Luke's Birth and NICU Stay
Luke was born on February 2nd, 2016 and was diagnosed with Apert Syndrome. Apert Syndrome is a rare genetic disorder that occurs in an estimated 1 in 88,000 births. There are no known causes for the mutation of the FGFR2 gene, however geneticists are continually exploring all possibilities. Apert Syndrome is characterized by the malformation of the skull due to the fibrous joints between the plates in the skull, also known as sutures, to close prematurely. This is known as craniosynostosis and can lead to distinct facial features such as bulging eyes and a misshapen skull. Due to the fused sutures in Luke's skull, he also has a condition known as mid-face hypoplasia, which looks like he has a flat face. This will require a major surgery to correct, one that will not be able to be performed until he is between 8 and 10 years old.
Another effect of Apert Syndrome is what is called syndactyly, which is the condition of having some or all of the fingers or toes wholly or partly united. This may also result in bone fusion in the fingers and/or toes and also missing joints and/or bones. Luke had fusion at the tips of his middle and ring fingers on both hands.
Luke's condition presented with his coronal suture completely fused and his fingers and toes webbed. His thumbs are free, but twisted and will need surgically repaired. In addition to anomalies in his skull, hands, and feet Luke also has a submucosal cleft palate. This has made it impossible for him to nurse and to only drink from a special nipple called a Haberman. These bottles can be quite pricey for the family to purchase. The surgery to correct this was to take place when he was around 1 year old.
With everything else that Luke has going on he also has a narrow nasal passages making it difficult to breathe especially during feedings. This is a direct result of his mid-face hypoplasia mentioned above. Because of his difficulties with breathing, Luke had to have a nasal dialation. The surgeon would attempt to physically make Luke's nasal passages larger to help him breathe easier. His first one was during this 18 day stay in the NICU.
After 18 days in the NICU, Luke was finally discharged to go home!