Website and Blog for the Sam McMahon Trust

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.

Ataxia awareness day is held on 25 September every year. Ataxia is a rare progressive disorder of the nervous system that affects balance, coordination and speech. As the condition progresses sight, hearing and the heart can be affected. Ataxia can strike at any time regardless of age, gender or race. There is no treatment or cure for ataxia.

The aim of the day is to raise awareness about ataxia. Can you participate in an activity that creates awareness? Can you share your experience with others who have not heard about ataxia?  Can you raise financial support? Can you help others to have a better understanding of ataxia?

Are you doing something to mark International Awareness Day? We would love to hear about your ideas and plans. Contact us and let us know.

The Children’s Hospital of Philadelphia recently announced the dates for its forthcoming Friedreich’s Ataxia Symposium. Of immense value to patients and families, the symposium will provide people with up-to-date clinical information, therapeutic approaches and current research being conducted in the field of Friedreich’s Ataxia. The symposium will take place on November 13 and 14.

Further information can be obtained from the Continuing Medical Education Department at the Children’s Hospital of Philadelphia at (215) 590 5263.

The first Ride Ataxia event on the East Coast of the USA takes place in Philadelphia on October 25th 2009. Activities include 10, 25 and 50 mile routes on scenic country roads.

Founded by Kyle Bryant, who suffers from Friedreich’s Ataxia, the Ride Ataxia team has travelled 3300 miles over the past three years. They have raised awareness about Friedreich’s Ataxia and $700,000 in research funds.

Supported by Outback Steakhouse, the event will benefit the Friedreich’s Ataxia Research Alliance (FARA) and the Children’s Hospital of Philadelphia (CHOP) Friedreich’s Ataxia Programme. Both are non-profit organisations dedicated to research and working to find a cure for FA.

For those who can’t sign up to take part in the event donations can be made online.