People who are affected by Pompe disease have problems breaking down a complex sugar called glycogen. This affects the skeletal and heart muscles. Severe forms of Pompe typically present within the first few months of life with muscle weakness, poor muscle tone, and in some cases, heart failure. People may also experience feeding problems, failure to thrive and breathing difficulties. Severe forms of Pompe disease are often fatal in infancy and early childhood due to heart or breathing problems.
Individuals with milder forms of Pompe tend to have a later onset and slower progression of symptoms, with little to no heart muscle involvement. Early initiation of enzyme replacement therapy may delay the onset of the symptoms and reduce their severity.
As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.
glycogen storage disease type II (Pompe disease) is known as an autosomal recessive condition. For autosomal recessive conditions, if a person has a variation in one copy of their gene, they are a carrier. This means that they are healthy because they also have a working copy of the gene. But, they can still pass their non-working copy to their child.
If the other parent also happens to be a carrier of the same gene, there is a 25% (1 in 4) chance that they both pass this gene variation on to their child — and as such, have a child affected by the condition.
If both parents are carriers of glycogen storage disease type II (Pompe disease), there's a one in four chance that their children could develop symptoms.
Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic condition in your child. Eugene offers an inclusive genetic carrier screening panel that includes glycogen storage disease type II (Pompe disease), but there's a total 301 conditions that can be tested.
Eugene's carrier test is a clinical grade test that can be done from the comfort of your own home — it's just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.Learn more about carrier screening
The biggest benefit of screening for glycogen storage disease type II (Pompe disease) is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic condition is low.
Since 90% of children that have a recessive genetic condition like glycogen storage disease type II (Pompe disease) had no previous family history of it, it often feels completely out of the blue for the parents. Getting screened is a way to know this risk in advance, which can help familes manage or even prevent the condition in the first place.