Infant With Pompe Disease has to Travel 220 Miles to get Treatment

According to a story from birminghammail.co.uk, eight month old Archie was diagnosed with a serious rare disorder called Pompe disease. With his life in danger, the infant faces 220 mile trips every couple of weeks from his family’s home in Bodwin to Birmingham in order to get essential treatment that will keep him alive. Jack, who is Archie’s dad, says that they were immediately concerned about Archie when he failed to put on weight, had problems with feeding, and wasn’t reaching his developmental milestones.

About Pompe Disease

Pompe disease, which is also known as glycogen storage disease type II, is a genetic, metabolic disorder. This disease can cause damage to the nerves and muscles throughout the body, and is the result of the excessive buildup of glycogen in the cellular lysosome. This occurs because of the deficiency of a certain enzyme. The disease is the result of a genetic mutation that appears on chromosome 17. Symptoms of Pompe disease vary depending on when it appears. They can include poor growth, trouble feeding, enlarged heart, poor muscle tone, muscle weakness, and breathing problems. There is also a late onset form that mostly differs by the absence of heart abnormalities. The primary treatment for Pompe disease is enzyme replacement. While this treatment can improve symptoms and survival, a high dosage is necessary and it primarily only halts disease progression. To learn more about Pompe disease, click here.

Archie’s Story

Doctors were at first hesitant to admit that something seemed wrong, but after a series of tests it was clear that something was off. Most of the doctors were completely unfamiliar with Pompe disease, and only a more specialized test was able to give the diagnosis. While Archie generally seems to be in good spirits, Jack and Archie’s mom Tamika are hoping that he will respond well to treatment. 

Another concern for the family is the need for constant travel for the baby’s treatment. While it may be necessary for the family to eventually relocate, the family are hoping to eventually raise a little cash to help cover the travel costs that they currently face. 


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