It is international Pompe Day!
“Together we are Strong”
Today is meant to help create awareness for the Lysosomal Storage Disorder Pompe Disease, which is both rare and underdiagnosed.
Pompe Disease can occur in two forms, Infantile and Late Onset. As the name suggests, symptoms for those with Infantile Pompe Disease are present in infancy. These symptoms include hypotonia, cardiomegaly, respiratory infections, difficulty eating, and developmental delays. Late Onset Pompe Disease(LOPD) can present at any time but does not typically have the cardio involvement that Infantile Onset does.
Current treatment for Pompe Disease is ERT(Enzyme replacement Therapy), an IV treatment that provides patients with the GAA enzyme that they are lacking. This helps to clear the glycogen that accumulates in the muscles. Interested in learning about the history behind the development of treatment for Pompe? Check out this blog.
Typically, the earlier treatment begins for Pompe the better the outcomes, however, many people are not diagnosed when their symptoms begin. Newborn screening can help improve this issue(unfortunately, newborn screening for Pompe is not on every state’s panel). People with LOPD are often not diagnosed until years, sometimes decades, after their symptoms(muscle weakness, GI issues, difficulty breathing, gait abnormalities, tight joints) begin.
I had the privilege of being a guest at the Late Onset Pompe Disease meeting in Durham last weekend.
I’ll let Duke relay their own data regarding their studies, and I won’t retell any patient stories without explicit permission, but I’d love to share a bit of my experience at the event.
I typically don’t like to generalize but this patient community is compassionate, resilient, close-knit and kind.
The attitudes at this event were incredible. People living with LOPD are impacted by it daily but refuse to let Pompe take over their lives. They’ve adapted and found ways to conserve their energy in their daily life. They may have to plan a little more before going somewhere, calling ahead to check on the stairs and parking situation, ordering groceries online to save energy, but they’re still going. As the disease progresses, many people are simply finding alternate ways to do what they used to. An attendee quoted Jersey Shore’s Snooki in saying “ We can still party like we used to, we just can’t recover the way we used to.”
Some take-aways from last weekend for those living with LOPD( Disclaimer, I have neither a MD or a PhD, these are just general notes)
Take a holistic approach to your health.
Put thought into your diet (make an effort to increase protein intake and decrease carbs) and incorporate exercise. On that note, though it’s something most people struggle with regardless, try to maintain a healthy weight. Weight can of course be harder to lose for anyone who has some trouble moving. Look into adding calcium and vitamin D supplements to help decrease the risk for osteoporosis.
Talk to other patients! Whether that is via facebook, email, phone, or in person, talking with someone else who can fully understand what you’re going through can foster some much needed solidarity and prevent the isolation that so often comes with rare disease. Check out the facebook group Cure Pompe Disease and if you are a patient, the parent of a patient, or a caregiver of a patient you can be directed to private facebook groups. These groups are a place to share experiences, ask advice, and find support.
It’s recommended that patients with LOPD undergo a sleep study. Respiration can be difficult when lying flat on your back and a sleep study can determine if you could benefit from a bipap machine. Some indications that you may benefit from one are things like daytime fatigue, headaches, and a noticeable decrease in sleep quality.
Pompe is a systemic disorder…its effects are not limited to skeletal muscles. Its other components (such as GI involvement) should be recognized and treated. Talk to your doctor about all of your symptoms, not just the primary ones; your overall quality of life is important.
Advocate for yourself. You know your body best and you deserve good care. Your health care team should be listening to you and your concerns or confusion and helping to guide you through them with accurate advice.
Besides facebook where else can you go for support and information?
To start:
The Acid Maltase Deficiency Association
International Pompe Association
Amicus (they have a more extensive list of resources here)
“Strength does not come from physical capacity. It comes from an indomitable will
.” – Mahatma Gandhi
