A little about this mystery disease they have finally diagnosed me with!
Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.
The late-onset type of Pompe disease may not become apparent until later in childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart. Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.
Pompe is a Lysosomal Storage Disease and also a Glycogen Storage Disease.
Lysosomal Diseases
Lysosomal Storage diseases are inherited genetic defects which result in an enzyme deficiency. The usual effect of this is to prevent the lysosome in the cells of the body from performing its natural recycling function, and various materials are inappropriately stored in the cell. In some of the diseases the enzyme may be present but there are problems with transport of the enzyme into the lysosome, but often causing a similar set of problems.
The diseases lead to a variety of progressive physical and/or mental deterioration over time. Some of the diseases may present in a "mild" form, and others with a more severe impact on the patient. Some patients survive into adulthood, but others with more severe symptoms may die in their teens or earlier.
There are currently more than 45 conditions which come within the category of Lysosomal Storage diseases. There is speculation that many other conditions may have lysosomal storage as their base cause, but the evidence of this is yet to be established for up to 50 other rare conditions.
Lysosomal diseases also exist in atypical forms which may exhibit very different symptoms from the typical form. In the typical form the enzyme will be at very low or undetectable levels, leading to the full set of symptoms, even though these symptoms may present to a mild or severe extent.
The late-onset type of Pompe disease may not become apparent until later in childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart. Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.
Pompe is a Lysosomal Storage Disease and also a Glycogen Storage Disease.
Lysosomal Diseases
Lysosomal Storage diseases are inherited genetic defects which result in an enzyme deficiency. The usual effect of this is to prevent the lysosome in the cells of the body from performing its natural recycling function, and various materials are inappropriately stored in the cell. In some of the diseases the enzyme may be present but there are problems with transport of the enzyme into the lysosome, but often causing a similar set of problems.
The diseases lead to a variety of progressive physical and/or mental deterioration over time. Some of the diseases may present in a "mild" form, and others with a more severe impact on the patient. Some patients survive into adulthood, but others with more severe symptoms may die in their teens or earlier.
There are currently more than 45 conditions which come within the category of Lysosomal Storage diseases. There is speculation that many other conditions may have lysosomal storage as their base cause, but the evidence of this is yet to be established for up to 50 other rare conditions.
Lysosomal diseases also exist in atypical forms which may exhibit very different symptoms from the typical form. In the typical form the enzyme will be at very low or undetectable levels, leading to the full set of symptoms, even though these symptoms may present to a mild or severe extent.
There is a medication called Lumizyme which is received by infusion once a fortnight, this medication is not a cure for pompe, but can halt the disease and help an individual's quality of life enormously. There are over 40 countries which allow their pompe patients access to this life saving drug. Unfortunately for me and the 7 other people here in New Zealand with pompe, our country isn't one of them! So we lucked out getting this disease, and then lucked out even more by living in NZ! And up until this I thought we lived in a great place.