Ira is a busy, active two-year-old boy. He races around the house, plays with his brother and sister, helps his mother with chores like folding clothes, and loves to cuddle and listen to stories.

He also has Pompe disease—a rare neuromuscular genetic disorder that occurs in babies, children and adults who inherit a defective gene from their parents.

Common symptoms of infantile-onset Pompe disease include severe and rapidly progressive muscle weakness, delayed motor development, cardiomegaly/cardiomyopathy, respiratory distress and feeding difficulties.

Prognosis for infants with Pompe disease is grim. Without treatment, most babies with the disease die from cardiac or respiratory complications before their first birthday.

When Ira was diagnosed with Pompe disease at just one month of age, his team of caregivers chose to research opportunities that would allow him to live life as normally as possible, rather than simply wait to die.

When he was 6 weeks old, Ira’s doctors started biweekly infusions of Myozyme, an enzyme replacement therapy (ERT) that had just received Federal Drug Administration approval in April 2006.

ERT is administered to replace the deficient enzyme that causes Pompe disease. Administered intravenously, Myozyme is the first and only approved drug in the United States and Europe for the treatment of Pompe. Because there is a risk that some people may have a severe reaction to Myozyme, the infusions are given in a clinic or hospital setting, where appropriate medical support measures are readily available when the drug is given.

Ira goes home
The severity of symptoms associated with Pompe disease can vary greatly among patients. Although the Myozyme infusions had stabilized his disease, Ira required a ventilator to assist with breathing and a feeding pump for his nutritional intake. Bringing him home from the hospital required teamwork, coordination and education. PHS clinicians, including respiratory therapists, nurses, pharmacists, dietitians, and social worker, worked with Ira’s mother and his team of caregivers to ensure he would continue to receive the hospital-quality care he needed, while living at home with his family. But once he was settled and living at home, Ira still required medical transport to go back to the hospital every other week for his Myozyme treatments.

Stepping outside the norm to take care of the child
After a year of trips to the hospital, Ira’s family and medical team began researching the possibility of providing the Myozyme infusions at home. Ira was tolerating the drug, and had been since he was six weeks old, and the costs and risks involved with transporting a medically fragile child to the hospital were adding up.

In September 2007, Ira’s medical team approached PHS about the possibility of providing the complex Myozyme infusion therapy in Ira’s home. We already had a multi-disciplinary team of clinicians caring for Ira, but there was no precedent for giving Myozyme in the home setting. Before making a decision, the Infusion Therapy team at PHS conducted extensive research into the drug and requirements for administering it safely.

The primary question we had to address was “Can this infusion be done safely in the home?” To answer that question, we worked with Ira’s doctors, the in-patient infusion center, and the drug manufacturer, Genzyme.

A multidisciplinary team approach
There was no protocol for giving Myozyme infusions in the home. But given our close association with Ira’s doctors, the broad depth of experience of our PHS nurses in working with the changing needs of growing children and their families, and the fact that he had been tolerating the drug beautifully since six weeks of age, we were confident we could put together a safe plan of care. Meanwhile, PHS billers worked to ensure that insurance coverage would not be an issue for the family.

Once we’d developed a protocol and ensured we could safely administer the infusion, PHS agreed to provide the service and preparation began to not only provide ventilator and food pump support to Ira, but also Myozyme and other IV treatments.

Making history
On November 21, 2007, the first home Myozyme infusion was administered to Ira by a PHS nurse.

Today, he’s a veteran at receiving the drug, and when PHS clinicians Mary and Doreen walk in the door, Ira understands exactly what’s going to happen. And even though he knows it’s going to be a long day—the Myozyme infusion alone takes about four hours—he’s excited to see them. A typical toddler, he likes to play with things—stretching his cords, toying with his trach and ventilator tubes, and trying to pull out his port needle—which he finds entertaining. With years of experience in working with children, his nurses know how to keep him occupied, and a day of infusions is also a day for cuddling, reading and watching movies.

While Ira occasionally has to be readmitted to the hospital for short stays due to various complications related to Pompe disease, he is living his life at home as a strong, resilient toddler, surrounded by a loving family. Our clinicians continue to monitor his progress, adjusting his therapy when necessary, to give Ira the greatest opportunity to live a long, prosperous life.