This week was a strange one. As some know I’ve been on a major crunch at work. It’s been almost a year into a project and made my presentation on Friday. For the week, I was on a jobsite which is less than convenient for someone like me. It was cold, lots of walking, and nothing was comfortable. This was going to be my last push before I go back to my comfortable office setting.
Ironically, I got out of my presentation Thursday and felt fantastic. Pretty much nailed it and it was just a giant sigh of relief. I went to check my phone and had missed a phone call from my doctor. I’ve been waiting since my diagnosis for my gene testing to come back. I really didn’t know what to hope for. If it came back blank it didn’t mean I didn’t have ALS it just meant I didn’t have the gene. If it came back with an abnormality there was more hope to treat in the future and a solid diagnosis so I could get into trials. In the back of my mind I’ve just been hoping its celiac gone wild. I’m only a month or so into gluten free and feel a bit better. I know that my body should be regaining its ability to process which is great.
The troubling part out of all of this was if it was genetic my kids could be dealing with the same issues hopefully far down the road. Well the call confirmed that I have the SOD1 gene abnormality which is familial. Hopefully by the time my children ever have to deal with this there will be a cure but it’s my youngest sons birthday this week. I haven’t really broken down throughout this process but I broke hard. For me it gives me hope and SOD1 is basically what all ALS research is built around. Per my wonderful doctor this is the gene abnormality they could have an answer for in a few years. Now I’ve been around ALS long enough to know they said this 10 years ago, but I’m keeping that hope in my back pocket. On the other hand, what and when do you talk to a child about this.
When my father was diagnosed, there was little known about the disease and no gene testing period. It was the dark ages of ALS research and all I knew is it was rare. Now I know my children are carrying a coin flip of having this gene. It pretty much floored me and I don’t know how to deal with it. I’ve felt like I was being strong but this is different. This doesn’t involve me or my wellbeing. We are going to talk to the kids soon and that scares me enough but I know the kids are going to investigate the disease further. I can’t imagine what will eventually cross their minds or if they will even comprehend it. It’s made the weekend tough.
I joined my wife out of town Friday and we had a nice night in Pinehurst but I just felt out of it. It felt great to get out but things are so crazy right now. To be honest my health is bipolar right now. One minute I feel great and better than I have in years and then the next hour I feel total weakness. I’m not talking weakness like after walking a mile I’m talking almost paralyzing weakness. My right leg has begun to cramp and have fasciculation’s much like my left leg did but it seems to be going so much faster than before. I had developed in my mind that I had 2 years before I’d lose my other leg. I’m blessed to not have many upper motor problems but it scares me to think I could be in a wheelchair soon. Pardon my language but it just scares the hell out of me. I’ve always been independent and losing the ability to walk, drive, etc. is my greatest fear. I think I fear that moment more than dying. Death happens to everyone but taking away the rest scares me.
Everything has just become so much more “real”. I feel like my coordination is better now and my PT says my strength is up but I just feel different. I’m trying to focus on the measurable things I can instead of “feelings”. I haven’t fallen in what seems to be months. For a year, I fell all the time. I could just be cooking and collapse. It all stopped when I changed my diet and overall I just feel more coordinated. Then I try to walk into an appointment and feel like after ten feet I can’t make it to the front door. The fear almost feels paralyzing. The weakness is just so random and the cramping scares me to death. My kids bought me a walking stick for my birthday last week and while I hated the idea of using it this week I’ve needed it far too much. I probably should have been taking it far easier on the other leg but just didn’t know better. Now it just feels too late.
The thought of clinical trials is exciting though. A few were brought up and I’m more than willing to try and help if it never brings a cure for me. Some of them do look promising though. That’s part of the highs that I’ve had. My goal for the week though is to make more highs and less low’s. All of this gets overwhelming and I have to learn to focus on the important things more!