The Heart and Soul Family: Test Result

Saturday, December 12, 2009

Test Result

The genetic counselor called with our Ultra Screen results and it was perfect. Less than 1% out of 10,000. This was a huge relief. I know we're still not out of the woods but it brings me a little peace. Next step is getting the fetal echo to check on the heart. Hopefully we will get that scheduled in January.

5 comments:

mina said...: Great news!; December 13, 2009 at 1:24 PM
The Portas said...: What a huge relief! So glad to hear the news.; December 14, 2009 at 1:04 PM
Unknown said...: I am so glad for the good news.
Have a good week.; December 14, 2009 at 4:00 PM
SUE AND SHAY said...: I am so excited for you guys!!!!!
Arianna is going to make a great big sister!!!!; December 15, 2009 at 11:13 AM
Amyacl said...: Excellent news! I hope the fetal echo goes just as well!; December 15, 2009 at 11:34 AM

Arianna Marie

Arianna was born on 11/26/06. 4 weeks premature, and weighing 4lbs 13ozs. She was born with a congenital heart defect called Tetralogy of Fallot, which is actually 4 heart defects, and was later diagnosed with an ASD. She had open-heart surgery on 5/22/06. Her surgery was to patch the VSD, patch the ASD, widen her pulmonary artery, and attempt to fix her pulmonary valve. They created a man-made pulmonary valve out of myocardium to avoid a conduit placement, which would require multiple surgeries. On September 21st, 2012 we got the news that Arianna's right ventricle pressures are too high and she needs a pulmonary valve placed. When we meet with the surgeon we found out she also has pulmonary branch stenosis and a possible defect in her tricuspid valve. He will be addressing all of these issues at the time of surgery. On October 18th, 2012, Arianna had her 2nd open-heart surgery.

At 5 weeks old she was diagnosed with a genetic disorder called 22q11.2 Deletion Syndrome, which is caused by a deletion of a small segment of the long arm of chromosome 22. This disorder has many names such as 22q Deletion syndrome, Velo-Cardio-Facial syndrome, DiGeorge syndrome, Shprintzen syndrome, and Catch 22. So far there has been more than 180 anomalies reported in this syndrome, which is highly variable from person to person and no individual has all of the anomalies. Arianna has overcome many obstacles and we find peace in knowing that God is working miracles in her life. We set this site up to share our family journey. We know that God has a special plan for Arianna and our family!

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Saturday, December 12, 2009

Test Result

5 comments: