Sunday, April 15, 2012

HOLY GENES!?........... Are you kiddin me?????

This is more of an informative post rather than a personal post. I'm going to give you all some general information on 10p13 terminal deletions. However, Emma may have very mild, severe, or HOPEFULLY very few of any of these health problems. This blog is about individuals with 10p deletions. Emma's medical conditions with each be explained in their own blog so that you can take the information in one at a time because TRUST ME... its A LOT to take in! My goal with this blog is hoping to help all of you better understand Emma's conditions, the problems she will face throughout her life, and most importantly what a blessing she is to everyone who has met her and will meet her in the future.
A chromosome 10p deletion means that part of one of the body's chromosomes has been lost or deleted. If the missing chromosome material contains important instructions for the body, learning difficulties, developmental delay and health problems may occur. How serious these problems are depends on how much of the chromosome has been lost and where the deletion is.

HDR Syndrome (Barakat Syndrome):
"H" stands for hypoparathyroidism. Embedded within the thyroid gland at the base of the front of the neck are four minute hypoparathyroid glands that release a hormone, PTH, whose function is to regulate calcium levels in the blood. When the GATA3 gene is missing or mutated, the glands may not develop completely or they may be missing altogether. This results in hypoparathyroidism and the main effect is an abnormally low level of calcium in the blood, known as hypocalcemia. (This is why Emma had the apnic episode at the Olive Garden. Emma's calcium level was 0.06 and regular levels are 8.0 and above!) Hypocalcemia is treatable through oral medication which Emma is on two different kinds at this time. She does has small calcium deposits in one of her kidneys, this is called nephrocalcinosis. Emma's hypoparathyroidism is being treated with special formula and several medications. They monitor her blood work on Mondays and Thursdays every week to make sure her levels are all staying where they should be.

"D" stands for deafness. Which Emma hasn't passed her hearing tests yet but we know she is hearing some by the way she reacts to things.

"R" stands for Renal. At this point Emma has a specialist out of St Louis who comes and sees her once a week and is NOT having or showing any signs of kidney OR heart abnormalities SO I'm not even going to worry you with describing this part of the Syndrome. Just Praise God when reading this part!! :) She will most likely have a weakened immune system due to developmental delays in the thymus gland. Since she is currently fighting pneumonia we are finding out how strong her immune system is and if she is going to be able to fight off infections on her own or is going to need a lot of assistance.

Emma has two chromosome 10's just like everyone else. However, on one of Emma's chromosome 10's she has a break in her p13 that is terminal which means from p13 to the end is broken. So, Emma is missing her 10p13, 10p14, and 10p15.   

This is a basic summary. My goal was to make it short because there is so much information. However, in a nut shell- this is Emma's genetic abnormalities.

If you have any questions you can leave a comment on this post and I will try to answer it. Emma also has her own genetic counselor who is a great help. Any questions you may have, ask away! I will get the answers. Hope this helps some of you better understand a 10p13 terminal deletion.
{So what you are saying is my genes don't fit right?!?!} 

1 comment:

  1. holy cow!!! my son is 14 and we were just told he had a 10p13 deletion, he is missing over 20 genes....


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