Hazel was diagnosed with Bohring-Opitz Syndrome when she was 20 months old. It is a spontaneous mutation on the ASXL1 gene, and is extremely rare. There are less than 70 reported cases worldwide! The syndrome is very severe and there is a high infant mortality rate. Fortunately for us, once a child reaches the age of two, he or she is considered much more likely to survive.
IUGR (Intrauterine growth retardation)
Severe to profound intellectual disabilities
Failure to thrive with significant feeding difficulties
BOS posture (fixed contractures at the elbows)
Proptosis (bulging eyes) with severe myopia
Upslanting palpebral fissures (opening between the eyelids)
Variable microcephaly (smallness of head)
Micro or retrognathia (small or recessed jaw)
Depressed and wide nasal bridge
Low set, posteriorly angulated ears
High palate with prominent palatine ridges
Hypertrichosis (excessive hair growth)
Glabellar nevus simplex (birthmark between eyebrows and above nose)
Our daughter receives a variety of early intervention services. She attends physical, occupational, feeding, vision and speech therapies. She also receives aqua therapy, a form of physical therapy in the water. She loves it! We see many pediatric specialists including neurology, pulmonology, GI, nutrition, opthalmalogy and genetics. Children with BOS are at a higher risk for Wilm’s tumors, so we must get renal ultrasounds every six months.
Other than developmental therapies, there are no treatments for children with BOS. Hazel, like many children with BOS, takes medication for seizures and requires daily stool softeners to battle chronic constipation. Hazel will soon wear a CPAP for obstructive sleep apnea and may need a lycra suit to prevent scoliosis.
Children with BOS tend to sleep irregularly and often. Hazel often doesn’t wake until after 9 am, and frequently falls back asleep after breakfast for several hours. We are not sure if this is due to the syndrome, her hypotonia, or her sleep apnea.
I welcome questions about BOS or raising a child with severe disabilities. Feel free to contact me at firstname.lastname@example.org.