Website and Blog for the Sam McMahon Trust

Patients with Friedreich’s Ataxia often require spinal fusion surgery as a result of severe scoliosis. Sometimes these patients do not do well during and after this surgery as their hearts are weak. At present it is impossible to predict who will have heart problems  but a new study may help to shed light on this in the future.

Dr Mark Payne is conducting a study into this but he needs your help. He is looking for the medical records of patients undergoing spinal fusion surgery before, during and after surgery.This study includes patients who have done well and those who have not and may have died after surgery.

For more details about the study, medical records that are required and information on how to contact Dr Mark Payne then click here.

The Dublin Marathon takes place on Monday October 25th. A number of people have been in contact with us looking  for sponsorship forms to raise money for the Sam McMahon Trust. So if you need a sponsorship form click here.

Thanks for thinking of Sam and have a great race!!

October 6th marked the beginning of the Annual Seasonal flu Vaccination Campaign. The Health Service Executive (HSE) reminded everyone at risk of influenza this winter to ‘Get the Vaccine, not the Flu’.

This year the seasonal flu vaccine contains three common flu strains including the H1N1 (swine flu) strain which is still circulating this year and is expected to be the most common strain this year.

The seasonal flu vaccine is free for at-risk groups. People who suffer from Friedreich’s Ataxia are considered an at-risk group. For more information on the Seasonal flu Campaign click here.

The second Ride Ataxia Philadelphia event takes place today.

With 10, 25 and 50 mile routes through scenic country roads there will be something for every level of fitness. That said the 50 mile route involves 3,000 feet of climbing and is suitable for experienced riders only! Lunch, sponsored by Outback Steakhouse, Bonefish Grill and Carrabbas Italian Grill, will be served between 11.30 and 2.30.

All funds raised will go to the Friedreich’s Ataxia Research Alliance (FARA).

We hope that everyone has a great day and we wish you well!!

Penwest Pharmaceuticals have initiated a Phase IIa Clinical Trial for A0001 due to commence in December. Screening of prospective patients is underway. The study will be conducted at the Children’s Hospital of Philadelphia.

The Phase IIa Clinical Trial is a double-blind, randomised, placebo-controlled trial that includes high and low doses of A0001 and a placebo. The objective of the study will be to investigate if  A0001 has a discernable impact on various functional, biochemical and subject/clinical-rated scales relevant in the treatment of FA.

Penwest intends to enrol 42 patients and they will be dosed for 28 days. For more details about A0001 or Penwest Pharmaceuticals, read their press release here.

The final details and programme for the 3rd annual Friedreich’s Ataxia Symposium, sponsored by the Children’s Hospital of Philadelphia, have been released. Pre -registration is required and the registration deadline is October 22nd.

There will be presentations on pathophysiology and therapeutic pathways, clinical trial updates, the heart in FA patients, diabetes and the keynote lecture will be given by Richard  Cohen, author of Strong at the Broken Places.

For further details about registration, the programme or hotel accomodation click here.

With up-to-date information and a chance to meet some of the greatest experts in the world, this is an invaluable experience for those who have FA and their families.We have our flights and hotel booked!!

In 1960 Ireland entered a team in the 1st Paralympic Games in Rome. Inspired by this event a small group got together. Their aim was to achieve greater independence, freedom and choice for people living with disability.

In November 1960 the Irish Wheelchair Association was formed. Since then the IWA have become an important provider of quality services for people with limited mobility. Today the association has 20,000 members and 2,000 staff, as well as many dedicated volunteers.

The IWA offer a wide range of services for people with disabilities. For more information about their services or to find out more about the 50th Anniversary celebrations click here.

European Project for Rare Diseases National Plans Development (EUROPLAN) will hold a conference in Dublin on December 3rd. EUROPLAN are working to develop strategies and plans for rare diseases in all European states by 2013. National authorities, health care planners and researchers and patients are welcome to attend.

For further information about the workshops that will be held on the day or to make a booking, click here.

September 25th is International Ataxia Awareness Day. The goal of the day is to create awareness about ataxia. The Sam McMahon Trust team continue to work at raising awareness about and understanding of Friedreich’s Ataxia.

We are currently working on a number of new ideas to help to further raise awareness. So keep an eye on the site for more details….

This month our website is one year old. With posts on clinical trials, symposiums and living with FA we hope that we have raised awareness about and helped people to understand Friedreich’s Ataxia. Fighting to find treatments and a cure for a rare disease is a terribly difficult task. Watching a disease march on and take its toll is soul destroying. But that’s the path we’re on and we will march on.

Thanks for your support. We appreciate the comments and emails so don’t stop.

At present Sam is holding his own. He continues to be a happy contented young man, who knows what makes him happy. He is has decided to grow his hair and so looks a bit like Julius Caesar (according to Margaret Lawless!!) at the moment. He wears his hoodie when it’s hot outside and has said that he will take it off when it’s cold! His goreous smile and his ability to take things in his stride make him a pleasure to be around.

CURE FA!!!