Pompe disease was discovered in the early 1930s when infants died months after birth from weak hearts. It was eventually determined that the later in age it is diagnosed, the longer the life expectancy of the patient.
As with many other rare diseases, Pompe treatments are showing promise for the near future. I started the Lumizyme® infusion, which is the treatment for late-onset Pompe disease, in 2016. Moving forward, I think the big question is “Does the treatment work for you?”—instead of “does the treatment work?”
I’ve seen a few people that decided to stop taking it because it wasn’t working for them or was actually making them sick. Physicians push for medicine, which can be a good thing, but I think physicians sometimes focus less on the patient and more so on the patient’s outcome. In other words, what works for one patient may not always work for the next.
I can say Lumizyme treatment has had a positive outcome for me personally. I have become stronger and it’s definitely keeping me at a stable level. My only concern is that it will reach a point where it could stop working. I have heard that has happened with some people who have been on the treatment longer than I have. I think this could be the reason why new medicine is being aggressively researched and gene therapy is in the works for treatment down the road.
Read more about experimental therapies for Pompe
The future of effective treatment for Pompe disease, in my view, is encouraging. That said, there is always the possibility that it won’t have the same positive outcome for everyone with Pompe disease. Already, there are 3 classes of treatment emerging for different stages of the disease. And that sets the stage for varying levels of success depending on the patient’s Pompe disease history.
I started treatment for the first time in the summer of 2016. I remember it like it was yesterday. After being told of the possible side effects, I was a bit terrified and because my doctor couldn’t ensure me whether it would actually help me or not, I definitely wasn’t excited about it. I just knew my body was deteriorating.
One setback took me down far. My immune system was terrible and getting something as simple as a cold was extremely hard to fight. I knew I had to break down and start treatment, or I was going to get weaker soon. So on my first time, it was an overnight hospital stay. I was tested and closely watched over by nurses all night.
I was scared because I knew I was going to have a bad reaction. I think everyone can say when they first received an antihistamine shot through a syringe into an IV it scared them because it presents a strong and fast rush of drowsiness.
Fast forward to the next day when I woke up in the hospital. I felt good. I was a little bit more energetic. That was when I realized I made a really good decision because the treatment had a positive effect on me.
After a few years, I have to admit I don’t get the same feeling I did after my first treatment. I’m not stronger or weaker; that to me is a good thing. All I need is to keep my health and strength stable, but I do believe that future medicine will do better than just keeping my health stable but actually making me stronger. It might be a stretch to say that a cure is coming for Pompe disease, but something close to it may be possible.
With medicine along with medical equipment and technology, we have a great chance of longer and healthier lives for those with Pompe.