As a Friedreich’s Ataxia (FA) patient, I want to do whatever I can to contribute to finding a cure for this disease. Not only for myself and my future, but for the lovely FA community that I’ve been blessed to get to know since my diagnosis. To do my part, I signed up for the patient registry through the Friedreich’s Ataxia Research Alliance (FARA). Here, I find out about all research studies and clinical trials the moment news is available straight from the study coordinators!
When I heard that there was a study in NYC, I was immediately interested because, let’s be honest, who doesn’t look for an excuse to go to the city?? The Department of Genetic Medicine at Weill Cornell Medical College is researching cardiomyopathy in FA patients. They are looking to compare and evaluate different tests in assessing the cardiac dysfunction that can occur with FA.
Fortunately, I don’t suffer from cardiac symptoms (yet) but since I have a confirmed diagnosis of FA, I was eligible for the trial.
Here is a rundown of the trip:
Flew in Wednesday and had touristy-fun around the city with Kyle and Brooks!
Thursday morning, I reported to the offices of the Genetic Medicine department at Weill Cornell. The study coordinator, Katie (who is so sweet), met me in the lobby and gave us a run-down of what the two days would entail.
I then did a pretty standard vitals check (heart rate, blood pressure, temperature, etc.) and met with the neurologist to discuss how FA was manifesting itself for me.
Then I got strapped up with EKG censors and an oxygen output analyzer mask for the bike test. Here, you pedal a hand bike at increasing watts of difficulty while they track your cardiac function. You just pedal until you can’t anymore, and they track your “recovery.”
After a quick vitals check (again) I was released for lunch. So I went back to the hotel to relax for a bit.
After lunch, I met Katie at a cardiac wing of the campus to get fitted for a Holter monitor. They taped it down to me and I had to wear it for 24 hours. So, I got to rock a fanny pack belt that carried the receiver all night.
Then came the part I was dreading…. The eye exam. (Eyes REALLY gross me out). But the ophthalmology team was so nice and patient, it definitely wasn’t as bad as I expected. They put numbing drops and a lubricating gel in your eye so that they can press a camera to your eyeball to take pictures of the nerves in your eyes. (Gross, right? But it was actually pretty cool to see what the pictures look like.)
After that, I did the neurological exam. This consisted of the standard neuro exam of questions, following the doctors finger, touching your nose then the doctors finger, standing with your feet together, standing on one leg, walking heel to toe, checking for reflexes, etc. I also had to do every FA’s patients’ FAVORITE activity… the peg board.
Then came the neat part – walking on a sensor map. This tracks all aspects of your gait. How long your stride is, what part of your foot touches first, your walking rhythm, and your stride speed. Really cool stuff! And that was it for Thursday.
I met Katie in the lobby and we headed over to a different office to get a cardiac MRI. I’ve had 2 MRI’s before, but never a cardiac one. The main difference is that you can’t sleep. You have to breathe in, push all the air out, and hold it for a certain length of time. Anywhere from 8 to 21 seconds. The whole MRI took a little over 2 hours. But all in all, not bad.
Then I got to go back to the hotel for lunch! After lunch, I met Katie to go get an echocardiogram. This is basically a 45 minute ultrasound of your heart where they measure all sorts of stuff. When that was wrapped up, I headed over for a chest x-ray. That was super quick and easy.
Then we headed back to the main office for another vitals check and another go on the bike.
After that, I was all done with the study and free to go play in the city!
My husband, Kyle, my son, Brooks, and my Mom, Shirley, accompanied me to NYC. It was Kyle’s first time in NYC, so we made sure to get in lots of sight-seeing! We did a carriage ride through Central Park, walked 5th Avenue, went up the Empire State Building, toured the 9/11 memorial and museum, saw Rockefeller Center, did the Central Park Zoo, Grand Central Station, the NY Public Library, Times Square and the High Line. We didn’t make it to the Statue of Liberty, the Natural History Museum, a Yankees game, or the MET. But that just means that we will have to go back!
Brooks was such a little trooper. He did great on both flights and made friends with the flight crew. He settled in to our home-away-from-home and was a happy little camper. He loved seeing all the tall buildings and all of the hustle and bustle of the city. He definitely played hard and slept hard.
Overall, I am so glad I went. It was wonderful to meet the people researching FA. 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! I highly recommend that FA patients who are able to travel look into participating in this study. (flight, hotel, transportation to and from the airport and lunch are paid for by the study) The team is so nice and it really is a pretty pleasant experience, considering its 2 full days of doctors offices! Plus, they send you all of the results, so you get to update your records!
If you are interested in this study, here is the info. They need approximately 15 more FA patients for the study. SIGN UP! It’s worth it!
Want to learn more about clinical trials and research studies taking place for FA? Check out FARA’s research pipeline 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.
And finally – an exciting note! This study is forming in Paris! The study coordinator for the French study was there while I was visiting. From this parameter study, we are hoping to pursue a gene therapy for Friedreich’s Ataxia but the timeline is still uncertain as of yet. I am sure the FARA pipeline will keep us all posted on that progress.
Brooks and I on the High Line
Kyle, Brooks and I at Rockefeller Center
Kyle, Brooks and I in Central Park
Brooks and I in Central Park
Kyle, Brooks and I at the NY Public Library
Brooks showing off his "wings" that he earned on his flight!
Kyle, Brooks, my cousin Anne, and I at Grand Central Station
Kyle, Brooks and I in our Central Park carriage.
Kyle and Brooks at Strawberry Fields
Brooks flying over the city (baby Godzilla!!)