I am going to participate in a study researching cardiomyopathy in Friedreich's Ataxia (FA) patients. The Department of Genetic Medicine at Weill Cornell Medical college is researching to compare and evaluate different tests in assessing the cardiac dysfunction that can occur with FA. The study involves a 2 day visit to their lab offices in NYC in mid-July.
Since this is just a research study, I won’t be taking any drugs or supplements – just doing different exercises and undergoing a few different tests so they can compile data. The research and information learned from this study will contribute to the bank of information that researchers, doctors and scientists pull from when trying to find a treatment and cure for FA and its many symptoms.
Because I am breastfeeding, I am not eligible for a lot of the clinical trials, but I still want to contribute to the advancement of progress towards a cure, so research studies are a great avenue to do just that! This will be my second research study to participate in. I have also visited the Children’s Hospital of Philadelphia (CHOP) for the Natural History Study. I am due back for my second annual appointment this summer.
I am looking forward to being a part of this study. Growing up, I never thought that I would be participating in clinical trials or research studies for a life-shortening disease, but I am thankful that there is so much going on to work towards a cure for FA. FA is such a rare disease (only around 5,000 cases in the US,) but we are not going down without a fight. We are a passionate and dedicated community and I am honored to contribute in any way that I can.
Here is the info on the Weill Cornell Medical College Study.
Here is the info on the CHOP Natural History Study.
To learn more about the different studies and trials taking place, check out the Research Pipeline on the Friedreich's Ataxia Research Alliance's website here. All of these studies and trials are possible because of a generous network of support and donations. If you are an FA patient and haven't already, I urge you to sign up on the patient registry. It is a great way to stay up to date on current trials and to see which opportunities you can participate in
My husband, Kyle, and son, Brooks, will be going with me to NYC. This will be Brooks’s first plane ride (any tips and advice on flying with an infant are appreciated!!) And it will also be Kyle’s first visit to NYC! I will be at the hospital Thursday and Friday from 8am – 5pm. After that, we are free to do and explore the city! We are extending our trip through Sunday so we can have a fun little family vacation. Kyle already got tickets for the Yankees and I am making a list of the main attractions I want to take Kyle and Brooks to.