill, Hank’s Beverages, Allied Beverage, G&R Mechanical, F&F Mechanical, Faraco Knife and Slicer Co., Santhera Pharmaceuticals, Miller Coors, Heineken, and Dr. Holly Hedrick.

The day started at 7.30a.m with registration where everybody was able to gather and meet before the ride started. The 50 mile riders started at about 8.45a.m and encountered a tough course. The first riders came in at about 11a.m. While the riders were out on the course there were plenty of activities back at the park. The kids enjoyed a bike loop around the park, crafts, face painting, and hay rides by horse drawn buggy.

It’s clear that the ride had a little something for everyone. The course was challenging even for the experienced riders but there were shorter options which helped get everyone involved.

In the end this ride had huge participation from many people who had never heard of FA before and a huge amount of money was raised. Awareness and fundraising are the key ingredients to finding a cure for this rare disease. Well done to all who took part. We wish we could have been part of the event.

In order to explain some of the symptoms of Friedreich’s Ataxia (FA) to his classmates and to help create awareness and understanding of his condition, Sam with some help from his mum Caroline, and Aunt Sandra, gave a presentation to his classmates. The details included are age appropriate and relevant to Sam. It is hoped that this information will help Sam and his friends to deal with the impact that FA has on Sam. See the presentation here.

A Wordle is a toy for generating “word clouds” from text that you provide. Wordles are created by Jonathan Feinberg’s online tool here. In this Wordle we have tried to use several terms associated with Friedreich’s Ataxia. We hope that this will help to educate and raise awareness.

The Health Service Executive (HSE) has reminded everyone at risk of annual influenza this winter to ‘Get the Vaccine, not the Flu!’ The national Annual Flu Vaccination campaign is targeting the usual three key at-risk groups for seasonal influenza -  everyone aged over 65, health care staff and carers, and younger people with long-term illnesses such as asthma, heart problems etc. People who suffer from Friedreich’s Ataxia fall into the third category.  For older people and those who have a chronic illness, flu can cause severe illness and can even be life threatening.

People with either a Medical Card or GP Visit Card will not be charged to visit the doctor for the flu vaccine.  General practitioners may charge a consultation fee to administer the vaccine to patients without a medical card.

For more information people should contact their local GP or the HSE.

Louise Marley’s novel The Glass Harmonica tells two parallel stories. The first begins in 1761 and concerns a young orphan named Eilish Eam, who earns her keep by playing music on water-filled glasses on the streets of one of London’s poorer districts, until she is discovered by Dr. Benjamin Franklin. Impressed with her talent, he offers her a proper place to stay in exchange for her services in developing and playing his own similar invention, which he calls his glass armonica.

The other, which occurs in 2018, follows Erin Rushton, a professional musician whose specialty is an instrument that evolved from Franklin’s original device. Erin’s brother, the composer of much of her repertoire, is undergoing experimental sound therapy so that he can recover some of the mobility that he has lost through the degenerative condition called Friedreich’s Ataxia (FA). As the novel progresses Erin realises that her glass harmonica may provide the key.

The two tales run concurrently in roughly alternating chapters, converging when each character glimpses or feels the ghostly presence of the other.

Although the reader learns very little about Erin’s twin brother Charlie, his frustration with his disability is palpable. It is also somewhat disheartening that in the world of the novel (2018) a cure for FA is still eluding the medical profession. That said the great strides being made in scientific research around the world give us great hope for the future, and anything that raises awareness about the condition is good for the world of FA.