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In our case, it was a complete shock to me!
My daughter was born on July 4th, 2006 - and it wasn't until August 18th that I found out that I was the carrier for the gene.
Its only been 2.5 months since I found out a bit about the diagnosis, but I am still blaming myself for it. I am trying really hard to get through it.[/b]
Anika's disabilities & special are a result to a prematurity/birth injury/injury as a neonate- so it was a shock to us too. It's hard not to blame yourself, , but it's not our fault- we just have to get through that and move on.
No we didn't know. The did a the regular u/s and saw that something didn't look right.
I kept seeing a specialist had a fetal MRI and and a amnio trying to figure out what was going on with my son. They were never really sure if he would be healthy or have some condition.
At birth he has breathing issues, since they knew something might be wrong with his brain they did a lot of testing and then diagnosed him with Joubert Syndrome at 4 days old.
It was a shock. It is genetic so we now know to be prepared with each pregnancy.
Wife to Brian since October 2004, Mama too:
Jakob (May 12th 2004- Feb. 24th 2009 Had Joubert Syndrome RIP)
2 Baby beans lost
Ava Sept 14th 2007, Beaux Oct 3rd 2012
* Tubal reversal December 17th 2010
I had no idea that anything was wrong or I carried anything in our family. We had a gentic test after all this and we are all normal, whatever that means. I don't know if they missed it or how that all works.
We still do not know what is wrong with Sonora. She just had an MRI on Thursday and and ERG, which tests the information from her eye to her brain (that was normal) however her MRI now came back abnormal. It seems that the white matter of her brain has not grown since her last MRI 6/7 months ago. What that means I have no idea. We meet with the neuologist on Friday and he can tell us more. It could be a metobolic disorder but I do not know. I am going to post this on the website to see if anyone else has any information.
We also had no idea anything was wrong with Sydney when I ws pregnant, as a matter of fact, we didn't know anything was wrong until her 4 month check up when her head meaurements fell off the curve. She has a possible genetic problem call MMA (Methylmalonic Acidemia). We are getting ready to go see a doctor who specialized in metabolic disorders up at John Hopkins next Monday. We leave Sunday.
We had no idea at all that we were recessive carriers of a rare disorder. In our case there are only 200 kids in the world with Cockayne Syndrome, so even the doctor's had no clue for the longest time.
It's sad finding out, though. Especially because our disorder means our daughter will die.
With Gavin it was a complete shock. Cancer runs in my family ecsp. my fathers side but the Cancer Gav has is not genetic so it was a shoick. And I think what I was in awe of as well was the fact that while I was carrying him his Cancer was growing in his body. For a long time I felt very guilty but I had to realize how could I have known he showed no signs of it and I`had a very easy pregnancy.