I Have ALS, And I Can Live With That

I have been diagnosed with Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s disease. My mother died with this disease in 1983 when she was 58, and I participated in the ALS Ice Bucket challenge in 2014 and 2015 as a result. I had no idea at that time that she had likely passed me a mutation in one of my genes that is the cause of my disease. This progressively degenerative disease, which destroys the motor neurons that the brain uses to send messages to muscles, still has no cure though a lot has been learned by science since my mother suffered from this.

Despite this diagnosis being essentially a death sentence, I remain optimistic. That’s because science is working quickly, and the progression in my body is slower than average. I am receiving excellent care with a combination of a terrific doctor at the George Washington Medical Center, plus good relations with the Healy Center at Massachusetts General Hospital and at the National Institutes of Health. I remain encouraged that my ALS has a reasonable chance to be truly treated, rather than just a delay of the inevitable.

Known Cause, And Current Approaches

There are many forms of ALS that still have no known reason for happening. As a result, almost all care for ALS patients to date has been palliative - making people comfortable as they gradually lose use of their skeletal muscles. I am fortunate, in that my ALS is the result of a known mutation in one of my genes. I say fortunate, because since this cause is known, science can focus on fixing what they know. There is a lot of work focused on addressing the few known, gene-related causes of ALS.

There are now three medications approved by the FDA for this disease. None cure the problem, but each slows down the rate of body progression to some degree. Combined with my natural slow rate of progression, these drugs aid my optimism that my body will hold out for a real cure. I also completed an encouraging clinical trial using the drug LAM-002. The gene mutation in my body produces a lot of toxins that ultimately destroy the motor neurons. The LAM-002 trial was testing to see if this drug can super-charge the body’s waste system well enough to destroy most of the toxins produced, before they can go on and do their damage. Results from the initial trial were very positive, and AI Theraputics, the company with this drug, is continuing to supply it on a compassionate basis to the few of us who participated in the 2022 trial.

I lost weight as the muscles in my arms and legs have shrunk. I have to consciously take in enough calories because the medications I take have a side effect of sapping my appetite. As someone who never had a problem eating, this is especially odd for me. My voice gets tired as the day goes on and so when I need to talk clearly, I try to schedule it in the morning. That said, I remain as a co-host on the weekly Airlines Confidential podcast, and longer time listeners have probably noticed that my speech is a bit slower and some enunciations are difficult for me.

I also am using some low-tech approaches. A simple but ingenious splint device called the Oval-8 keeps my fingers straight as I sleep, slowing the rate at which they would naturally curl and stiffen. I have been fitted with brace for my left foot, which slips into any shoe and ensures my foot won’t drop and create a trip. I recently was fitted for the same kind of brace for my right foot. For common things like buttoning, flossing, and more, there are many things available to make these easier. That’s because many diseases, including arthritis, cause some people to need help in these areas. I have recently moved from a cane to a walker for stability as I walk, and we bought a box spring that isn’t quite as tall. This lowers our bed a few inches, making it easier to get in and out.

I also have consciously chosen to walk slower. Remembering the simple physics formula I learned in high school, Force = Mass x Acceleration, I realized that tripping is a definite risk for me. Since my mass is pretty much constant, all I can control is my acceleration. If I am walking quickly and trip, that will create greater force and could lead to broken bones or serious scrapes. By slowing my walk, I reduce the force that will impact my body if I trip, thus reducing the likelihood of any serious damage. As someone who has always walked quickly, this is a mental challenge for me.

True Gene Editing?

Since reading the terrific book The Code Breaker, the story of Dr. Jennifer Doudna, I got excited that perhaps current techniques could just cut the mutation right out of my genes. Well, science is fast but not that fast, and the ideas in that book aren’t ready for this disease yet. Still, there is encouraging work related specifically to the gene mutation that causes my ALS. I hope to be part of a study that will attempt to directly address this ALS-causing gene mutation. There has also recently been work on using the CRISPR technology to address the specific gene mutation I have. That idea is still likely years away, however.

I feel like I am in a race: can science figure out how to address a specific gene-editing protocol while my body can still benefit from it?

Very Supportive Family

My family, both immediate and extended, are super supportive. At home, neither my wife or son presume I can’t do anything, yet are there to help if needed. When it takes me a bit longer to get ready than it used to, no one complains or asks me to hurry up. Most importantly, both are interested in my care, have learned a lot about this disease and its progression, and still expect me to play my roles as husband and father.

My brother and sisters of course saw my mom’s dealings with her ALS. They are encouraged by how much has been learned since the early 1980s, but also still realize that a disease with no cure then is still just that, about 40 years later.

Compassionate Work Support

My business life today is a portfolio of board service, teaching, writing, and podcasting. This has me involved with several companies in various roles, including the public boards of JetBlue Airways and Six Flags Entertainment. Without exception, the people I work with have been extremely supportive, offering support needed to accommodate changes as they may happen. I cannot predict the future and while I am confident of the medical approaches to this problem, I also know the relentless persistence of this disease.

There may be a point that I have to pull back some or completely from this kind of work. Keeping communication lines open with those who employee me today is the key to managing the relationships well, and I will inform them as things evolve.

No Matter What Happens, I Am Ready

I remain confident that I could be cured from this disease, even though I would be among the first. If this form of the disease had hit me five years from now, I would be even more confident that science would know how to address it. The dual approach of “slow the problem, then address the root cause” is logical to me. That said, I can’t predict how quickly my body will change or the speed that science will move.

Remembering my mom’s ALS is a stark reminder of what this disease can do. When I visit my local neurologist, who is excellent, I sometimes see patients in much more advanced stages of this disease and this, too, reminds me of what will happen without intervention. So while I enjoy an active life today, I am not blind to the realities of what ALS does to the body. I ask for help when needed, and have been quick to welcome things that make day to day living easier, like my foot braces and walker.

As a college student, I remember thinking that ALS was an especially cruel disease because my mom, always a very curious and intelligent person, knew exactly what was happening to her body but could do nothing to stop it. I now have revised that view, because it is exactly my curiosity and drive that push me toward real solutions and look for ways to not just survive, but to win. That is why I can be truly optimistic, because as long as there are people looking to solve a problem, eventually I believe it will get solved.

But if my body cannot hold out until science has a real cure, then I will just do what I can. I will be sure that my wife and son are cared for in the best ways I can manage, and I will try not to leave problems behind that I could solve now. Most importantly, I will be honest with myself, my family, friends, and colleagues.