Britney - posted on 08/12/2010 ( 12 moms have responded )
Ok so i have a son who will be 4 in September and a daughter that is almost 3 months. He was born perfectly healthy so when i found out i was pregnant again i thought it would be the same. After a pretty easy c-section she was born 7lbs 4oz. She took a little bit to breath but i was told that was normal for c-section babies. They also told me she had a heart murmer but that was pretty normal and would go away soon. When it didn't by the time we left the hospital they told me she needed to be seen by a cardiologist so later that week we went to see one at the children's hospital. They told us some pretty upsetting news, they said she had pulmonary valve stenosis and they would need to do a balloon procedure to try to open the valve. They also say something funny with her eyes and told us to go see a pedi eye doctor at the hospital. They also kept saying she had some odd facial features. I didn't quite understand this since she looked so perfect to us. The next week we went to her eye doctor and they said she had Coloboma in both of her eyes and that she was legally blind, more awfull news. They also kept saying she had odd features and suggested CHARGE syndrome, so we were told to see a genetic doctor. We went to see the genetic doctor and they had a few test they wanted to run because of her health problems and her odd features and told us it would take a few weeks to get the results. So we waited. She eventually went in to have the balloon procedure done (this was one of the worst experiences of my life.) My husband and I tried to stay calm and went to eat lunch, about one hour into the procedure we recieved a phone call from one of the nurses in the operating rooms that said they were not doing the balloon procedure and we needed to wait in the consult room so we did. The doctor came in and gave us some of the worst news anyone could ever get about their child. He said that she did not have pulmonary valve stenosis, in fact it was far more and much worse problems, i will not go into detail about what kind of problems it was but he said she would need open heart sergury by the time she was 18 months old. It devistated our family. The night i was at home awake with her and she stopped breathing so i had to stimulate her to get her to start. After about two times i woke my Husband and we called my mom to come watch our son and we took her to the hospital, after about a week there they fould out she had a floppy windbox and they needed to do sergury on it to fix it. We were very worried but relieved it wasn't more serious and could be fixed. Two days after the sergury we were able to go home. The day after we got home she started throwing up and choked, stopped breathing and turned blue. She did that two more times during that week but thankfully not since they fixed her acid reflux meds. We later found out from the genetic doctor that she did not have CHARGE in fact her chromosome abnormality was much more rare. In fact there are only about 170 cases ever diagnosed. She has Mowat-wilson syndrome, this explaines the health problems but has many more to come. Seizures, missing parts of the brain, mental retardation, may never speak and if she does it will only be a few words, may never walk, can never have children. We are now glad we found out what is causing these problems and what to expect, it has and will take a lot of time to deal with all that has and will go on but it is getting better. I don't want to sound selfish but i am glad i can take the blame off of myself, i thought i did something wrong. I know this is a long story but i am telling you this because for the almost three months my baby girl has been alive someone has been up with her at all times. I have stayed up with her all night up until about 9am so my husband can sleep and then get up at anywhere between noon and 2pm depending on what time an appointment is so i can still spend time with my son. I really do not want him to feel left out or neglected. I can count on one hand the times i have been able to sleep more than 6 hours a day or been able to sleep at night. It is really taking it's toll on me but i am so scared something will happen to her and my sleep is not worth it. All of this just really caught us off guard. I really need to know if there is anyone out there who is or ever has been in a similar situation. Or maybe someone can please tell me if im not crazy for doing this. Im sorry this is so long. Thank you.