We do not have an official day in Ireland so we’ve decided to share their day. Raising awareness, teaching others about the condition, helping to find a cure, all of the little things that will help others to understand this rare condition.

We at the Sam McMahon Trust  have a very busy weekend ahead. We will celebrate a special birthday for Karen, one of Sam’s superb aunts. We wish her happiness, health and a very Happy Birthday. We appreciate all that you have done and continue to do for Sam.

We look forward to seeing you there!

One of the most significant presentations focuses on the heart in Friedreich’s Ataxia patients. Click here to read the presentation by Dr Mark Payne. With the limited information about and understanding of the heart in FA patients it would probably be a good idea to save a copy, just in case.

The recent HSE report entitled The National Policy and Strategy for the Provision of Neuro-Rehabiliation Services in Ireland 2011 – 2015 aims to provide a service that is ‘local, individualised, timely and integrated‘ in a ‘flexible, responsive and accountable system‘.

To read the report, click here. We hope that the reality lives up to the aspirations…

Sam receives great support from his family and friends, he is also well looked after by his teachers and Fiona in school, his Pilates teacher Tracy and physiotherapist Eoin. We are also indebted to his doctors and their teams, in Ireland and Philadelphia for their care and expertise.

Happy Birthday Sam! We love you as high as the sky, as deep as the sea and as big as the whole wide world! X

This year Rare Disease Day will take place on February 29th. The aim of the day is to raise awareness about rare diseases. The focus of the campaign this year is Solidarity.

80% of rare diseases are genetic in origin and 50% affect children. In most cases there are no cures. Friedreich’s Ataxia is classified as a rare disease. We would like to join our voice with others who have rare diseases in the hope that those who have rare, incurable diseases will receive more support, understanding and care.

If you would like more information about Rare Disease Day or you would like to tell your story, click here.

In Extreme Parenting, author Sharon Dempsey, writing from her own experience with her son Owen who was ill for several years and eventually died at home, gives an insight into the world of chronic illness and the effect on parents, siblings and extended family members. She defines chronic illness as treateable or manageable but not curable.  She acknowledges the importance of the parents ability to cope and the impact of their care giving on the wellbeing of the child.

Extreme Parenting does not represent the experience of parents who have children with Friedreich’s Ataxia but offers advice and reassurance. Dempsey emphasises the need for good and effective channels of communication.  She provides practical advice on issues such as coping with hospitals and treatments, advocacy, communicating with health care professionals and tips for family life.

A difficult but rewarding and inspiring read.

There were many high points including our visit to see Dr Lynch at CHOP, in Philadelphia at Easter, the Mum’s Lunch which took place in June, the King of Greystones Triathlon in August and the overwhelming response to the Christmas cards sold in aid of FARA Ireland.

On a personal note much of our energy this year was spent on making plans for the future. Sam now has an accessible bedroom and bathroom downstairs. The upheaval of the building work meant that we could not hold the Open Garden event, however plans are under way for the 2012 opening and we expect to confirm a date in June in the coming weeks.

We appreciate the kindness and dedication of those who continue to support the Sam McMahon Trust, those who undertake fundraising, the Mini Marathon, the Dublin City Marathon, those who give their time and enery to  help us, those special people who work behind the scenes and say nothing. To our families and friends who are there to support us along the road that we wish we didn’t have to travel. We thank each and every one of you!

We are looking forward to 2012 and to meeting with you along the way.

Some people have regular physiotherapy, others have hydrotherapy. Some get nothing at all. Why is that? How could people with the same condition get different services or none at all? We know that the disease does different things but all too often the results are the same.

We decided to create a survey. If you are the parent of a child or young adult with FA and live in Ireland, would you fill it in? Follow the link here and then submit.

Armed with the results we may be in a position to ask for better services for those with FA!

Have a look on our shop page and see for yourself.