Showing posts with label Digeorge. Show all posts
Showing posts with label Digeorge. Show all posts
Friday, March 5, 2010
Stomach virus causes seizure.
Brookie has had the stomach virus for the past 3 days and has been trowing up every thing she eats and drinks (including her medicine). With out having her Calcium, Anti seizure, and heart meds she get even sicker. Tonight (march 5, 2010) Brookie was taking a bath with her little sister, and they were playing and having fun. I felt Brookie fall over and hit my arm while I was washing the baby. I thought that she had just lost her balance so i tried to sit her back up then I realized that her eyes were rolling back in her head and that she was not breathing and starting to become blue around her mouth, her body was very tense. She was having a seizure. I started to yell for Ben all while trying to calm Bryson (who has never seen her have a seizure) and reassure him that his baby sister is going to be okay. After about 3 minutes and Ben having to do some rescue breaths she came out of it. She is resting right now and we are going to watch her to make sure that she doesn't have anymore within 24 hours, and since it didn't last longer than 4 minutes they doctor told us that she didn't need to go to the hospital unless there was something else we were concerned about.
Tuesday, February 9, 2010
receiving our diagnosis!!!
When I was pregnant with Brooklyn, at my 20 week check up I was told that we had the option to do a blood test called the quad screen to test for risk of genetic defects such as neural tube defects, trisomy 21, 13, & 18. Thinking that of course there was absolutely nothing wrong with my baby girl we agreed. Not thinking much more about the test I received a call from my OBGYN stating that I need to see a high risk Ob doctor and speak with a genetic counselor to discuss the results of our quad screen.
The genetic counselor explained to us that our results were for high risk of a chromosome abnormality called Trisomy 18, this is when 3 copies of chromosome 18 are present. She went on to explain that T18 is considered to be "Not compatible with life." and that most babies with T18 don't make it to Birth and if they survive birth it is not likely that they will live more than a couple hours, maybe days. Doctors will perform no measures to save these babies lives.
We were devastated to say the least. She told us that a High resolution ultra sound would be able to tell us more and get a more definite answer. During the ultra sound I remember asking the sonographer if every thing looked to be normal, she said "I can not say the doctor will be in to discuss the findings with us in a moment. " The doctor said we believe that your daughter has a heart defect called tetrology of fallot this further confirming the possibility of a genetic defect. She explained that we could do an amniocentesis to get a 100% diagnosis of a genetic defect.
We agreed to do the amniocentesis and I remember waiting for the results seemed like such a LONG wait my husband an I were both so anxious. As we both listened on the phone receiver, we heard "your amnio test results were NEGATIVE!!! for Trisomy 18 (I could have jumped through the roof) then I heard the genetic counselor say BUT, Your daughter's results for a test called FISH came back positive. This means that your daughter has Velo-cardio facial Syndrome (VCFS) a deletion of a portion of the 22nd chromosome. "
Having absolutely no clue as to what this was I started to Google like crazy, trying to find out everything I could!! To be the second most common genetic defect (1 in every 2000 births) my husband and I, along with all of our family had never even heard of it.
The genetic counselor explained to us that our results were for high risk of a chromosome abnormality called Trisomy 18, this is when 3 copies of chromosome 18 are present. She went on to explain that T18 is considered to be "Not compatible with life." and that most babies with T18 don't make it to Birth and if they survive birth it is not likely that they will live more than a couple hours, maybe days. Doctors will perform no measures to save these babies lives.
We were devastated to say the least. She told us that a High resolution ultra sound would be able to tell us more and get a more definite answer. During the ultra sound I remember asking the sonographer if every thing looked to be normal, she said "I can not say the doctor will be in to discuss the findings with us in a moment. " The doctor said we believe that your daughter has a heart defect called tetrology of fallot this further confirming the possibility of a genetic defect. She explained that we could do an amniocentesis to get a 100% diagnosis of a genetic defect.
We agreed to do the amniocentesis and I remember waiting for the results seemed like such a LONG wait my husband an I were both so anxious. As we both listened on the phone receiver, we heard "your amnio test results were NEGATIVE!!! for Trisomy 18 (I could have jumped through the roof) then I heard the genetic counselor say BUT, Your daughter's results for a test called FISH came back positive. This means that your daughter has Velo-cardio facial Syndrome (VCFS) a deletion of a portion of the 22nd chromosome. "
Having absolutely no clue as to what this was I started to Google like crazy, trying to find out everything I could!! To be the second most common genetic defect (1 in every 2000 births) my husband and I, along with all of our family had never even heard of it.
Subscribe to:
Posts (Atom)