Bryson's Blog

Living with Trisomy 13

Monday, June 26, 2006

What is Trisomy 13 or Patau's Syndrome?

As many of you may already know, my Grandson, Dana & Travis' son Bryson was born with a very rare syndrome called Trisomy 13 or Patau's Syndrome. Many clinicians and doctors will no doubtedly say that the Syndrome is "not compatible with sustaining life" or the child will have a "failure to thrive." They tell you to take your baby home and love him and give him comfort and that there is nothing that they can do. They even prepare a DNR order for you.

Most babies with Trisomy 13 either are miscarried, or stillborn and only 1 in 10,000 resulting in a live birth. Bryson has already bucked those odds by being born at full term and at 9 pounds 3 ounces. I pray every day that he will continue to stump us and the doctors. I'm not saying life with Trisomy 13 is easy, it is not...it's a very hard road to travel. This leads to the question of Ethics. What is proportionate or disproportionate Healthcare with Trisomy 13?

http://www.ascensionhealth.org/ethics/public/issues/trisomy.asp

The following link had the most comprehensive description of Trisomy 13 and many of the problems children diagnosed with it are faced with. There are four forms of Trisomy 13, Full, Partial, Translocation and Mosaicism. Bryson has been diagnosed with Full Trisomy 13. To assure you, it is not genetic or hereditary, but a chromosomal disorder or a "fluke" of an extra chromosome 13 slipping in at conception from either the sperm or the egg; then further with each cell division during fetal development the extra chromosome 13 is in each and every cell. (Full) This sends out mixed up signals in the developing fetus where things are to go and how everything is formed.

http://healthresources.caremark.com/topic/topic100587269

Bryson has some scalp defects (cutis aplasia), small eyes (micropthalmia); a cataract on his right eye and a misformed iris in the left (Coloboma) he is likely partially or fully blind. He has cleft lip and cleft palate, calcification on a part of his brain, underdeveloped lungs, a small hole in his heart (ASD or Atrial Septal Defect); cysts on his kidneys and on his spleen; abnormal genitalia; undecended testes; six fingers on each hand (Polydactyly) and six toes on his right foot.



0 Comments:

Post a Comment

Links to this post:

Create a Link

<< Home