Website and Blog for the Sam McMahon Trust

A recent study has shown that people with Friedreich’s Ataxia have heart problems even though current tests (ECG and Ultrasound) do not show signs of heart disease. The article concludes that

Patients with FA have abnormal myocardial perfusion reserve that parallels met-S severity. Impaired perfusion reserve and fibrosis occur in the absence of significant hypertrophy…

This is a significant finding and it’s important that families are aware of this information. It would probably be useful to print off the article and keep it with your records. To read the complete article click here.

Note: This post provides details about recent research findings. It is NOT a substitute for qualified medical opinion. If you have concersn about your health, you should consult with your doctors immediately.

The Friedreich’s Ataxia Research Alliance (FARA) have just published their updated research pipeline and it makes for great reading. The graph communicates the progress of research. FARA supports the advancements of these treatments. They firmly believe that there is merit in each of the approaches and that a treatment will come in the combination of a number of therapies. To see the graph click here.

An early Christmas present!

Dr David Lynch from the Children’s Hospital of Philadelphia recommends that a number of tests are done annually. Our experience is that not all of these tests are not done routinely in Ireland unless you ask for them. So we thought that you might find this list useful.

• Neurological: See the doctor coordinating your care
• Physical Therapy
• Cardiology: ECG and Echo, Holter monitor if necessary, Base line Troponin level (can be done with blood test)
• Orthopaedics: Scoliosis X-rays
• Blood Test: Fasting Glucose, HBA1C (both for Diabetes)
• Annual Flu Vaccination
• Audiology/Ophthalmology if relevant.

Note: This post is a summary of information given by Dr Lynch, it is not a substitute for qualified medical opinion. If you have concerns about your health you should contact your doctor immediately.

We are delighted to announce that our 2011 Christmas Cards are on sale.

This year, we have five different packs.  Each pack contains 15 cards with matching envelopes with 3 different Christmas scenes in each pack.   They are great value too at €8 for the pack of 15.

The entire proceeds from the sale of these cards goes to Friedreich’s Ataxia Research Alliance  Ireland (FARA) which is an Irish registered charity who, in conjuction with FARA in the States, is searching for a cure for Freidreich’s Ataxia.

We’d be delighted if you would buy now in our shop.

We came across an interesting article called Permission to Fail…and Succeed by Kathie Snow. Kathie’s website called Disability is Natural challenges and encourages people to think about disability in a new way. She believes that where we change our attitudes and action we can create a society where all adults and children, including those with disabilities, can live the life of their dreams.

This particular article challenges us to give children and adults permission to fail. Kathie believes that once people get over their fear of failure there is a greater chance for them to succeed. You can read the article here.

Dr Mark Payne, a cardiologist from Riley Hospital in Indianapolis gave one of the presentations at the Friedreich’s Ataxia Symposium held in Philadelphia last Saturday. Dr Payne works closely with FARA and Dr Lynch, the director of the Friedreich’s Ataxia Programme in the Children’s Hospital of Philadelphia.

It is well known and widely accepted that cardiac issues around Friedreich’s Ataxia are potentially the most dangerous and can have devastating consequences. However even though there have been many articles published on different issues surrounding Friedreich’s Ataxia, sadly little has been done in relation to Cardiomyopathy and the FA heart. Dr Payne is working to change this but it will take time.

The concern for families and patients is that without this information mistakes can, and have been made. As we wait for guidelines to be issued Dr Payne has provided the following  TOP 6 THINGS TO CALL ABOUT. He advises that where one of these things occur that you should contact your cardiologist. He also says that ‘as Friedreich’s Ataxia is a mitochondrial disease all sufferers have Cardiomyopathy by definition‘.

TOP 6 THINGS TO CALL ABOUT

1. Fast heart rate : >120, you can’t count it, it does not stop
2. Passing Out
3. Severe Chest Pain : left sided, does not go away (this is rare but requires immediate attention)
4. Irregular Rhythm : you can feel it
5. Shortness of Breath : new onset, exercise
6. Loss of Endurance : can’t get through the day, change

Note : This post is a summary of information given by Dr Payne, it is not a substitute for a qualified medical opinion. If you have concerns about your health you should consult with your doctors immediately.

We are thrilled and delighted that over the past year, with your help, we raised $10,000 for the Friedreich’s Ataxia Research Alliance (FARA).  This means that in two years we have raised $20,000!

A cheque was presented to the director and founder of FARA, Ron Bartek at the 3rd Annual Friedreich’s Ataxia Symposium in Philadelphia. All of these funds are used to support and fund research projects that we hope will lead to treatments for Friedreich’s Ataxia.

We would like to thank YOU for your support, kindness and generosity. We have some new ideas to help with the fundraising for 2011 so keep an eye on the site. We would like to think that we could achieve this figure for a third time…

The third annual Friedreich’s Ataxia Symposium took place last weekend in Philadelphia. With approximately 250 in attendence this was the largest gathering to date.

The Meet and Greet session on Friday evening gave people the chance to get together and to discuss their thoughts and experiences. Kyle Bryant and his Race Across America team mates shared their memories of the eight day, seven hour and fifty nine second race. The team were followed by a film crew and over the coming months the footage will be edited and a documentary will result.

Saturday began with an early start at 7.30. There were presentations on Biochemical Mechanisms and Therapeutic Pathways, Financial Planning and Personal Care Assistants. The keynote lecture was given by Richard Cohen, author of Strong of the Broken Places.

Over the coming days we will post important, up-to-date information that we learned about managing FA.

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!!