Rebekah Faith - Redefining 'Incompatible With Life' - Living with Trisomy 18: trisomy 9p

Showing posts with label trisomy 9p. Show all posts

Thursday, May 3, 2012

Against the Odds - Living with Trisomy 18

Rebekah celebrated her 3rd birthday on April 21, and she celebrated surrounded by her trisomy family! Thanks to Russ Bowen at ABC's WLOS 13 in Asheville, NC, we were able to share the miracle of her life and the blessing that she is to our family. We are so very grateful to WLOS for running this Special Report on trisomy 18 and sharing our hope and faith with others! Please grab a tissue before watching and SHARE, SHARE, SHARE!! We want people to know that this is a journey worth walking. (The direct link to the youtube video is here: http://www.youtube.com/watch?v=M5JDrQrwYFY)

The video was taken during the weekend of Rebekah's birthday. We celebrated with 6 trisomy 18 and 1 trisomy 9p friends. We also had the family of a chromosome 2p- (microdeletion), and two families who have lost their trisomy 18 children. Our friends came from SC, FL, and GA. Below are just a few pictures followed by a link to our facebook birthday bash photo album.

Josiah decided he wants to be a camerman when he grows up!

Beautiful trisomy kids and their mommas

Rebekah showing off her pretty dress and newfound standing skills

Lisa, trisomy mom to Joey, receives a kiss from Kaylen, who has full trisomy 18 and is 11 years old!

There are many more photos to be seen! Please check them out on our birthday facebook album.

Trisomy 18 and Rebekah

Our life changed drastically in December 2008 when our baby girl, Rebekah, was diagnosed through amniocentesis around 20 weeks gestation as having ‘full’ Trisomy 18.

Trisomy 18 (T18) or Edwards Syndrome is a genetic disorder caused by the presence of an extra 18th chromosome. The syndrome has a very low rate of survival, and babies with T-18 typically have complex medication problems resulting from heart abnormalities, brain defects, kidney malformations, spinal cord defects, and other internal organ disorders. Cleft lips and palates are also more common in babies with trisomy 18. They may have hand and foot anomalies. Babies with trisomy 18 may have difficulty regulating their breathing and temperature. T-18 babies typically have severe mental deficiencies and tend to grow/mature at an extremely slow pace. They may also be unable to feed properly and often require G-tubes. Neurological defects cause many problems with these children – the brain simply ‘forgets’ to tell the heart to beat or the lungs to breathe and seizures are not uncommon. The body often just ‘gives out’ after a period of growth and progress.

Because of the large number of potential medical problems, babies with trisomy 18 are usually considered “medically fragile” and the medical community likes to use the phrase "Incompatible With Life". About 95% die in utero. Of liveborn infants, only 50% live to 2 months, and only 5–10% will survive their first year of life. The median life span is five to fifteen days. One percent of children born with this syndrome live to age ten, typically in cases of the less severe mosaic Edwards syndrome. Major causes of death include apnea and heart abnormalities. It is impossible to predict the exact prognosis of an Edwards Syndrome child. Because major medical interventions are routinely withheld from these children, it is difficult to determine what the survival rate or prognosis would be with aggressive medical treatment.

Our Rebekah Faith was born at 38 weeks by induction on 4/21/09, weighed 4lb 6oz, and was 17” long. After 7 days in NICU to establish feeding, address jaundice, and assess her health, she came home with us on an apnea monitor and with a N/G tube for feeding. She weighed 4lb 1oz. An oxygen monitor was then added to the entourage of medical accessories. At the 2 week mark, she was 1 ounce past her birth weight and appears to be doing well overall except for several bouts of bradycardia (low heart rate), and apnea (stop breathing) during each day that requires physical stimulation to reverse. Those episodes got worse, and she was admitted to the PICU at 6 weeks old. At about 7 weeks, it was determined that she had severe obstructive apnea and the easiest and most effective treatment would be a tracheostomy. She got a trach and g-tube, and we haven't looked back since!

Every day with Rebekah is a blessing from God. In utero, she was diagnosed with a VSD hole in the heart, only one kidney was ever seen, brain abnormalities, and she has two rocker-bottom feet with one twisted to the side from malformation of the bone. Once she was born, it was verified that her VSD had closed in her heart, and a renal ultrasound showed TWO kidneys (she has a horseshoe kidney)! She actually fed exceptionally well by bottle, another exception to most T-18 kids. But once she was trached, she was unable to suck as strong as she needed to keep feeding exclusively by mouth.

Our children adore their baby sister and she brings much joy and love to our household. We thank God for this precious child and the path we are on with her.

Rebekah Faith is 'Redefining Incompatible With Life' everyday!

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Thursday, May 3, 2012

Against the Odds - Living with Trisomy 18

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