Website and Blog for the Sam McMahon Trust
At the start of the year we resolved to organise a lunch for Mums who have kids with FA. Well we are true to our word!
We will meet on June 18th at the D4 Berkeley on Landsdowne Road between 1.30/2pm.
If you would like to come along please contact us at sammcmahontrust@ireland.com.
We are looking forward to seeing you.
After months of planning, work got under way today for an accessible bedroom and bathroom for Sam.
The first part of the job involves quite a bit of demolition and dust is going to be something that will feature prominently in our lives for the foreseeable future. It’s going to be a long ten weeks but no doubt it will all be worth it in the end.
Sam was on hand today to give the builders a hand….
Finding a cardiologist who specialises in Friedreich’s Ataxia is a challenge. There has been very little research done in the field of FA heart and the associated cardiomyopathy. However Dr Mark Payne from Riley Hospital in Indianapolis has recently published an article entitled The Heart in Friedreich’s Ataxia: Basic Findings and Clinical Implications.
In this review Dr Payne focuses on the basic findings of the disease and the cardiomyopathy that is associated with it. As well as looking at the genetics and background to the disease, the author also considers treatments and future therapeutic directions. Dr Payne also emphasises the need for clinical trials and studies in this field.
To read the article click here.
On Tuesday May 3rd Sam attended the Baltinglass Outdoor Education Centre with a group from his school.
We really weren’t sure how much of the day Sam would be physically able for and although we told him to give everything a try we did not think he would try so many of the activities and enjoy them.
I was a little, okay, quite concerned, about the fact that this would be a very physically challenging day. Around mid-day we received a number of photos of Sam in a kayak and doing archery. Our first response was one of denial, it couldn’t be him, he wouldn’t be able to climb into a kayak and not capsize. Not for a minute did we think he would get into a kayak never mind go out on water in it. He told us that when he couldn’t get back from the centre of the lake one of the Education Centre staff went out to him and brought him back.
Sam came home exhausted but very happy about his day out. Sam was allowed to enjoy his day out and to face new challenges. The team at Baltinglass made sure that he could try what he wanted to try. If I had travelled with the group I would have been too afraid of what might go wrong and would probably have discouraged him. That said his school mum, Fiona was with him so we knew he was in safe hands!
We are so grateful to the team at Baltinglass for allowing Sam to have a great day, to try new things and to be the ‘same’ as the other boys.
Sam and his family have just returned from a trip to the Children’s Hospital of Philadelphia to see Dr Lynch. The meeting with Dr Lynch and his team involves a review of how the past year has gone. Changes or problems that have arisen for Sam are discussed and the usual neurological tests are carried out.
Sam and his family also participated in research tests being carried out by Dr Lynch and his team. It is hoped that the findings from this research will contribute to a deeper understanding of FA and to developing treatments for the condition.
Dr Lynch was very pleased with Sam and the fact that, at present, he is ‘holding his own’. He suggested that Sam add Coq10 to his drug regimen. There have been some recent indications that this natural antioxidant may have some positive impact. Sam now takes 100mg of Coq10 daily.
We are very grateful to Dr Lynch and all at CHOP for the work that they do for FA.
The National Ataxia Foundation (NAF) annual meeting took place recently in Los Angeles. If, like us you, were not able to travel to the US for the meeting, you can view the powerpoint presentations here. These include presentations from world-leading ataxia scientists and experts in the various fields associated with ataxia.
Plans are underway for the 2012 conference due to be held in San Antonio, Texas on March 15-18 2012.
The National Organisation for Rare Diseases (NORD) and others around the world will observe Rare Disease Day on February 28th.
Millions of patients and their families will share their stories and experiences to raise awareness about rare diseases.
In Ireland, Rare Disease Day will be marked by a public meeting, Patients and Researchers: Partners for Life at the European Union House on Dawson Street. For more on information about Rare Disease Day or to attend the meeting, click here.
Today is Sam’s 10th Birthday. Oh how time flies! We are so proud of you and of course we love you to pieces. X
Scientists in Australia have developed adult induced pluripotent stem cells (iPS) using skin biopsies from patients with Friedreich’s Ataxia.
Dr Alice Pebay and Dr Mirella Dottori co leaders of the study from the University of Melbourne, characterised and directed the iPS cells to becomes specific cell types, including heart cells and nerves, which do not funtion normally in patients with FA.
It is hoped that this discovery will lead to new trial treatments for Friedreich’s Ataxia and other diseases.
The current issue of the Muscular Dystrophy Association’s (MDA) Quest Magazine includes an interesting and informative article on Friedreich’s Ataxia.
As well as including facts about FA there is an update on current research. This is followed by interview with neurologist Susan Perlman, a specialist in the field of FA over the last 30 years and cardiologist Mark Payne. There are also useful contributions by Physical therapist Melina Guttry and Speech-Language Pathologist Anne Wallace.
The article concludes with four profiles of people living with FA. To read the article click here.
