Matthew’s story: ‘Because of Lurie Children’s and the 22q center, he’s able to live his best life’
After months of searching for a diagnosis, the frequent fevers, ear infections and bouts of pneumonia that baby Matthew had been enduring finally made sense to his parents, Cathy and Bryan.
The baby, from central Illinois, was diagnosed at Ann & Robert H. Lurie Children’s Hospital of Chicago with a form of 22q11.2 Deletion Syndrome, a rare genetic condition that is difficult to diagnose because it affects each patient differently. It was the root cause for Matthew’s frequent sicknesses. The family had never heard of the condition, but took comfort knowing Lurie Children’s is home to a multidisciplinary care team whose sole focus is 22q Deletion Syndrome.
Now 10 years old, 22q has affected Matthew’s physical growth and he requires a cecostomy tube and weekly infusions to enhance his immune system. He has occupational and physical therapy. Twice a year, the family visits Lurie Children’s to meet with its 22q team that is led by pediatric ENT specialist and surgeon Dr. Laura Rosenthal.
“Before meeting the team, Bryan and I had to be the communicators between all the specialists and doctors Matthew needed to see,” Cathy said. “With the 22q clinic, all the doctors are on the same page. It just makes it a whole lot easier for us to know that there’s this whole team who know exactly what 22q is, and what Matthew is experiencing.”
In addition to Dr. Rosenthal, the team includes Dr. Saied Ghadersohi, a pediatric ENT specialist; genetics specialists Lauren Hitchens, DNP, AGC-BC and Valerie Castelluccio, MS, CGC; pediatric endocrinologist Dr. Jennifer Miller; speech language pathologists; Dr. Elizabeth Lippner, Allergy & Immunology; audiologists, including Nicole Pain, AuD; a social worker and dedicated providers in pediatric cardiology and cardiac surgery, psychiatry, developmental and behavioral pediatrics.
Matthew’s appointments and therapies are just a small part of his life. He is an enthusiastic Boy Scout, an athlete – he loves sled hockey and basketball – and he spends lots of time gaming and playing with his many friends, his mom said.
“The thing I had to learn over time is that just because he has 22q, he is not 22q,” Cathy said. “I really believe because of Lurie Children’s and the 22q center, he’s able to live his best life.”