My son Matteo was born one minute after his twin sister Valentina on the evening of June 6, 2012. The joy of having twins as a single-mom-by-choice was overwhelming and incredibly rewarding. At six months old, Matteo was not sitting up right, not rolling side to side, had trouble sleeping and drinking from a bottle. He always looked tired. We were referred to a metabolic specialist and after a couple of tests and calls to Duke University, we received the results of Matteo’s gene testing.

The results genetically confirms the diagnosis of Pompe disease and predicts Matteo to be CRIM+: To better explain, at amino acid position 309, the glycine residue has been changed to an arginine amino acid, at amino acid position 470, the asparagine amino acid that is supposed to be there is deleted. The first mutation is called a ‘missense’ mutation and has been seen in other patients (they were from the Netherlands) and studied, it predicts the presence of protein. The second mutation is called an ‘in frame deletion’ and has been seen in Castillan Spanish patients. The news came to us on Valentine’s day. We were also referred to a cardiologist and the ECHOs revealed an enlarged heart.

Matteo then spent a month in the hospital due to the RSV virus, and during his stay in the PICU, he received his first Myozyme infusion. He tolerated it without any complications and “graduated” to receive Lumizyme after his first birthday. Matteo’s heart is back to normal size, can sit unassisted, not walking yet but I know he’ll be chasing after his sister very soon.