Website and Blog for the Sam McMahon Trust

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.

This week Sam went to see Dr. David Lynch and his team at the Children’s Hospital in Philadelphia. The FA programme is one of the largest of its kind and caters for in excess of 120 patients. The research programme is working to gain a better understanding of the causes and processes of FA and to find treatments.

Sam underwent some of the ‘regular ataxia tests’ including the 9-Hole Peg Test, Timed 25-Foot Walk and Low-Contrast Letter Acuity Test. We all did cheek swabs to participate in research that aims to measure Frataxin( the crucial protein that’s missing or in low supply in FA patients) in cheek cells. This non-invasive test may help to improve diagnostic and prognostic evaluation in patients and may be useful in evaluating therapies that aim to cure FA by increasing Frataxin levels.

We are deeply grateful to Dr. Lynch and his team at CHOP and to Jennifer Farmer and all at FARA, for their dedication to and interest in patients with FA. We plan to return to Philadelphia in the future to continue to participate in this programme.