Campaign Story

Our names are Laci & McCoy we are carries of pompe disease & autism. For those who may not know, late on set Pompe disease is a rare genetic, and potentially life-threatening neuromuscular disorder that causes muscle weakness and respiratory impairment. It’s the most common type of Pompe disease, which occurs in about 1 in 40,000 births. LOPD is caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), which prevents the body from breaking down glycogen, a stored form of sugar that’s an important energy source for muscles. This leads to a buildup of glycogen in the body’s cells, particularly in the heart and skeletal muscles.
a genetic myopathy causing skeletal muscle weakness and severe respiratory impairment, due to the deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA) leading to lysosomal glycogen accumulation along with other complex pathophysiological processes.

Symptoms of LOPD can include:
Muscle weakness, especially in the muscles used for breathing and walking
Delayed motor skills
Difficulty breathing deeply or when lying down
Difficulty climbing stairs
Difficulty maintaining balance while walking or standing
Inability to stand from sitting
Ocular abnormalities, such as eyelid ptosis, strabismus, and ophthalmoplegia

Our first born son has to get Infusions every two weeks for the rest of his life without them he would basically become a vegetable except mentally which would be the worst part because he would know that he was once able to do things and now can’t but thankfully the infusions works so he pretty much as no symptoms of the Pompe because he started treatment so early but with that and him being nonverbal level 3 autism and 99% sure adhd we don’t wanna risk putting that on another child