Zalina Gurguri was born full term, weighing 3.541kg, on October 29, 2022 at South County Hospital. As parents, we felt from the first moment that something was not right as she barely cried after her birth. Within a few hours of her life, she started to have poor feeding and bilious emesis. Worried that Zalina had a blockage in her intestines, she was rushed to a bigger hospital in a different state where the doctors observed that she was having seizures.
Zalina underwent a whole genome sequencing study and was diagnosed with WOREE syndrome. The syndrome is one of three diagnoses of a mutation of the WWOX Gene. WOREE syndrome is the most severe of the genetic mutations that results in epilepsy, global developmental delay, and cognitive impairment. According to previous reported cases, the average life expectancy appears to be in the range of 2 to 4 years.
After a sleep study, she was diagnosed with central apnea and requires oxygen overnight. She is having difficulty sleeping. Because of the risk of aspiration, Zalina is exclusively tube-fed through her jejunostomy tube and is on medications to control her seizures as well as to lessen secretions.
After spending the first 6 months of her life in multiple hospitals, she finally went home to be with her older brother, her parents and their dog, Skye. Zalina’s oxygen levels are constantly monitored by a pulse oximeter, and, in no time at all, their Border Collie learned how to alarm the family when her oxygen levels dropped.
She still has significant limitations in regards to her developmental milestones. She receives services from Early Learning Intervention, once a week occupational therapy, and two times a week physical therapy comes as well.
In the fall of 2023, she was diagnosed with Infantile Spasms, which is a devastating disease for her brain development, Hyponatremia (low sodium), and cortical vision impairment.
After celebrating Zalina’s first birthday, she unfortunately came down with bronchiolitis and back-to-back Rhino viruses and spent a long period of time in and out of hospitals. Medically complex children like Zalina will most likely hardly recover (even from a Rhinovirus) and struggle to come back to their baseline. She became chronically ill and a lot of respiratory treatments were involved in her care, including her mother who had to become trained to do NP suction (nasopharyngeal and oropharyngeal suctioning) to keep her airways open, as the medical facility on the island doesn’t provide it as a service.
There is a shortage of skilled nursing care for home care services in our state and the pool of available nurses shrinks significantly when it comes to servicing Block Island. However, with the help of an insurance case manager, an agency stepped in and took her case and has been trying to find help. For now, there’s a nurse that travels once a month from Boston to give a short break to the family.
Zalina is an example of a true warrior. She is our little sunshine and has shown us what is important in life and how to advocate for her in the best possible way when she is hospitalized.
She loves smiling and trying to track her brother’s voice. She communicates mostly with her eyes. As she is unable to take anything by mouth, she really enjoys eating her right hand and getting her daily oral hygiene.
The family is enjoying fully every day that she can still be on the special Island that they call home!
There’s a hope in an upcoming gene therapy for better managing of the symptoms in this cruel disease.
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Thank you!
Margarita, Meriton, Zamir and Zalina
