It is important to remember that patients have tremendous influence on research. Scientists conduct research with the overall goal of improving patient health, but the work in the lab can only carry research so far. At some point, patient involvement is required. By participating in clinical trials, patients give researchers information they can obtain in no other way.
Like everyone else, patients have busy lives and for rare disease studies patients may have to travel some distance to participate. For example, Kristen traveled from California to Minnesota to participate in an Alport study. We asked her to share why she chose to participate and how that decision has already benefited her and her family.
Being part of the ATHENA study on Alport syndrome has helped me more than I ever expected. When I was first approached about the ATHENA study, my first reaction was that it seemed like a lot of time and effort and I was ultimately not sure if it would be worthwhile for me to participate. I work full time, more than full time if I’m being honest, and I have a husband and young son. It is hard enough finding the work/life balance right now, so how could I possibly add something else to my plate? The answer for me was that I needed to do this so that my son, if diagnosed, could potentially have a cure or a better fighting chance at longer kidney function than what I currently have. You see, I was recently diagnosed with Alport syndrome 4 years ago after complications with my pregnancy and barely making it through the birth. Scary, right?
This study then became a motivating factor for me. I began to see it as a way to help myself and others, so that hopefully one day, there will be a cure…idealistic, I know. Also, I am still learning a lot about Alport syndrome and thought that this study could help me understand it better so that I can make better choices for myself and my son (if needed). In addition, it offered free genetic testing which our insurance would not cover due to the large expense. So, I signed up not really knowing what to expect.
What I found was that it is a relatively easy process. All of the travel arrangements were made for my husband and me to go to Minnesota, including flight, transportation and hotel. We had all of our meals paid for, as well, so we look at it as a mini-vacation. I also get paid for my time and participation. The ASTOR staff in Minnesota, Kristi in particular, are very friendly. Let’s face it, the 24-hour urine collection is no one’s favorite, but it isn’t terrible. The measured glomerular filtration rate (GFR) test was okay as well. The staff made sure we were comfortable and we were able to watch TV, read, etc., throughout the 4-hour visit. We are only requested to fly to Minnesota every 6 months. In addition to site visits, a home health nurse comes to our house every 6 months for blood work and 24-hour urine collection. Whenever there was something I wasn’t sure about, Kristi was there to help me through it and make the appropriate changes.
Through this process, I have been able to answer my initial question as to what this study will do for me.
- I have been able to find out that I do have ARAS (Autosomal Recessive Alport syndrome), what that means for me and what that means for my son.
- I learned that my medication dosage my nephrologist had me on was too low, so I was able to increase that, which has helped me decrease the amount of protein I was spilling and thus helping my kidneys.
- I have been more informed of patient meetings, where I have been able to learn about proper diet for kidney disease, as well as types of exercise that are most beneficial.
- I now have a nephrologist that is linked with studying Alport syndrome available for me to ask general questions.
- I have seen my GFR dropping through the visits, which is scary, but ultimately I am very thankful for being able to see it so that I could change my medication to try to slow it down. All in all, I truly feel as though this study is saving my life.
What I am most worried about now is when I am not in this study and being monitored regularly, and having my GFR tested every 6 months. This is something I will have to speak with my Nephrologist about and I know that I can get support from the study coordinators in Minnesota to help with this transition. This is why I recommend to anyone not sure whether they want to participate or not, to choose to do it!
What Can You Do Now?
Patient organizations and researchers around the world are very interested in advancing Alport syndrome research, with particular interest in finding more effective treatments that can indefinitely delay or prevent kidney failure. The ATHENA study is the first major US study connected to this goal. If you are not interested in participating in a study or do not meet the study requirements, you should still be part of the patient registry so you can receive current information on the treatment of Alport syndrome.
The Power In Numbers by ASF president Sharon Lagas
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