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As a young woman with Pompe disease, I can look back at everything I’ve been through and say I wouldn’t have overcome so many challenges without my parents. When I was diagnosed as a child, I was living with my dad and I really had no choice but to be strong and never let my disability stop me from doing what I want.

Now that I’m living with my mom, she’s more nurturing and allows me to have more freedom in decision-making. When you have a rare disease, whether you’re disabled or not, your parents play a big part in the way you grow and live with your disease. I consider myself very lucky to have both my mom and dad from the start of my diagnosis, even though I never had them together at the same time, their opposite personalities molded me. 

While millions of people with a rare disease are very independent, the support and help from our parents are always needed. Literally, everyone I know with a condition or illness has expressed how much they rely on their parents or parent. I had a friend that was very independent and a single mom. She was diagnosed with stage 4 cancer and I just remember her mom being there for her through everything.


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Not everyone has a good mother or father who is well enough to be there for us. I think that’s something physicians do recognize about their patients. Support from our parents is critical no matter how old we are. I think at some point in our lives we get lost or stuck trying to be strong because being independent and healing by ourselves and without any support just seems like the best way to go but it’s definitely not. Nothing beats having a support system, especially one like your parents. 

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I learned a lot from my dad. When I was a little girl he handled all my business, including managing my healthcare. But as he got older and began struggling with his health, I had to step up and manage my own health care. That meant making my own doctor appointments, handling my medication, and not having him there with me at doctor appointments. It was a big change but it was necessary. I was lucky to have my dad at a young age to go through the beginning of my illness. But I’m even luckier to have my mom now in my adulthood. She gives me support without a doubt.

My dad challenged every decision I made by asking so many questions and giving his opinion. I think it made me really think more about something before going through with it. He always considered my options and got second opinions from doctors. My mom never questioned my decisions when it came to my health but she definitely suggested options on how to get stronger and healthier and push me to stay healthy.

When I had a surgery that was a personal choice the recovery was draining and there were many times that I just didn’t wanna do anything but stay in bed all day, thankfully she made me get up and get my strength back. 

Many people with rare diseases can choose to be independent but I have Pompe and while some people with Pompe can actually live a pretty independent life, my case will always be different. 

I will never be fine with not having the ability to be fully independent. But I am grateful for my parents, who I’m watching grow old while I age beside them. It’s not a worry that my parents will one day have to leave me, it’s a blessing that I’ve grown and matured and have been loved and supported by 2 great people. 

I hope everyone knows what unconditional love and support feel like. I know I do.