"I AM NOT a woman who can always resist chocolate, wears make up to the pool, and has spotless floors all the time. But I am strong. I am invincible. I AM MOM." ~B.O.B

Wednesday, November 26, 2008

Sweet Josephine

My cousin, Josephine, was born on October 22, 2008. Shortly after birth, she was transported to Children's Hospital in Columbia due to Respiratory Distress. Josephine spent 8 days in the Neonatal ICU where she was diagnosed with Trisomy 18, or Edward's Syndrome.

What is Trisomy 18? Trisomy 18 is a genetic disorder associated with the presence of extra material from chromosome 18. Fifty percent of infants with this condition do not survive beyond the first week of life. Only 5 -10% of infants survive to their first birthday. The high mortality rate is usually due to the presence of cardiac and renal malformations, feeding difficulties, sepsis, and apnea caused bycentral nervous system defects. Severe psycho motor and growth retardation are invariably present in those who survive beyond infancy. The outcome is fatal - however, each case is unique and there is no timeline for Josephine's survival. Josephine has many of the outward characteristics as well as all four of the heart defects associated with T-18 - ventrical septal defect, atrial septal defect, patent ductus arteriosis, and narrowing of the aorta. She is fed through a feeding tube due to her small mouth and jaw and lack of the sucking/swallowing reflex. She also suffers from apneic episodes which require stimulation and the administration of oxygen until she begins to breathe again. She is currently being treated weekly by her pediatrician and has bi-weekly visits from a hospice nurse.
A blog has been started to host a benefit auction to help my Aunt Clara and Uncle Jon with Josephine's medical expenses. We are asking anyone how has been touched by Josephine's story, or by Trisomy 18 in any way to please bid on items in the auction. If you would like to make a monetary donation, that would be greatly appreciated as well.

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