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  • Writer's pictureChristine McCarty

Addy’s Genetic Disorder

A couple of years ago, we decided to get a full genetic make-up of Addy. We thought it was best to try and understand any and everything that may be going on with her. We did what they call a whole genome sequencing test.


Whole genome sequencing (also known as full genome sequencing, complete genome sequencing, or entire genome sequencing) is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a single point in time. Whole genome sequencing has largely been used as a research tool but was being introduced to clinics in 2014. In the future of personalized medicine, whole genome sequence data may be an important tool to guide therapeutic intervention.


When we received Addy’s results, we were notified that she has, Adenosine monophosphate deaminase 1 deficiency (AMPD1). According to the National Center for Advancing Translational Sciences, “AMPD1 deficiency is an inherited condition that can affect the muscles used for movement (skeletal muscles). Many people with AMPD1 deficiency do not experience any symptoms. However, people with AMPD1 where symptoms do manifest often experience muscle pain (myalgia), cramping, and weakness after exercise. They are also known to get tired faster than others. Some affected people appear to have more severe symptoms. AMPD1 deficiency is caused by changes in the AMPD1 gene and is inherited in an autosomal recessive manner (in other words, their parents can pass the gene even though they do not experience symptoms).


We were shocked and relieved all at the same time. Relieved because nothing else was found, but shocked as well as scared that something was discovered. We are only in the early stages of understanding this disorder as well as how it affects her. As we find out more, we will update and share any progress/helpful information.


Lastly, I bring this up as if you are considering doing this test, I highly recommend it as it is another piece of the puzzle that can potentially yield answers and potential treatment ideas.


Much love,

Raising Addy

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