There isn’t usually a whole lot of news about FA. Several different drugs are being studied to treat it, but most of them are decades from being available to patients. So I was please to finally hear some actual news last week when idebenone was approved in Canada for treatment of FA. See more here.
Out of all the drugs that have potential for treatment of FA, idebenone is the closest to being readily available. It’s currently in Phase III clinical trials, which is the last step before FDA approval. Many FAers already take idebenone, and I plan on starting soon; FDA approval will make this easier and cheaper for us, as insurances will cover it and we’ll no longer have to fill our own capsules. I’m not sure if the Canada approval has much impact on FDA approval, but it’s still awesome, and should make things easier for Canadian FAers.
Today Google Alerts sent me an article with the rather sensationalist headline Crippling disease secret uncovered. It’s not as interesting or revolutionary as it sounds. An excerpt:
The condition is caused by a build-up of toxic iron in the body’s cells, and now a team from the University of Sydney understands why.
“Our study examines the actual reason for why the disease develops and demonstrates for the first time the processes responsible for the iron loading,” said Des Richardson, a professor of cancer cell biology at the University of Sydney.
He said understanding toxic iron accumulation opened up the possibility of developing drug treatments that could remove it.
The article never says what exactly this ’secret’ is; maybe it’s too scientific and complicated to address in a short article. Whatever it is, understanding more about the FA is always beneficial, as it can lead to possible new treatments.
Idebenone and most other treatments tend to have the greatest impact on the heart disease associated with FA, not so much the actual ataxia part. I don’t currently have heart disease; ataxia (the loss of balance and coordination that is the hallmark of FA) is the main problem I deal with. Any drug I take probably won’t help this, and it almost certainly won’t reverse the damage that’s already been done to my nerves and spinal cord. But after living with this largely untreatable disease for 6 years, being able to take a drug that might do something is a welcome change.
I am pretty new to this FA thing! Even though 3 of my siblings were affected, I was too old. They were in wheelchairs when they entered their mid-thirties to early-forties. After I retired from the military, at age 45 I had the DNA test out of desperation of finding out what was wrong. I seemed clumsy but had always been clumsy throughout my life. I had a problem with speech but I had that problem since first grade and seemed to adapt and grow out of it.
My symptoms where extreme chest and arm pain. I had been retired almost a year when it started. The first time was during a visit to my sister in California. I thought I was having a heart attack and was dying. I was taken in and immediately put on an EKG. I had reason to be concerned as my Dad was diagnosed at age 40 with heart disease and died at 52.
The doctor probably thought I was a little loony. EKG showed nothing….. heart normal. After laying in emergency for an hour, the doctor asked me to go for a walk. We walked and walked! Up and down stairs, through the parking lot, around the nearby lake, we must have jogged almost an hour. I had no chest pain.
Doctor figured it must have been gas.
After that, the chest pains started coming on weekly and increased now to several times a day at present. It mimics a heart attack. Sharp extreme pain in chest that moves down each arm till you can just sit there, unable to raise your arms, talk, move or even breathe. It lasts anywhere from 5 minutes to 30 minutes.
As the pain frequency progressed so did the triggers. In the beginning it was physical labor. Carrying something heavy, walking far and fast, sweeping large areas or anything repetitious with the upper body. Eventually the physical labor included washing my own hair or walking the dog on a leash.
Next, the emotional triggers started. The first indication was a few years ago watching the NBA play-offs. I personally do not follow sports but was watching with a couple of fanatical buddies. As they cheered and hollered, being part of the gang, I chimed in. As the game got near the end of an exciting game I found myself sitting in a bathroom paralyzed by pain. As time went on my pains would start watching a good movie, during any lively discussion, when I laughed, cried, worried or thought hard with any emotion involved!
By this time I had been diagnosed with FA and I had been seeing Dr. Susan Perlman for the past few years. It was my brother and sister who encouraged all of us to meet at the convention in Las Vegas this past year. I got to admit I felt very uncomfortable attending after meeting several other people with FA. I felt guilty standing there and seeing the suffering by the younger people. My siblings and I were blessed with a later-in-life onset of FA.
The convention is where my wife and I learned a little about Idebenone. I must admit, my lovely wife is more up on FA then I! She takes very good care of me and is constantly consulting, researching and planning treatments with Dr. Perlman and my sisters.
My wife and I have a small business. We were to the point of having to close. I had not been to work in 3 months and had become ineffective.
In May my wife started my on 300mg of Idebenone daily along with a super shake I drank everyday that seemed to help. Upon starting the Idebenone I started having chest pains more frequently! I stopped taking it and returned from 5 attacks daily to 1 or 2 attacks. I waited to discuss this with Dr. Perlman in August before trying again. She assured us of the known side effects and the effectiveness of Idebenone. We tried again this time at 500mg a day. The first week was painful. Sitting in the bathroom started the chest pains. It seemed that getting out of bed started chest pains! I decided to hang in there a week before giving up again.
A week passed. By the following weekend we noticed a reduction in severe chest pains. My wife increased the Idebenone to 1000mg daily. Dr. Perlman’s recommendation is to work up to 2500mg daily. By the end of the following week, no chest pains! Last week with the assistance of my wife, I worked my upper body hard for almost 30 minutes! I started feeling the chest pains coming and quit what I was doing. I had pain for about 1 minute then it went away!! This was the first time in years and years. Last night, September 3, 2008, we decided to test it again. I worked my upper-body hard for over 30 minutes! No Pain! None! It seemed like it was the first time in my life, it had been so long!
I am blessed to be able to at age 50 walk, talk and still function in most day-to-day activities. I see my siblings’ struggle just getting out of bed and to survive on a daily basis. It seems the FA missed my legs and arms as it had attacked the others. I am still unbalanced, have tremors and my speech is a little slurred but I can still function in public without anyone noticing the FA.
Now for my uneducated opinion of Idebenone. In a blog the author stated:
“Idebenone and most other treatments tend to have the greatest impact on the heart disease associated with FA, not so much the actual ataxia part. I don’t currently have heart disease; ataxia (the loss of balance and coordination that is the hallmark of FA) is the main problem I deal with. Any drug I take probably won’t help this, and it almost certainly won’t reverse the damage that’s already been done to my nerves and spinal cord. But after living with this largely untreatable disease for 6 years, being able to take a drug that might do something is a welcome change.”
Call me crazy but from all I’ve read and studied the main cause of death from FA is the heart. With the dozens of stress tests, EK G’s’, ultra-sounds, having a camera wound through my body, you would think something would show up. My cardiologist as late as last week informed us that when damage happens, they will see it….makes since, huh? What he said next was the scary part. When damage happens with FA, is it gradual? Not always. What if during an episode you have catastrophic damage all at once? It may or may not lead to your premature demise. If Idebenone does not have any noticeable effect good or bad does that mean it won’t help to extend your life here on earth? My cardiologist is all for continuing the treatment.
I worry about my brother who has struggled with FA long before anyone even knew of FA. In his 60’s he has all the typical symptoms of the disease. In the past year he tells me of occasional chest pains. He has weathered years of mis-diagnosis and pain so this is no big deal to him. He’s always had a good demeanor and a great attitude. I just wish I could talk him into Idebenone. As with many of us the cost of the high dosage required is a factor for us.
For me at this point of time, Idebenone is heaven sent. Please research and discuss Idebenone treatment with your families and doctors.
By: Patrick Davis on September 4, 2008
at 1:27 pm
Thanks for sharing your story Patrick!
By: baliwhat on September 7, 2008
at 10:13 pm