http://www.pharmgkb.org/do/serve?objCls=Chromosome&objId=PA502
This link shows a picture of chromosome 21. If you noticed from some of the other pictures, this is actually one of the smaller chromosomes. It is astonishing that something so small can have such an effect on how we are created!
From the beginning of band 22.2 on the q-arm down, Ivey's 21st chromosome has been deleted.
Why? We can't truly answer why.
Genetically, Matt and I are fine. Normal.
More than likely there was a flaw in either the egg or the sperm. One or the other was missing that section of the chromosome. For some reason, that bit of information was left off when the egg or sperm was formed. That piece of the chromosome was just left off! Thankfully, there is no means to know which cell it was.
Geneticist do have an idea of characteristics located on the 21st chromosome. How this information from chromosome 21 is utilized and how it influences the function of other chromosomes is still unclear. However, certain known medical issues can be associated with chromosome 21. For example markers on chromosome 21 include, Alzheimer disease, breast cancer, epilepsy, deafness, leukemia and of course, Down syndrome. Through research, the information contained in chromosomes can potentially be unlocked.
So many people have asked questions about my pregnancy with Ivey. Why, why, why???? We didn't know about her condition. Fortunately, Ivey was the third baby. We had something to go on. Based on two pregnancies that resulted in two incredibly healthy boys, my pregnancy with Ivey was no different. Well, take that back, I was a little tired, but I was chasing a two-year old and a one-year old around all day! (Keep in mind, Knox turned 3 in March; Ivey was born in April. He was still two! Walker was one! It seems almost physically impossible.)
Ivey moved, kicked, flipped and hiccupped. The ultrasounds looked normal. Tests cameback normal. Trust me when I say, my OB has gone over my records with a fine toothed comb. How could my doctor instinctively know something was different when the mom carrying the baby had no "mother's intuition" about the development of the baby inside? I was with her 24/7..... Maybe the cleft lip could have been apparent, but only if she would have turned to reveal it. It's funny, when we did the 20 week ultrasound, Ivey would not turn for a profile. She refused. The technician tried several times. We pushed and prodded, tried shifting sides, but she just wouldn't budge! As a result, her cleft did not reveal itself. Her eyes you ask? Eye tissue is not visible in the pictures. Still, Ivey as a whole would and needed to be revealed at her birth as the miracle that she is. There have been many God moments on this path with Ivey, looking back, that 20 week ultrsound had a God moment. She was in the make to be who she is. By that point, it was in God's hands, still is.
Of course I did all of the genetic screening via blood work. Still, there is not a test for ‘everything‘. Actually, only a few tests are available for only a very small array of genetic abnormalities. Then the question arises, 'What about amniocentesis, etc'? Once again, I had two very healthy pregnancies prior to Ivey. And, I am only a 31 years old, not yet an age to call for amniocentesis.
Research is on going to identify genetic abnormalities. Maybe once there is a mode to identify these differences in genetic makeup, research can persist and acquire ways to better assist individuals with genetic abnormalities. That is our future. Ivey has the potential to help other babies that will be born Special. Through Emory University, samples of Ivey’s blood will be studied in hopes to aide in development of new and better chromosome testing technology. Ivey's contributions to this world will far expand any that I had ever intended for myself.
She will always be Ivey, but think of the new souls that she has the potential to touch.
She is an Angel here on Earth.
This link shows a picture of chromosome 21. If you noticed from some of the other pictures, this is actually one of the smaller chromosomes. It is astonishing that something so small can have such an effect on how we are created!
From the beginning of band 22.2 on the q-arm down, Ivey's 21st chromosome has been deleted.
Why? We can't truly answer why.
Genetically, Matt and I are fine. Normal.
More than likely there was a flaw in either the egg or the sperm. One or the other was missing that section of the chromosome. For some reason, that bit of information was left off when the egg or sperm was formed. That piece of the chromosome was just left off! Thankfully, there is no means to know which cell it was.
Geneticist do have an idea of characteristics located on the 21st chromosome. How this information from chromosome 21 is utilized and how it influences the function of other chromosomes is still unclear. However, certain known medical issues can be associated with chromosome 21. For example markers on chromosome 21 include, Alzheimer disease, breast cancer, epilepsy, deafness, leukemia and of course, Down syndrome. Through research, the information contained in chromosomes can potentially be unlocked.
So many people have asked questions about my pregnancy with Ivey. Why, why, why???? We didn't know about her condition. Fortunately, Ivey was the third baby. We had something to go on. Based on two pregnancies that resulted in two incredibly healthy boys, my pregnancy with Ivey was no different. Well, take that back, I was a little tired, but I was chasing a two-year old and a one-year old around all day! (Keep in mind, Knox turned 3 in March; Ivey was born in April. He was still two! Walker was one! It seems almost physically impossible.)
Ivey moved, kicked, flipped and hiccupped. The ultrasounds looked normal. Tests cameback normal. Trust me when I say, my OB has gone over my records with a fine toothed comb. How could my doctor instinctively know something was different when the mom carrying the baby had no "mother's intuition" about the development of the baby inside? I was with her 24/7..... Maybe the cleft lip could have been apparent, but only if she would have turned to reveal it. It's funny, when we did the 20 week ultrasound, Ivey would not turn for a profile. She refused. The technician tried several times. We pushed and prodded, tried shifting sides, but she just wouldn't budge! As a result, her cleft did not reveal itself. Her eyes you ask? Eye tissue is not visible in the pictures. Still, Ivey as a whole would and needed to be revealed at her birth as the miracle that she is. There have been many God moments on this path with Ivey, looking back, that 20 week ultrsound had a God moment. She was in the make to be who she is. By that point, it was in God's hands, still is.
Of course I did all of the genetic screening via blood work. Still, there is not a test for ‘everything‘. Actually, only a few tests are available for only a very small array of genetic abnormalities. Then the question arises, 'What about amniocentesis, etc'? Once again, I had two very healthy pregnancies prior to Ivey. And, I am only a 31 years old, not yet an age to call for amniocentesis.
Research is on going to identify genetic abnormalities. Maybe once there is a mode to identify these differences in genetic makeup, research can persist and acquire ways to better assist individuals with genetic abnormalities. That is our future. Ivey has the potential to help other babies that will be born Special. Through Emory University, samples of Ivey’s blood will be studied in hopes to aide in development of new and better chromosome testing technology. Ivey's contributions to this world will far expand any that I had ever intended for myself.
She will always be Ivey, but think of the new souls that she has the potential to touch.
She is an Angel here on Earth.
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Mon
P.S. Gwen when this settle down, I am holding you to our lunch date.