Big purple glasses frame Sofia Izzi’s big blue eyes, matched only by her beaming smile and loving personality. This little girl, although tiny in size, is proving she is capable of big things despite her diagnosis with an incredibly rare genetic disorder.
Sofia was meeting all her milestones up until about 6 months of age. Then, she wasn’t sitting up or reaching for toys or for her parents. “That’s when I brought her into the pediatrician,” said her mother, Stefanie, of Franklin, Mass. “They said to give her some time, maybe she was just a late bloomer. But I still thought something wasn’t quite right.”
Three months later, Sofia still wasn’t sitting up. “That’s when I took her to the doctor again and we set up Early Intervention. I had no idea what Early Intervention was or what that appointment would mean, but they referred us to a geneticist at another local hospital just in case,” said Stefanie. There, Sofia received an unexpected diagnosis her parents, Stefanie and Tyler, had never heard of – Pitt Hopkins syndrome.
Sofia is one of an estimated 500 children in the world diagnosed with Pitt Hopkins syndrome, a genetic disorder that affects development, speech and intellect. Children and adults with Pitt Hopkins syndrome are often non-verbal and meet developmental milestones, such as walking or sitting up, much later than others. They also commonly have seizures, breath-holding spells and chronic constipation. After receiving the diagnosis, the Izzis transferred their daughter’s care to the Pitt Hopkins Clinic at MassGeneral Hospital for Children and Massachusetts General Hospital.
The Pitt Hopkins Clinic is the largest of three clinics in the United States that cares for patients of all ages who have Pitt Hopkins syndrome. It serves as a “one stop shop” for patients and families, who often arrive with a host of concerns that need care from multiple specialists, including Genetics, Pediatric Neurology and Pediatric Gastroenterology and Nutrition.
The clinic is co-run by David Sweetser, MD, of Medical Genetics, and Ronald Thibert, MD, of Pediatric Neurology. “It is incredibly rewarding work because the families we see are so invested in their children’s care. The Pitt Hopkins community is very close-knit because it’s so rare,” said Sweetser. Pitt Hopkins families around the world have connected and formed an extensive support group on Facebook©. The group, along with the Pitt Hopkins Clinic at MGHfC and Mass General, has greatly increased the team’s understanding of the disorder in a relatively short time.
When Sofia came to the clinic, she had many of the typical concerns seen in Pitt Hopkins patients. “With our team’s extensive experience with this rare disorder, we can give information and care guidelines to families and their home providers, which has been very helpful,” said Sweetser. “Since then, it is amazing to see how well Sofia has done with her family’s love and support and making sure she gets the care she needs.”
For the Izzis, Sofia’s care team, buoyed by support and love from her parents, has helped her flourish into the smiley, determined toddler she is today. “The clinic has given us hope that she is going to surprise us and conquer the mountains that are up against her,” said Stefanie. “She is so resilient and we are too, because of her. She is teaching us lessons we never expected to learn.”
Now, at age 3, Sofia has learned how to crawl and can almost pull herself to stand. To communicate, she uses hand signs and an iPad®. In the fall, Sofia will enroll in an inclusion program at her local preschool where she might say “Hi” to new friends.
“Sofia can make sounds now and she knows the word ‘Hi,” which she likes to say to everyone,” said Stefanie. “She knows what she wants to say. She just has to find her own way to say it.”
Since coming to MGHfC, Stefanie and Tyler have also become unofficial advocates and liaison for other Pitt Hopkins families who travel from all over the world to the clinic and to Boston. “Last March, we connected with a family on social media who was coming to the clinic from out of state and we were able to meet up in the city,” said Stefanie. “I was also able to tell them who they were going to meet at the hospital and what to expect when traveling to Boston. We’ve become friends and we help each other through things that you’d never expect to go through as a parent of a child with a genetic disorder.”