Wednesday, May 9, 2012

Little Miss Darcie Do. Official Diagnosis.

We went for Miss Darcie's 2 week check up on March 8th. She weighs 5 pounds 1 ounce. She is doing well she is just tiny. Doctor says she is strong and her muscle tone is excellent. He declares she is a top notch baby.

Her blood test for Down syndrome came back and shows she actually has a rare form called Mosaic T-21. This means not all of her chromosomes are effected. She has a typical cell line and a T-21 cell line. People with this form of Down syndrome generally do not have as many health issues. The typical features you find with most people who have Down syndrome are not as noticeable with the Mosaic form. Many people who have Mosaic T-21 are not diagnosed until later in life because it is easy to miss the signs.

The doctor did a cheek swab to collect skin cells to test what percentage of her cells are T-21. It will take a couple of weeks to get the results.When we get the test back it shows she is 85% Mosaic and 15% typical. This may change over time because as cells regenerate the typical cells tend to replace the T-21 cells.


Darcie's first week slideshow:
  
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