Pompe disease is one of many diseases that is considered rare because it’s known that just 1 in 40,000 have it. When we talk about rare diseases, I believe that a person living with a rare disease has a different perspective of rare diseases than someone without it. As such, I know why it’s so important to spread awareness because even though Pompe is considered a rare disease, it’s a rare disease that has treatment available.
Spreading awareness for something that can be treated means saving lives. And that also extends to other rare diseases. What many don’t realize in the medical world is that many diseases are compared to each other. When they fall under the same category, it can benefit the possibility of treatment.
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Pompe disease is related to muscular dystrophy (MD), which is a group of genetic disorders that causes muscle weakness. If one was to look up the types of MD disorders, mine would be acid maltase deficiency, which is another name for Pompe disease.
When I was first diagnosed, I didn’t know anything about it, and I didn’t care enough to learn anything about it or even take it seriously. That’s something we can’t let happen to others who are newly diagnosed. Especially kids. A child who is diagnosed with late-onset Pompe around the age of 12 or 13 is smart enough to learn about their health and old enough to start taking control of their health.
Today, we have the best tools available to help spread awareness. We have smartphones and effective social networks. Sharing your story in a simple video or post can reach millions of people across the world, and I know because I see it being done every day. I am certain that there are so many people worldwide dealing with symptoms and struggling to understand what’s going on with their bodies. Spreading awareness helps with diagnosing.
Pompe disease has come a long way over the years with research and treatment. I am so excited about future treatment and resources that are becoming more available. I recently attended a meeting with other rare disease patients that our case manager put together, where I learned about all the available options we have for treatment and disease management.
I have yet to make it to a Pompe conference because of the travel, but I recommend attending them. That kind of support is needed, and with everything changing in medicine and technology, it’s important to stay connected and learn of new treatment options because I can almost assure you that your doctors do not know as much as you need to know about Pompe.
The best way to spread awareness is by first learning as much as you can and then being open about your health. This can be a challenge for many people because it’s not always easy talking about your struggles, and with Pompe, the conversation can lead to talking about the loss of strength and the things you can’t do anymore or now struggling to do.
These are conversations that can actually benefit others because it leads to solutions. I am doing better with managing my health because of the conversations I’ve had with others with Pompe. Not once have I gone to my doctor about any Pompe-related issues because that would result in logical medicine, and there’s nothing logical about our health.
