For those who didn’t get screened as a newborn, the diagnostic journey looks much different.
The initial identification of symptoms is usually brushed off. They chalk up these symptoms to things like not being athletic, growing pains, puberty fatigue, or even just normal aging. As these symptoms worsen and it becomes clear that this may not be a normal deviation, they finally express concerns to their physicians.
If they are lucky, their physicians take them seriously and order things to look into the symptoms. If not, they are told they are lazy, need to lose weight, stop drinking, or are simply aging.
Most of these people get the first hint of confirmation through lab work. Keep in mind that Pompe Disease is so rare, the majority of providers are not familiar with it in the slightest. This means the correct diagnosis is not even on their radar most of the time. When the lab work comes back with elevated liver enzymes or elevated CK, and the physical limitations are considered, the list of possibilities are long.
Non-specific liver disease, cirrhosis, polymyositis, fibromyalgia, MS, Limb Girdle Disease, arthritis, asthma, Spinal Muscular Atrophy, Beckers, Lupus, and so many other disorders and diseases are incorrectly diagnosed. These patients are treated for these for years. Long, confusing, frustrating years of feeling in the dark and experiencing no improvement.
What they don’t know, is that during this time there is irreversible damage occurring inside their body. Glycogen is building up and affecting their physical abilities, breathing, swallowing, sleeping and many other things. “Time is muscle” is often what you hear in association with this disease because it’s progressive. Luckily, it is one of very few rare diseases that have treatment to slow that progression. The quicker they get to the bottom of what’s going on inside their body, the better the outcomes.
This is a great example of why awareness is so important. The earliest that any states began to screen newborns is 2013, meaning there are children and adults out there with this disease who have no idea. They are chalking it up to a magnitude of other things, getting misdiagnosed, feeling confused and frustrated. And their diagnostic journey could be a long and tiresome journey until a lightbulb goes off inside of someone who thinks to check the genetic route.
I’ve listened to their stories and felt an incredible amount of sorrow as well as gratitude. Their stories anger me and remind me how fortunate we are to have learned so early. It could have gone so differently.
I will scream this disease from the rooftops in hopes that someone on their own diagnostic journey can remember hearing it and suggest it for consideration.
In hopes that every state will screen their newborns.
In hopes that healthcare providers will know about it and be able to identify it’s criteria.
In hopes that no one else is dismissed and that progression is slowed as soon as possible.
No person deserves to find out late when it’s possible to learn early. I hope this type of journey will be a thing of the past and that treatment is never delayed for another person. I pray that all they have been through brings change for the future of this disease and that they can feel some peace in knowing their stories made a difference.
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