While most parents spend the first few days after delivery basking in the joy of bonding with their newborn, Tina and Chris Stuto’s world changed forever when, just two days after their son’s birth, they received life-altering news.
When Joey Stuto was born in April of 2014, he was sent for the typical newborn screenings. That first day, he didn’t seem to want to eat and refused to take a bottle. Unfortunately, this meant mom and son could not be discharged from the hospital until he ate. The following day, Joey finally began to eat, but that moment of relief quickly turned as the results from his newborn screening arrived—bringing news that would suddenly change everything. The reading said that Joey had a rare metabolic disorder called Methylmalonic Acidemia with Homocystinuria, or MMA + HCU for short. A week later, during Joey’s first pediatrician appointment, they repeated the blood test to confirm the accuracy of the results. It was confirmed that he had Cobalamin C deficiency (CblC), which is the most common type of MMA + HMU.
Methylmalonic Acidemia (MMA) is a rare, genetic disorder of the liver, most often diagnosed within the first few months of life. Individuals with this condition are unable to produce an enzyme that is needed to break down and use certain proteins and fats found in food. This causes a buildup of acids and other harmful substances in the blood, urine and other cells, including brain cells. How this toxic buildup affects the body can vary drastically from one person to another. For some, it causes seizures, strokes, growth problems, developmental delays and frequent episodes of severe illness. Thankfully, Joey’s symptoms are less severe and overall, he remains pretty healthy. One of the biggest challenges the family faces, however, is his nutrition. Joey is a fussy eater and has quite a few sensory issues related to his condition. To help with this, Joey has been seeing a gastroenterologist at Mass General for Children to work on improving his diet and nutrition. Since there’s some concern about his growth, Joey is starting a new medication to help boost his appetite.
After confirming the diagnostic results, Joey’s pediatrician, who had never even heard of the disorder before, referred the family to a geneticist at Boston Children’s Hospital, and they would soon start a treatment plan for him, including Hydroxocobalamin injections that Tina and Chris had to give to him daily. They were also referred to an ophthalmologist because this disorder typically affects vision, among many other things. The ophthalmologist did confirm that it was already affecting Joey’s retina and that he was legally blind. At 6 months, Joey became registered with the Massachusetts Commission for the Blind.
For Tina and Chris, the whole experience was scary and incredibly frustrating. Tina remembers thinking, how could this happen to our little boy? With only 1 in 300,000 kids diagnosed with Joey’s disorder, that feeling of why him? is something many parents of children with rare diseases share. One of the hardest parts of this journey is the lack of resources and information available about rare conditions. It leaves parents facing so much uncertainty about the future and, at times, a deep sense of worry about what’s to come in the long term.
After being with Boston Children’s for a few months, the family decided to make the switch over to the Division of Medical Genetics and Metabolism at Mass General for Children. According to Tina, “it was the best decision we ever made. From the moment we walked into that first visit and meeting Dr. Sweetser, we knew we had found hope and a place for Joey to get the help and care he needed.” Before they made the switch to Mass General, they were told by Boston Children’s Hospital that genetic testing was going to be very expensive. Fortunately, the family was able to receive this testing at Mass General for Children for tens of thousands of dollars less. The Stuto family has now been with Dr. Sweetser, Chief of the Division, for over 9 years, and say they were able to learn all about Joseph’s disorder and spend thoughtful, quality time working with Dr. Sweetser to develop the right treatment plan for Joey to reach his full potential. This extended time with Joey’s doctor during appointments, as well as scheduling support for his multiple specialist appointments, are just a few benefits the Stuto family receives as part of the care coordination at the hospital, made possible by funding by The Genesis Foundation for Children. It is what sets apart Mass General for Children from other hospitals and allows patients with rare diseases, and their families, to receive holistic, life-changing medical care they cannot find anywhere else.
Today, Joey is 10 years old and while his journey continues to have difficulties, “he is a happy, funny, smart 4th grader whose doing things we’d never thought he would do”, says Tina. “He has accomplished his own goals and milestones at his own speed.” Even though he is 10, his development is closer to age 7 and school tends to be difficult for him. Currently, Joseph is undergoing speech, occupational and vision therapy in school, and has recently started using a walking stick to get to and from his classes. He still cannot read and is in a special program in his school district to help improve his reading ability. He uses a magnifier for all schoolwork and his teachers praise him for how hard he works, though he often comes home tired after school as a result. For Tina, having a child with a rare disorder and legal blindless is not without its challenges, but she says, “Joseph is a fighter, he has always been. It’s nice to see him having fun and making friends. Joey loves the beach, boat rides, pools, arcade games, golfing at the driving range, and playing basketball in the driveway with his 13-year-old sister, Cecelia.” She continues, “For us and him having this disorder, we have no idea what each year will bring, but we feel confident that Dr. Sweetser and Joey’s entire team at Mass General for Children has our back for anything to come in the future.”