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Tuesday, January 9, 2018
Marisa and Bobby Boidi waited anxiously at their daughter Natalia’s bedside in the Pediatric Intensive Care Unit (PICU). As they took a deep breath in, Natalia, then 5 months old, took a small one, this time without the help of a bipap machine. Until this point, their daughter had struggled to breathe on her own. For 15 minutes, Natalia breathed without assistance before her care team turned the bipap back on.
Natalia, now 11 months, was born with SMA type 1, a genetic disease that causes nerves in the spinal cord to slowly die off. Over time, babies lose motor function and cannot eat or sit up without support. Eventually, many can no longer breathe on their own and die. Eight out of 10 babies with SMA type 1 die by age 2. Those who survive are extremely weak and fragile, and fully dependent on life support for the rest of their short lives.
In the spring of 2017, at 5 weeks old, Natalia had a cold and was struggling to breathe. Her parents rushed her to a local emergency room. From there, Natalia was taken by ambulance to another Boston hospital where doctors grew concerned that she was showing signs of SMA. She was intubated en route to Boston and put on a ventilator. A series of tests confirmed their suspicions and hospital staff called upon the expertise of Kathryn J. Swoboda, MD, a clinical geneticist and neurologist at MassGeneral Hospital for Children (MGHfC), and an expert on degenerative neurogenetic conditions, including SMA.
Around this time, a novel therapy for SMA called Spinraza had just come onto the market and showed promising results for babies diagnosed with the disease. Spinraza, which must be injected via a spinal tap every four months for life, is a unique form of gene therapy that increases the deficient SMN protein, dramatically slowing the disease progression. Before Spinraza, hospital staff typically helped prepare families who have babies with SMA for end-of-life care or extended life support. Now, babies who were once virtually immobile began to sit alone or even walk. Those who may have once depended on feeding tubes began to eat by mouth. Many learned how to speak and breathe with little to no support. After the consult with Swoboda, the Boidis knew that having Natalia receive Spinraza was her second chance at life.
“When I met Natalia and her family, I said ‘I don’t know the outcome, but I do know that she deserves a chance,’” said Swoboda, the endowed chair in Neurogenetics, director of the Neurogenetics Program at Massachusetts General Hospital and co-director of the MGH Neurogenetics Diagnostic Laboratory. “This medication has created a new path for babies with SMA and it’s just miraculous. However, it is important to start treatment as quickly as possible before motor neurons die.”
Natalia received her first dose of Spinraza at the other hospital before being transferred to the PICU at MGHfC. In the four months after the first dose, she learned how to move her arms and legs, reach for toys, suck on her pacifier and bring her hands to her mouth – things that were once uncommon or impossible in babies with SMA type 1.
Every movement of her finger, every breath and every turn of her head was cause for celebration, said Patricia J. O’Malley, MD. “Natalia is one of those babies who just gallops into your heart,” said O’Malley, medical director of Pediatric Palliative Care. “We were candid and realistic about potential outcomes, and her family was ready to accept those outcomes if that was what must be. But they knew they had to give Natalia every chance, and because of that courage, we did as well.”
All of Natalia’s progress comes down to one word – hope. “When Natalia came to us, she was very weak and we weren’t sure if she was going to make it,” said T. Bernard Kinane, MD, chief of Pediatric Pulmonary Medicine and director of the Pediatric Sleep Program and Pediatric Cardiopulmonary Exercise Laboratory at MGHfC. “She is charming and she has a great stubbornness that makes her a fighter. With Spinraza, SMA is less of a death sentence and more of a new path for better quality of life.”
Now, Natalia only wears a breathing mask while she sleeps at night. She is learning how to roll over and how to use an infant stander. If there is a medical concern, it is nothing the Boidis cannot handle at home with skilled nursing. “She is growing and reacting to things,” said Marisa. “It’s simply amazing what she can do now.”
Even if Natalia’s story was different, the Boidis knew that coming to MGHfC was the key to her current outcome. “The care team was always pulling for us and for Natalia while never giving false hope,” said Marisa. “It was all in how they delivered the message. The level of care, honesty and kindness is just outstanding.”
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