EARLY SIGNS
The severity and age of onset of Pompe differ depending on the form.
Signs of classic infantile-onset Pompe begin before or shortly after birth and include:
- Muscle weakness (myopathy)
- Poor muscle tone (hypotonia)
- Failure to gain weight and grow at expected rate (failure to thrive)
- Difficulty breathing
- Trouble feeding
- Respiratory infections
- Hearing problems
Signs of non-classic infantile-onset Pompe usually occur by age one and include:
- Delayed motor skills
- Progressive muscle weakness (myopathy)
- Difficulty breathing
Late-onset Pompe may develop in childhood, adolescence, or even adulthood. It is also associated with progressive muscular weakness and difficulty breathing. However, the symptoms are usually milder and progress more slowly than the other forms of Pompe.
CAUSES
Structures called lysosomes are the recycling centers within our cells. Lysosomes contain enzymes that help the cell breakdown and reuse certain materials from the foods we eat. Some enzymes help the lysosome breakdown complex sugars, specifically. One of these enzymes is called acid alpha-glucosidase (GAA).
If your baby has Pompe, his or her body is missing or making non-working copies of GAA enzymes. When this enzyme is not working correctly, your baby’s body cannot break down a large sugar molecule called glycogen into smaller components. This causes undigested sugar molecules and other harmful substances to build up in cells throughout the body, resulting in the many signs and symptoms of Pompe.
Pompe is an autosomal recessive genetic condition. This means that a child must inherit two copies of the non-working gene for Pompe, one from each parent, in order to have the condition. The parents of a child with an autosomal recessive condition each carry one copy of the non-working gene, but they typically do not show signs and symptoms of the condition.
While having a child with Pompe is rare, when both parents are carriers, they can have more than one child with the condition.
TREATMENT
Enzyme Replacement Therapy
Your baby’s health care provider may recommend your baby go on enzyme replacement therapy (ERT) to improve the signs and symptoms of Pompe. This treatment aims to supplement the enzymes that are present at low levels in your baby’s lysosomes. ERT can stabilize your baby’s organ function, improving motor skills, and reducing heart enlargement.
Physical Therapy
Physical therapy will be necessary to help infants, children, and adolescents develop motor skills, maintain range of motion, and strengthen muscles and joints.
Respiratory Therapy
Because lung infections and breathing difficulties are common in children with Pompe, your baby may need to use a CPAP or BiPAP machine. A CPAP machine helps to keep your child’s airways open and a BiPAP machine helps your child inhale more air into his or her lungs.
Dietary Treatments
Many babies with Pompe have trouble feeding and gaining weight. A nutritionist or dietician can help you monitor your baby’s calorie intake and plan a diet that will provide the nutrients he or she needs for proper growth and development. Some children with Pompe are managed on a soft diet, while others may require a feeding tube.
EXPECTED OUTCOMES
When Pompe is detected early and proper treatment is started immediately, many babies with the condition are able to live longer lives with improved growth, development and organ function. This is why newborn screening for Pompe is so important.
Even with treatment, children with both forms of infantile-onset Pompe usually pass away in early childhood. Individuals with late-onset Pompe often have longer lifespans with slower disease progression.