There are lots of things you want to pass down to your kids:
- Intelligence
- Athletic ability
- Creative talent
- Amazing good looks
Pompe disease isn’t one of them.
Pompe disease occurs when glycogen (a complex sugar) builds up in the body’s cells. The overabundance of glycogen impairs muscles, and affects certain tissues and organs.
There are three known types of Pompe disease and each differs in how severe the symptoms are, and at what age symptoms initially present. They are:
- Classic infantile-onset
- Non-classic infantile-onset
- Late onset
A baby born with infantile-onset Pompe will typically:
- Fail to thrive
- Have weak muscles
- Have heart abnormalities
- Have respiratory issues
Untreated, the baby would perish from heart failure by age one. That’s why it’s important to get a diagnosis as quickly as possible, and to get on a treatment.
Non-classic infantile-onset Pompe disease generally manifests itself by the time a baby is one year old. That baby will usually:
- Have problems rolling over and sitting up
- Have weak muscles
- Heart abnormalities
- Breathing problems
- Muscle weakness
The severity of the muscle weakness may cause the baby to die in early childhood. Again, that’s why we can’t stress enough the importance an early diagnosis and early treatment.
Finally, late-onset Pompe disease can occur at any time in a person’s life and is the least severe form. Loss of muscle function is gradual, and weakness is progressive. The worst-case scenario is the patient suffers more and more serious breathing problems because the muscles that control breathing become so weak.
It’s estimated that 1 in 40,000 people in the US are affected by Pompe.
However, it isn’t all doom and gloom!
For one thing, you can see get your baby tested to see he or she are at risk for Pompe. Baby’s First Test is a fantastic resource if you’re interested!
If your child had Pompe, fear not! There is plenty of on-going research trying to find out more about this disease, and how to treat it.
Pharma company Sanofi and its specialty care company, Genzyme, recently presented data on an enzyme replacement therapy that is showing great promise. The new drug will be used to treat late-onset Pompe.
Pompe disease is heartbreaking. Share your thoughts with the PatientWorthy community.
