“My name is John Pollman and I just turned fifty one years old. I've pretty much been a healthy person my entire life. Ten years ago, I fell and seriously broke my left shoulder and had to have pins inserted for a month for it to heal. I healed up very well and had no lasting issues. A couple years later, I blew out my right knee and had to have arthroscopic surgery twice on it. Again, it healed up well. Four years ago, I fell again and seriously broke my right shoulder. This time I had a titanium plate and ten screws permanently installed to repair it. I came through it very well and have great range of motion and no problems.
About three and a half years ago, I went to my orthopedic surgeon because my knee was starting to bother me again. He did and exam and noticed that I had some weakness in my quadriceps. He said that he has seen my knee twice and it is healthy with no arthritis. He said that the weakness in my quads was causing the knee pain. He had a feeling something was wrong so he told me to go to my family doctor and get a complete physical. I made the appointment when I got home.
The following Monday afternoon I had a complete physical. My doctor noticed some twitching in my quadriceps and he ordered an EMG for my legs. I went in early Thursday morning and had the EMG. The doctor doing the test was just supposed to check my legs. But when he was done with my legs, he asked me to turn onto my side. He stated checking my back, neck, and arms. He just said, “I'm seeing something, but I'm not sure. Go home and I'll give your doctor a call. He'll call you with the results.” I was home by 9:00 a.m. from the test and because it was Thursday, I figured I'd get the results Monday or Tuesday. Two hours later my phone rang. I answered it and it was my doctor's office. The girl just said “doctor needs to see you ASAP. Can you come in at 8:30 tomorrow morning?” I said yes, but was a little concerned with the urgency. She didn't even bother to tell me to bring my wife with me.
The following morning I went to my doctor's office. This place is notorious for having you show up on time for your appointment and having to wait as much as an hour before you even get in to see him. I walked in and there were three or four other people in the waiting room, I signed in and the girl behind the counter saw my sign in and said “Oh, Mr. Pollman, come right back.” This is when I knew that something was up. I sat down in the exam room and the doctor walked in a couple minutes later. He laid it right on the line. He looked at his chart, and then at me and said “John, from the results of the EMG, it looks like you have Lou Gehrig's Disease. And if that's the case, there's nothing anyone can do about it.” Practically his next words to me were “I have to get you to a neurologist ASAP to confirm it.” All I can say is that I went numb from head to toe. My doctor just told me that I had about two years to live, and I wasn't going to be pleasant.
I got to a neurologist on Monday. He did a complete workup and asked me to get dressed and then said for my wife and I to meet him in his office. We sat down in his office and he walked in shortly thereafter. Again, he looked at his chart and then a me and said “John, I can't be certain, but I don't think you have ALS”. I felt like the weight of the world had been lifted from my shoulders. They did a bunch of blood work and said they would contact me to come in for the results. About a week later, my wife and I went to see him again. He said that the results were inconclusive, but he still didn't think that it was ALS. He then set me up with a neurologist who specializes in ALS.
It took a month, but I got in to see the ALS specialist. He said the same thing after his exam, he didn't think it was ALS. That is when he brought up Late-Onset Tay-Sachs (also know as LOTS). I had heard of Tay-Sachs, but it's a rare childhood disease. He said that in twenty years in the specialty, he's only seen two other cases of LOTS. But he was going to check for it anyway. I figured I was in the clear, that sounded pretty rare.
About three weeks later, I got a call and he told me that I did not have ALS. But I do have Late-Onset Tay-Sachs. I was overjoyed at first, and then terrified again. He then said that this disease is no walk in the park, but it's MANY times better than dealing with ALS.
Tay-Sachs normally only affects infants and children. There is no cure and no treatment, and it's 100% fatal. Infants usually don't live past three years old, and juveniles, maybe early teens. Thankfully LOTS isn't generally fatal, but it is degenerative and progressive. I can't climb stairs anymore, it's very difficult to get up from a seated position. I get around with a cane for now, but I'm probably headed for a wheelchair. I am one of only about a hundred confirmed cases of this form of the disease. Ever!
I am currently participating in two research studies for Late-Onset Tay-Sachs. One at the University of Minnesota, Minneapolis and the other at the National Institute of Health In Bethesda, MD. Thing don't look good, but I refuse to give up!”
For those unfamiliar with Tay-Sachs or Sandhoff Disease, they are rare inherited diseases that affect the central nervous system (the brain and spinal cord) which controls how the body functions. Sandhoff disease is a severe form of Tay-Sachs. Both are typically found in babies, but there is juvenile and adult (Late) onset as well. Those with Tay-Sachs have none or not enough of an enzyme (protein) called hexosaminidase A. Those with Sandhoff disease have no hexosaminidase A and hexosaminidase B enzymes. Both enzymes break down fatty substances in cells, including brain cells. Without enough of these enzymes, fatty substances build up and slowly destroy brain cells, until the nervous system stops working. Please share this blog to educate the public and show support for John Pollman, one of the strongest and compassionate men I know, and his fight.