Visiting the Children’s Hospital of Philadelphia
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.