Website and Blog for the Sam McMahon Trust

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!!

Since Saturday 4 brave men and a road crew of 13 people have been making their way across America in what is regarded as ‘the world’s toughest bike race’. What is more shocking is that two of the riders have FA! They want to raise awareness about Friedreich’s Ataxia and I for one am mesmerised by their challenge. They are almost at the halfway mark and I find myself logging on to their blog morning and evening to get an update. You too can follow their progress by clicking here.

Kyle, Sean, John and Mike we think that you are 2010 hereos!!!

Yesterday June 12th we held our 2nd Open Garden event. With the first visitors arriving at 9.50 in the morning and the last drifting off around 5.30 we were delighted but exhausted after such a great day. Although the weather has been unpredictable over the past few days, yesterday was different. The sun shone most of the time and at one stage someone said that it was a bit too hot!

Thanks to the team of workers who were kept busy for the whole day and thanks are due to all of the kind people who baked delicious cakes, buns and goodies for us. And thanks to you for coming, for taking time out of your weekend to support the event.

Enjoying the sun at Sandymount on the June Bank Holiday weekend…

The National Ataxia Foundation (NAF)  has commenced its annual membership drive for 2010.

NAF strives to serve the ataxia community. The monies received from membership fees and donations pay for the various publications, maintanence of the website, development of support groups and awareness programmes. Their annual conference is attended by people from around the world and provides the opportunity to meet world class researchers and clinicians.

To join NAF or to find out more about them, click here.

This year the Open Garden event will take place on June 12th at 40 Templeroan Avenue in Knocklyon. The garden will open from 10am until 4pm and entrance is €5. There will be tea, coffee and plenty of home-made goodies.

Tickets for our annual raffle will be on sale on the day. With 15 superb prizes including a weekend for two people in London, no doubt they will sell out fast! Tickets will cost €10 for a book of 5, and there will be a limited number of goodie bags for early purchasers on the day.

The garden will open, rain or shine and all proceeds will go to the Sam McMahon Trust and the Friedreich’s Ataxia Research Alliance (FARA).

Last night at the Radisson Blu Hotel, chef Andrew Rudd entertained over two hundred guests with mouth-watering recipes and a demonstration that would encourage and motivate even the most reluctant cook. Thai Fishcakes, Chicken Satay, Medallions of Lamb with Mint and Coriander Salsa and Fragrant Thai Chicken Curry were created with ease. Desserts included Mascarpone and Ricotta Cheesecake and Meringue Roulade. While he cooked, Andrew regailed the audience with stories about his grandmother and tips on where to buy the best (and cheapest!) utensils and the highest quality produce. Thanks Andrew for a superb evening and for giving your time so generously. We wish you every success in the future.

There were 25 spot prizes, all supplied by kind sponsors, and goodie bags for ‘everyone in the audience’! Under the guidance of General Manager Neil Lane and the event co-ordinators Liga and Rebecca we couldn’t have asked for more. The Radisson Blu is a fabulous venue and we couldn’t have run the event without the expertise and support from the team there.

The  Loreto Rathfarnham Parents Association are a superb group. They had worked out every detail and were on hand to ensure that everything went according to plan. To those who sold tickets, packed goodie bags and spent the evening working, thank you! Thanks also to Sr Maria, Principal for her willingness to take the project on board and to Eugene Gargan who did MC on the night,  you did a great job!

To Clare and Pat, Sam’s grandmothers, thanks for being there and helping us out. To Karen, Andrew’s assistant, you took on a tough job and did us proud and to Sue who worked away hours before the event to ensure that everything was ‘just so’. To Jennie who gave up Wednesday evening to help with the goodie bags and to all of those people who worked quietly away in the background, we appreciate it. Thanks also to Ray and the gang at Menupages for their support. And finally to Sandra, who works tirelessly for Sam while being a busy mum and business women, we couldn’t do this without you.

And to each and every one of you that bought tickets and made the night fun, thanks!!!

Today, May 15th, is Friedreich’s Ataxia Awareness Day. The day will be marked by a number of events across the United States to raise awareness and funds to support research projects that will hopefully lead to treatments and a cure for Friedreich’s Ataxia.

As far as we know the day is not marked in Ireland but FA families in Ireland will continue to raise awareness about the condition and we at the Sam McMahon Trust are busy preparing for the Andrew Rudd cookery demonstration on May 23rd and the Open Garden on June 12th. The Friedreich’s Ataxia Research Alliance (FARA) will benefit from these events.

The Repligen Corporation announced today that it has lodged an application with the Food and Drug Administration (FDA) for a Phase 1 study of RG2833, a selective histone deacetylase 3 (HDAC-3) inhibitor. Pending FDA approval this will be this first step in the clinical development of RG2833 as a potential treatment for FA.

Repligen state that ‘preclinical studies in animal models and patients’ cells have shown that RG2833 crosses the blood brain barrier, activates the defective frataxin gene and increases the production of frataxin.’

To read the full press release you can go the FARA website here and go to News on the right hand side of the page.