Today Arlyn had a fantastic day! She weaned down to high flow nasal cannula this evening and at 2100 she will be to goal on her tube feeding and they will start fortifying my breast milk to help her gain weight. This morning I was able to give her first bath by myself and she is wearing baby cloths for the very first time. It was so nice to see her hair again after days in her astronaut helmet. Overall the progress shows in the picture of her below she is quite the little trooper.
Dressed to impress
daddy and Arlyn watching Ninja Turtles
Loving the baby swing
Today we talked to the doctors and found out her genetic testing came back with a diagnosis of turners syndrome, mosaicism type. There are three different forms of Turners and the spectrum in which this can affect her varies. Mosaicism type gives less symptoms because some cells still have XX chromosomes and some have only one X. I am not to familiar with Turners syndrome but know that she will have an endocrinologist, likely be a small little girl, likely go into puberty late and need hormone therapy and there is only 1-3% chance she will be able to conceive on her own to get pregnant. I know many people may have questions about this but I am just learning.
For more information go to: www.turnersyndrome.org
Definition:
Turner Syndrome (TS) is a condition that affects only girls and women. It is identified by a difference in the genetic make-up of those who are affected. Most girls and women have two complete X chromosomes (the sex chromosomes for females). Turner Syndrome is caused by the absence of all or part of the second X chromosome in some or all of the cells of the body. The most consistent features of TS are short stature and lack of ovarian development. A synthetic form of human growth hormone (GH) is available for medical use. GH is sometimes given to girls with TS to help them grow. GH therapy may be used as treatment in cases of growth hormone deficiency, or short stature. At the typical age of puberty, girls with Turner Syndrome are usually prescribed hormone replacement therapy to induce normal female developmental changes. This therapy is often continued through most of the adult years.
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