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Baby almost slipped at graduation
The graduation moment
John was two and a half and Megan was six months old, and the father also had a teddy bear in an HBS sweater and a diploma stuck in there somewhere in the middle. Megan almost fell, the audience gasped, and he caught her. In the moment it seemed like a kid who nearly slipped and a dad who was glad he'd caught her.
Looking back, he realized Megan lacked the strength to hold on, and his grip wasn't quite good enough either.
The diagnosis
Over the next six months the family moved to California for a new job, and Megan went from pediatrician to pediatrician to a neurologist, and from blood tests to scans to a deep muscle biopsy. The diagnosis was Pompe disease, a rare genetic muscle disease that devastates the muscles, including the heart and the muscles used for breathing, and leaves thinking untouched. Both parents were silent carriers with no history of the disease in their families, and each of their children had a one in four chance of getting both bad copies of the gene.
Patrick was seven days old when Megan was diagnosed, and testing showed he had it too. Less than a year after her diagnosis, both children were in wheelchairs on ventilators.
How can healthy parents both carry Pompe?
Pompe disease is autosomal recessive, so a child needs two faulty copies of the GAA gene, one from each parent. A carrier has one working copy, which usually makes enough enzyme that no symptoms appear. When both parents are carriers, each pregnancy has a one in four chance of an affected child, a two in four chance of a carrier, and a one in four chance of neither. The GAA gene sits on chromosome 17.
Why does Pompe weaken the breathing muscles?
The diaphragm and the muscles between the ribs are skeletal muscle, and skeletal muscle is where glycogen builds up in Pompe disease. As muscle cells fill with glycogen, they are damaged and lose strength. Weak breathing muscles lead to respiratory failure, which is the leading cause of death in the disease. Glycogen is the body's stored form of glucose.
Why do newborns get screened for Pompe?
Without treatment, the severe infant form of Pompe disease usually proves fatal within the first year or two of life, and treatment works best when started before damage builds up. A test on the dried blood spot taken from a newborn's heel can measure the activity of the missing enzyme. The US Secretary of Health and Human Services added Pompe disease to the Recommended Uniform Screening Panel in 2015.
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