Noah was born at full term with no complications and zero implications of any health issues. He had Mongolian spots on his back and legs, but it is common among Asian people to be born with it. Knowing all the things that can go wrong during the birthing process, we were so relieved when it was all over. Exhausted and excited, we brought Noah home to start the beginning of a new chapter in our lives.

 

Over the first two years, Noah had frequent visits to the doctor’s office. We were concerned first time parents, but the doctors always assured us that kids always get sick and pe-tubes and hernias are somewhat common. Little did we know, every little sign and symptom Noah had were red flags towards his diagnosis of Mucopolysaccharidosis (MPS II Hunter Syndrome).

 

• We were proud that he grew at a fast pace reaching the 95th percentile, but he dramatically fell off the curve at 18 months old.

• The pediatrician noticed a heart murmur at 14 months old, but the pediatric cardiologist found it to be an innocent heart murmur.

• He had inguinal and umbilical hernia repairs at 15 months old, but we were assured that it was somewhat common in baby boys and had nothing to worry about.

• He had a chronic runny nose and frequent ear infections, which eventually lead to implanting pe-tubes at 19 months old. Again, we were assured that this was very common with children in daycare.

• He had a soft snore as an infant, but it grew louder and eventually caused obstructive sleep apnea at 23 months old. This was the ultimate red flag that lead him to see a specialist.

 

All of these factors are early signs and symptoms commonly found in MPS II patients.