Website and Blog for the Sam McMahon Trust

The third Saturday in May marks Friedreich’s Ataxia Awareness Day. Tomorrow, May 19th is Friedreich’s Ataxia Awareness Day in the USA.

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.

Plans are well under way for our Open Garden event that will take place on June 9th and 10th. The garden will open at 10am and tea, coffee and homemade goodies will be available all day.

We look forward to seeing you there!

The 55th annual meeting took place in San Antonio, Texas from March 16th to 18th this year. All of the presentations are now available on their website, you can click here to see the list.

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.

Until recently Neuro-Rehabiliation Services in Ireland were provided in an ad-hoc fashion and services seem to vary in different parts of the country. It is very difficult to establish what services are available for children and adults with Friedreich’s Ataxia.This may be partly due to the rarity of the condition but is also as a result of a lack of coordination between the service providers and specialists involved.

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…

Today is Sam’s 11th birthday. It’s hard to believe that so many years have gone by. Sam continues to hold his own and he is a typical happy young man.

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.

There are numerous parenting books available for parents offering advice on how to best care for their children. However parenting a child with a chronic illness poses additional challenges and the need for greater support. The demands of everyday day life are complicated and pushed to the extreme with the added pressure of medical appointments, treatments and procedures.

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.

As 2011 draws to a close and 2012 is only hours way, we look back on what has been a very busy year for us.

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.

Over the past number of months several people have approached us asking about the services that are provided for Sam. That got us thinking. After consulting with other families it seems that the physical therapy services for people with Friedreich’s Ataxia in Ireland are random and somewhat haphazard.

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!

This year we are working with FARA Ireland to raise money so that we can find a cure for Friedreich’s Ataxia. They have fabulous Christmas Cards for sale. There are some many designs that we can’t decide which ones we like best.

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