According to a story from stuff.co.nz, a baby from Auckland has been diagnosed with two extremely rare disorders that only occur in one in every 10 million people. Her name is Ayla-Jean Beckham, and parents Jordan Abraham and Rocky Beckham realized that something off when she started to make erratic, jerking movements when she was just a couple of weeks old. Ayla-Jean was eventually diagnosed with Aicardi syndrome and opsoclonus myoclonus syndrome.
About Aicardi syndrome
Aicardi syndrome is a rare disease which is characterized by the absence of the corpus callosum (a vital brain structure), infantile spasms, and retinal abnormalities. The disease only appears to affect girls; most boys that present with symptoms actually have another rare genetic syndrome called Klinefelter syndrome. Aicardi syndrome is not considered heritable and instead appears as a new, spontaneous mutation. Other symptoms of the disease include various tumors, hydrocephalus, intellectual disability, microcephaly, and polymicrogyria. Treatment involves management of symptoms; no cure exists.
About Opsoclonus Myoclonus Syndrome
Opsoclonus myoclonus syndrome (OMS) is a neurological disorder of unknown cause. The disease is not passed on genetically and is not the result of infection, but it has been associated with neuroblastoma in children and other cancers in adults. About half of childhood cases are associated with neuroblastoma. Symptoms include sleep problems, vomiting, abnormal, rapid movement of the eyes and other muscles, lethargy, irritability, drooling, language disorders, and cerebellar ataxia.
A Long Road Ahead
With these two disorders, it is clear that Ayla-Jean will have an unusual and challenging life ahead of her. Her parents rushed her to the hospital after she began to display the abnormal eye movement characteristic of opsoclonus myoclonus syndrome. Not long after reaching the emergency department that she had her first seizure, which is associated with Aicardi syndrome. She was experiencing symptoms of both syndromes at the same time. She received her diagnoses when she was only three weeks old.
According to her specialist, this makes Ayla-Jean the youngest person to ever be diagnosed with opsoclonus myoclonus syndrome.
Naturally, the news was overwhelming for Jordan and Rocky. Taking care of Ayla-Jean will carry a set of unique challenges, but the family say that support from their families is already helping keep them on the right track.
If you would like to help support Ayla-Jean and her family, click here.
