Trinity
Micro-deletion Chromosome 16p 13.3
Trinity was born with Rubinstein-Taybi Syndrome on July 21, 2000. She weighed 5lbs 5 ozs. and was 17 ¼ inches long. Trinity was not premature, but her mother did have pre-term labor in her 8 month due to polyhydraminous (excessive amount of amminiotic fluid). During that time they discovered that there was a two week growth retardation in the baby. Her head, stomach and femur all measured differently. Trinity was born at 38 weeks. We knew before Trinity was born that there was going to be something genetically wrong with her due to the polyhydraminous, but we didn’t know what. RTS can’t be diagnosed prior to birth and not always right after birth and it is not hereditary. She was diagnosed 12 hours later due to difficulty in eating and then the neonatologist started noticing different features about her, such as her hands (broad thumb), feet (first big toe and deep crease on the bottom between her first and second toe, the second and third toes are fused together), eyes (broad bridge), ears (lower set), high arched palate, small mouth, small chin. We almost lost her several times, due to her eating and aspiration of liquids. She does not eat regular food well due to eating and swallowing issues, so she is on Pediasure for her main nourishment.
Trinity was born with many medical issues related to RTS. One month after she was born she was transferred to Children’s Hospital in New Orleans, La. for further treatment. She was diagnosed with Pulmonary Valve Stenosis, ASD, and a heart murmur, kidney reflux at 3 months to present, GTC seizures, developmental delays, non verbal, strabismus (2 surgeries), feeding tube for 8 months after birth, several episodes of aspirational pneumonia, April 2003, Trinity passed 2 kidney stones, constipation is always present.
Trinity’s cognitive age is between 6-10 months and other areas it is a little higher, such as her fine motor skills. We have therapist that come to the house to work with her weekly and she is homebound taught, due to her immune system is so weak at time.
My precious Trinity has endured a lot in her 4 years of being here on this earth, but there is one thing I can tell you, she is a FIGHTER. This little girl is the most lovable, huggable and has a smile and laugh that will make you just melt.
At present, there are about 1000 children from all over the world afflicted with Rubinstein-Taybi Syndrome. The ratio is about 1 in 150,000 born. If you want to read more about RTS go to: www.rubinstein-taybi.org