Film highlights disease's challenges

Although it may not be well known, his name means strong man. This jovial little guy needs to be strong in order to face extraordinary challenges in his daily life. The San Mateo youth was diagnosed with Pompe disease before his first birthday. He lives on a ventilator around the clock, eats through a feeding tube and works with a group of nurses that his parents cannot speak high enough about. This rare situation, which occurs in about one in every 40,000 births, isn’t well known. That will change after this weekend with the release of "Extraordinary Measures,” the new Harrison Ford movie about a father and a scientist who work to find treatment for the disease.

While the discovery has helped many children live much longer with the disease, it has not worked for all afflicted. Magglio is in the latter category. Despite this, his parents are optimistic about the release of the new movie in hopes of educating people of the need to study this disease.

Becka Boscarino, Magglio’s mom, also hopes parents will get tested for the disease, which currently is not part of the prenatal care tests.

Pompe is an inherited disorder that often disables the heart and muscles caused by a mutation of a gene that creates an enzyme called alpha-glucosidsae, or GAA, according to the National Institute of Neurological Disorders and Stroke. Normally, GAA breaks down a stored form of sugars used for energy. Those with Pompe are unable to break down the sugar creating an excess that accumulates throughout the body, but the heart and muscles are most heavily affected.

Passing down such a gene was not a concern for Mark and Becka Boscarino, 34 and 36 respectively, who were unaware of the disease or that they both were carriers. The couple, which met working at the YMCA, was married three years ago. Magglio was born shortly after.

At a young age, Magglio had difficulties eating but those were later worked out. Becka noted he had a cold that seemed to last for a long time. As a result, she took her little one to the doctor three times over a three-week period when he was 4 months old. On the last visit, Magglio was X-rayed to check his lungs revealing an enlarged heart leading to more testing. It took one month to get the diagnosis. Weak muscles, a classic symptom of Pompe, were not present in Magglio making it more difficult to diagnose. As more was revealed, the more things changed.

"It has turned our world upside down. We take it one day at a time and sometimes we have to take it one moment at a time. Magglio is so magical, he has taught me to live in the moment and enjoy every moment,” Becka said.

His needs mean Becka and Mark trade places often, switching off between work and making sure Magglio gets the care he needs. Mark, a personal trainer at Equinox in San Mateo, and Becka, membership director at the Peninsula Jewish Community Center in Foster City, work to get Magglio to physical therapy and special playgroups. Recently, Magglio began learning to use an augmentative communication device.

He’s currently undergoing a new treatment and often does stints in the hospital. Becka explained she and Mark try to take him out to events and to do everyday things, but that gets increasingly difficult at Magglio gets bigger and requires more equipment.

Pompe is also not widely understood by others given its rarity, which can be stressful. The lower number of children affected means less parents with whom the Boscarinos can discuss challenges.

This weekend’s release of "Extraordinary Measures,” could increase awareness of the infliction.

The movie follows the story of John and Aileen Crowley. Shortly after the birth of their second child, Patrick, the couple learned both their newest addition and 15-month-old Megan had Pompe disease. The family moved to be closer to researchers of the disease, and finally John Crowley began working with an Oklahoma City-based biotech working on an enzyme therapy. Five years after the diagnosis, the children were given the experimental drug. Today they remain on respirators.

Through it all there have been setbacks. Magglio previously was able to sit up and breathe on his own. Today, he’s on a ventilator and needs support. Despite the challenges, Becka has learned a new way to look at life.

"He’s such a happy little boy,” she said. "He teaches me something new every day.”

To learn more about Pompe disease visit www.unitedpompe.com.

Heather Murtagh can be reached by e-mail: heather@smdailyjournal.com or by phone: (650) 344-5200 ext. 105.