An Update on Allena With Pompe Disease

June 15, 2013

Read my first story here.

My name is Allena, and on April 19, 2011, I became extremely sick.

I immediately went to the doctor and he provided me with some medication, with the hope I would start to feel better. He suggested at that time, that if I did not improve, I would need to have an MRI and some blood work.

As suspected, I ended up having several MRIs and was referred to a neurologist. Based on my results, my primary care physician and neurologist discussed having me undergo a muscle biopsy prior to doing any nerve tests. Once I completed the muscle biopsy, I was sent to the University of Utah to have further blood tests.

Some bad news came back to me when I tested positive for Pompe disease on October 10, 2011. Pompe disease is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be identified, in 1932 by the Dutch pathologist J.C.Pompe.

Although my neurologist, IV clinic and pharmacy were unaware of how to treat Pompe disease, I was fortunate to have Genzyme, the drug company which supplies a Pompe drug called Lumizyme, come to St. George, Utah, and train everyone on how to administer my treatments.

I have had a few treatments so far and hope to start feeling better soon.

I have hope in my genes!

Stay Connected

Sign up for updates straight to your inbox.