meet william gossard By Maria Smietana
Receiving the Diagnosis of SeSAME/EAST Syndrome When Abigail (Abby) and Brian Gossard brought home their first child, a baby boy named William, they only knew that his initial hearing test was inconclusive. “As we left the hospital, all we knew was that he had an unconfirmed hearing test – meaning they couldn’t say he for sure had hearing loss but couldn’t say he could hear,” Abby recalled. When William was 12 weeks old, an ABR (auditory brainstem response) test was done. The ABR test reveals whether the inner ear, called the cochlea, and the brain pathways for hearing are working. The ABR test is often used in babies and young children who can’t undergo a typical hearing test. William’s results were again inconclusive, but when the test was repeated under sedation, it was confirmed that he did indeed have profound hearing loss.
Now, the puzzle pieces from the various genetic and laboratory tests could be put together, and William was finally diagnosed with EAST syndrome (Epilepsy, Ataxia, Sensorineural hearing loss, and Tubulopathy), more commonly known now as SeSAME (Seizures, Sensorineural deafness, Ataxia, intellectual (Mental) disability, and Electrolyte imbalance) syndrome. Though having a diagnosis after so many years of uncertainty was comforting for the Gossards, there was little that changed on a practical level. William’s symptoms were already being treated with the best possible therapy and medication, and there is no cure for EAST syndrome.
The following day William started having seizures, and shortly thereafter, his parents learned that his muscle tone was really weak. “So, for four years, we treated the hearing loss with hearing aids (he received his first set at 6 months and responded well to them) and music therapy to specifically help with his speech,” Abby said. “We did physical and occupational therapy for his [muscle] tone and fine motor issues, and then treated the seizures with meds.” When he was 4, William had a particularly bad seizure that lasted 15 minutes, which resulted in an ambulance ride to a local hospital in Lafayette, where the Gossards live. He was transferred to Peyton Manning Children’s Hospital in Indianapolis. His neonatologist, Dr. Luis Escobar, decided to request more genetic testing. Dr. Escobar had done some previous genetic testing on William, but the focus had been on possible mitochondrial disease. With this hospitalization, the Gossards also learned about William’s kidney issues for the first time — “basically his kidneys filter out potassium and magnesium really quickly and he needs supplements to keep his electrolytes up, Abby said.”
“We’ve had to learn to be flexible and patient,” Abby said. “We’ve also had to lean on our family and ask for help with taking care of our other son (James was born when William was 2) during those long hospital stays that William goes through.”
12 Special Needs Living • January 2021
If the diagnosis brought any surprises for the Gossards, it was how incredibly rare EAST syndrome is. “We know of one other family with a child that has the same diagnosis as William,” Abby said. “They live in the UK. We feel that the more open we can be about our [son’s condition], the better our chances of finding more families like us.” William is now 10, and his younger brother, James, will be 8 in January. They both go to Edgelea Elementary School, where William is in third grade and James in second. “Edgelea has a deaf/hard of hearing classroom that allows William to be with other kids in the district who also have (cochlear) implants and require some extra assistance,” Abby said. Like other special needs children, he has an individual education plan (IEP), and
