Avery was born with syndromic craniosynostosis. There are over 200+ known craniosynostosis syndromes that can be confirmed through genetic testing (including Apert's, Crouzon's and Pfeiffer syndrome), but we have yet to uncover Avery's - we completed three rounds of genetic testing and no mutation was ever found.
Her obvious facial differences were caused by premature fusion of the sutures between her skull plates while in utero. Because the "normal" development of her face and head was disturbed, Avery has many unique skeletal features. Her orbits (or eye sockets) are shallow and her midface and palate are small and "held back" in proportion to her lower jaw. Because her nasal passages are so constricted, Avery has a tracheostomy for safe and easy breathing.
Her ear canals are also very small and put her at great risk for hearing loss (she has none at this time).
Because a baby's skull must remain pliable to give space for its rapidly growing brain, the immediate concern with craniosynostosis is the pressure on the brain as it grows. When the skull has run out of room, the brain can suffer severe damage from ICP (or intracranial pressure).
Avery's skull has been cut open and reconstructed numerous times to give her brain room to grow and a shunt drains fluid that may become obstructed in the ventricles surrounding her brain to the open cavity in her abdomen (she was born with obstructive hydrocephalus due to the limited space in her tiny skull). Her shunt has failed on numerous occasions, once, driving her into a coma as the pressure on her brain burned out her optic nerves and induced seizures.
Despite all this Avery continues to exhibit normal to advanced levels of intelligence. She speaks, despite her tracheostomy, follows directions, expresses opinions and memorizes books and songs almost instantly.
Her most significant delays are gross and fine motor skills. Because her first year of life was spent almost entirely in the hospital, heavily sedated and recovering from major surgeries, Avery was unable to develop and explore the world the way the average baby should. Combined with low muscle tone, this has left Avery far behind her chronological age and physical therapy, occupational therapy and speech therapy are key interventions that she receives several times a week (in addition to weekly commutes to the specialty children's hospital in our state for visits with her doctors).
Because we don't fully know her syndrome, there is no solid trajectory for her future and we are not certain what may lay ahead (besides another skull surgery in the fall and a midface advancement in five or six years), but we take great comfort in the resilience and bravery she has already shown in her two years of life.
We believe that she will learn to walk, eat without the help of her g-tube and eventually be trach and ventilator free. Avery is truly the toughest and most joyful girl we know.
