I was diagnosed with late onset Pompe Disease in late 2018. Like many others I had been misdiagnosed, and traumatized by testing and guesswork for years. Once I finally knew what was making me so weak, and all my abnormal results finally created a full picture, I looked immediately for what I could to move forward and what the positives could be. So I'm going to share what keeps me going. First the silver linings on Late Onset Pompe.
- One thing I learned and probably the biggest light in our lives collectively, is that there is a treatment to slow the progression of the disease. There is no trial and error, we need the enzyme that our body lacks re-infused into our bodies on a bi-weekly basis to maintain our abilities and our lives depend on it. There are many neuromuscular diseases that have no treatments available, we are lucky, even though it is hard to feel that way on many days. Even more light at the tunnel, there are progressive treatments being developed like gene therapy!
- Even more suprising, researchers and pharmaceutical companies have shown incredible ethics and compassion, purposefully and generously towards our families and what we are going through, on a very personal level. Everything I have ever previously thought of large pharmaceutical companies like this I have had proven wrong triple fold. I thought fighting for my life would include fighting with larger forces and I am so grateful with companies like Genzyme and associations like MDA we are in good hands. They teach our practicioners, keep our providers on the same page, connect us as patients, and find us resources so we can focus on what we need to do in our lives. I was suprised to see also that the company Genzyme has had a legacy of compassion. A parent with children with Pompe has had a critical role in the creation of enzyme therapy from the start! He was a father who was also a lead developer and advocator for the therapy, trying to save his own children. You can even watch the inspiring story for yourself if you watch the movie "Extraordinary Measures".
- We are not alone, there is a great community worldwide connected through social media of people battling Pompe. This is a serious comfort because our disease us so rare we may have never been ever to share what is normal or not normal. We have friends who understand what we are going through, and even though this disease can get pretty dark, the community can celebrate small victories together. We can find out something that works for someone else and makes them more comfortable. We can hear about the people who are making speeches, raising money, designing tshirts. Or even something as simple as someone getting to do something they didnt think they would get to do, like taking a cruise, or getting to go back to their job.
Thank you for letting me share my story of what I do and think of to move on. Let's all keep going!
