Saturday, January 23, 2010

Keith Michael Andrus: 12/21/1985 - 1/22/2010

Dear Friends,

We, at the Friedreich's Ataxia Research Alliance (FARA), are deeply saddened to inform you of the passing of Keith Andrus on January 22, 2010. Keith was the beloved son of FARA President Ron Bartek and his wife Raychel. Keith's diagnosis of Friedreich's ataxia inspired Raychel and Ron to pick up that torch, joining him in his fight, and found FARA. Even during the final and very challenging months of Keith's life he courageously continued to not only advocate for himself but for others with FA as he left no stone unturned exploring advanced and experimental treatment options. Keith also made the decision to make the ultimate contribution to research at the end of his life with the donation of his tissues so that research will continue. Because of Keith many thousands have hope for a treatment for FA. Thank you, Keith.

We often quote Ron as saying, "Acting alone there is little any of us can accomplish whereas acting together there is little we will not accomplish." These words are deeply rooted in the FARA culture- the way we pursue treatments and a cure for FA, and today they also serve as a source of comfort in this time of great sadness. While our hearts break for the Andrus/ Bartek Family, we feel the collective strength of our greater FA family. You stand beside us in our work every day. You hold us up. You push us forward. In this time of grief, you are present and our commitment to and sense of urgency for the FARA mission does not waiver.

If you wish to extend personal condolences to the Barteks, you can do so by mail at: 4505 Wakefield Drive, Annandale, VA 22003 A memorial service will be held on Saturday January 30, 2010 at 11am at St. Matthew's Methodist Church, 8617 Little River Turnpike; Annandale, VA 22003-3604. At Keith's request, FARA has established a memorial fund, designated to cardiac research in FA, for contributions made in Keith's memory.

We are grateful to Ron, Raychel and Keith for making their journey with FA into a greater alliance of families and for the FA research progress born out of that alliance.


The FARA Board of Directors & Staff

Friday, January 22, 2010

FA Cardiac Study

On my way home from Philadelphia earlier this week I stopped by Ohio State University in Columbus Ohio to participate in the Cardiac Study with Principal Investigator Dr. Subha Raman. This study uses a cardiac MRI to take very accurate pictures of the heart. The purpose of the study is to develop a protocol for detecting common signs of cardiomyopathy (the condition that shortens the life of an FA patient) in FA. Little is known about cardiomyopathy in FA because there has not been an accurate way to track it...until now. With this new technique, cardiomyopathy can be detected in early stages and can be treated with common, established treatments.

This study was one of two ($120,000 each) funded by the proceeds from Ride Ataxia II.

I showed up to the Medical Center and was greeted by the smiling face of Beth McCarthy (Dr. Raman's research coordinator). I got checcccked in and we headed back to the prep room. There was a team of four other nurses in the room to wait on me and make me feel comfortable. The first thing was to get into some more comfortable ccclothes so they gave me a robe and some pajama bottoms to change into. Once I was changed, they told me to laaaay back and they got started. First, one of the nurses shaved three patches out of my hairy chest so they could find skin to put some little sticky electrodes (maybe I should just shave it all off).
Then another nurse put two IV's in my right arm (she said I have nice veins and I called her a vampire, she gave me an affirmative shrug). Ine of the IV's was for the injection of a drug that causes the blood vessels to expand temporarily so they can see the vessels more clearly. The other IV was for a "contrast agent" which helps the MRI machine see the blood vessels in contrast to all the other stuff on the inside.

After I was all poked, prodded, and prepped I got in a wheelchair and they transported me over to the room with the MRI machine. As we waited for our turn to use the machine Dr. Raman sat down with me to chat about the study. One of the things that stuck out to me was that this technique is very accurate and the results are easily reproduceable. Often times in a research study the results have a lot of variability so it takes a large number of participants to produce statistically significant results. The MRI technique used for this study is produces dependable results that not variable and can be reproduced easily.

When the machine became available, we rolled in to meet another two technicians that were there to monitor the process. I transferred to the little sliding bed which would carry me into the machine and they got me all hooked up to wires and IV's again.
The scan would take 45 minutes but I wore headphones for communication with the technician and the headphones played music so I didn't have to listen to the loud, strange noises coming from the huge machine that surrounded me. About 20 minutes in to the process, the technician informed me that they were going to inject the drug that would enlarge my veins, she told me that my heart rate would go up, my chest might get a little tight and my breath might get short. The injection went in and I felt all the symptoms but they were not half as bad as they were hyped up to be. That was the most uncomfortable part of the process...piece of cake!

They removed me from the MRI machine at 11:55 and I was supposed to be speaking at noon. So we rushed back to the prep room where I was hooked up for one last EKG before I quickly changed and headed out to address the members of Dr. Raman's team. During my talk to the group I let them know that we (the FA community) are their biggest fans and we aare in awe of their brilliant and capable minds. I let them know that the funds for their research came from a patient driven fundraiser which makes it all a little more meaningful. I let them know that they awre now part of a strong team that consists of patients, doctors, pharmaceutical companies, academic institutions etc. with the common goal to CURE FA.

Once again I felt empowered by participating in this study, especially knowing that this study operates from money raised during Ride Ataxia II.

Eventhough they pay each participant $100 (cha-ching), for me the main perk of participating in this study is that I have the best heart doctors in the country looking at my heart specifically for things that are caused by FA. There are lots of good cardiologists out there but OSU is the only place (so far) that offers such a close look at things that could potentially be wrong with a heart affected by FA.

To find out more about this study and to inquire about participation, please check out the recruitment notice.

Monday, January 18, 2010

Research Study at Dupont Childrens Hospital

Last Monday I took a trip over to Dupont Childrens Hospital in Wilmington Delaware where they are doing a study on hearing for people with Friedreich's ataxia. The purpose of the study is to examine if measures of auditory, speech and vestibular (definition of vestibular: Having to do with the body's system for maintaining equilibrium) could be used as potential appropriate scale for future trials. In other words, they are trying to figure out if hearing and balance can be sufficient means to track the progression of the disease so that when we are trying to determine the effectiveness of a potential drug, we can run these tests before and after treatment to determine if the drug is doing what we want.

So I showed up at the hospital and the receptionist was a little confused because I said I have an appointment (their patients usually don't have facial hair). But I found who I was looking for, Shanda Mortlet who I would hang out with for the next couple of hours (lucky for me she is super cool and we had a pretty good time). Shanda brought me into this tiny, sound-insulated room and sat me down at this mini desk with Pluto and Mickey on it. I sat down and got comfortable while they hooked me up to the machines that would test my ears and "vestibular" attributes. This is what it looked like when I was all hooked up:

Please do not be alarmed by the look on this face, Kyle was not harmed in the procedures of this research study. Shanda accidentally pushed the button too soon and this is what came out, I think its kinda funny.

So I sat at my mini desk for a bit while beeps and humms were played in my ears and Shanda was glued to her little readout making sure we were getting good results. Then Shanda left the room and I pushed a button when I heard a beep. The entire study was completely favorite part was trying to tell if there was one beep or two, I'm really good at that one.

As a patient it is one of my greatest roles to be a participant of research studies because without data we cannot get treatments approved and we are left without hope.

It is very empowering to me to be able to directly contribute to a study like this because these are the kinds of efforts that are all pieces of the puzzle. The insights gained here will help us understand the disease a little more so we know more about how to attack it. This is one of many studies that will help us push toward the finish line; a cure for FA.

If you have FA and are interested in participating in this study please check out the recruitment notice. We need 30 participants and I was number 6. FARA recently gave a grant to this study to help cover travel costs for participants so check it out!

Sunday, January 10, 2010


Last Friday I gave a presentation to Penwest Pharmaceuticals. The purpose of my visit was to let them know that we are grateful for the work they have done on A0001 (alpha-tocopherolquinone, a compound similar to Coenzyme Q10, this drug is designed to improve mitochondrial function, specifically the way glucose is converted to energy, which is often impaired in individuals with FA). My purpose was also to relay the feeling of urgency that is pulsing through our FA community.

During my talk I gave them an overview of my story with some photos and stories to go along with it. I let them know the extreme measures our community is willing to take to cure this disease. I let them know that they are part of our community and we have one goal, to cure FA. At one point, the CEO of Penwest, Jennifer Good stood up and added to my comments making sure that her people know that FARA has been involved in A0001 from the beginning and has pushed things along to make the process as efficient as possible. She reiterated the point that every moment counts when we are talking about a progressive disease and she encouraged everyone to think about why they are doing what they do. I was pretty pumped to hear Jennifer's comments and I am confident that Penwest is working hard to push A0001 along as quickly as possible.

After my talk they gave me a tour of their operations. Tony showed me the labs where they formilate the drugs, make sure they dissolve correctly and ensure that the correct dose will be delivered over the correct period of time. He also showed us a section of the lab where they actually assemble pills starting with solids or liquids. Below is a picture of me and Tony in a section of the lab where we had to put on lab coats, hair nets and little cloth booties, it looks like we are ready to serve some Sloppy Joes !

After the tour we all sat down for some lunch to talk about the upcoming rides and how they might be able to get involved. They are forming the Penwest cycling team and plan to join us on our upcoming rides!

Thanks for allowing me to share my story, keep up the good work, we are rooting for you!!

If you have FA and would like to find out how to participate in the A0001 clinical trial check out the recruitment notice.

If you want to find out more about Penwest and A0001 check out this press release.