Kerah
Mosaic Trisomy 16
Well, it's a long one, but here goes!
It all started in January of 1999, when I had my routine MSAFP test done. I was supposedly 20 weeks pregnant. It came back too high, so the doctor figured that the test was taken too soon. I had an ultrasound to figure out the gestation. It showed that the baby was not as far along as they thought, so I had another MSAFP. This time the results came back even higher, so they suggested that I have an amniocentesis. Steve and I decided to take the risk, and had the test. It seemed like eternity waiting for the results. We told each other that everything was going to come back "normal". It was all we could do to keep our sanity.
The day finally came when we got the unfortunate and confusing call. All the technician could tell us was that the baby had an extremely rare chromosome disorder called Mosaic Trisomy 16. I remember him saying, "Well, it's not Downs Syndrome!" (They should give these people a class on how to be a little more compassionate on the phone!) He said he didn't know anything about it and that we would have to talk to a doctor to find out more. We made an appointment with a genetics counselor. She didn't know much either, but said that she would help us try to get some info on our daughter's disorder.(We found out while we were there that we were having a girl!) We told her that we mentioned the name of the disorder to my mother who went on line to see if she could find anything there. Well, she found THIS awesome site, which told us more than anyone else could!
So, our counselor checked it out and I believe she spoke to Karen a few times. Karen sent her the info she had on some other similar cases and our counselor showed them to us. Now we had something to go by! We had a serious discussion on the possible anomalies our daughter could have and yes, the "A" word came up. We knew that there was no way we could abort our child. We left it up to God! If He didn't want our baby to be here, than He would have to take her! A couple of people in our family didn't agree, but everyone else was very supportive! Well, we had to be prepared for our baby's birth to be any given day, since alot of other babies were born pre-mature.
Time went by and I stayed pregnant, we were very well cared for. The doctor's were taking every precaution they knew to. I would also like to add that NO doctor we went to had ever heard of this disorder, we had to bring every bit of info to them!
My doctor decided to induce me 1 week early if I hadn't already gone into labor. That would have been June 28th. Well, my water broke on the morning of June 25th. The fluid was very blood tinged, my placenta had already started to detach. They watched me closely and towards the end of my labor I had to use an oxygen mask for the baby. Other than that, there were no other complications. When Kerah was born(weighing 5lbs 4 oz and 17-18 in.), she needed a little oxygen, and then a little more here and there through out the day. They looked her over and decided that she was in no real danger, thank God! We are not sure what Kerah received on her APGAR test. Kerah had trouble eating at first, and her blood sugar level was very low, but that all got better a day or two later. We actually got to leave the hospital on the afternoon of the 27th!
I should also mention that Kerah had some x-rays a couple hours after she was born. They thought something was wrong with her spine. We were told that she had some scoliosis, then later that she didn't, and again that she had just a touch of it. So we don't know for sure which it is. We do know that she had a 2 vessel umbilical cord, and that the cells of her disorder did show up in the placenta. Her doctors said that there's no point in doing a skin biopsy because all it will do is confirm what we already know. I, on the other hand would still like to have it done.
Some of her anomalies are: 2 small VSD's (holes on the heart) that supposedly are closed now; dextrocardia-her heart is off center and tilted the wrong way; asymmetry-her whole body, eyes, ears, nostrils, arms, legs...are not the same size as the other, even her hair is different on both sides of her head, and because of this she has to have an ultrasound of her kidneys every 6 months, because 2% of all people with this anomaly will develop tumors in their kidneys; congenital glaucoma-she's had surgery for this and it is temporarily fixed, she may need another one in the future; she is taking 2 inhalers twice a day to help keep her RAD(formerly known as asthma), under control, ever since she's had a bout of RSV, she's had to be hospitalized and put on oxygen and nebulizing treatments any time she had a cold, but these new inhalers, so far, are doing the trick.
Those are the main ones. Kerah has had numerous chest x-rays and an ultrasound of her kidneys-which came back normal, a CT scan, barium swallow studies, and an MRI-the top of her spine didn't close properly, but everything seems to be with in normal ranges. She is currently taking PT and Speech, she also had OT for over a year and progressed well enough to stop that for the time being.
It's amazing how
far she's come with all her therapies, no one can even tell that she's a
special needs baby. She's almost 2 now and she's more spunky than ever.
She's still very petite, but at least we got her from under 5% to over
10%. Cognitively she's doing fine, it's hard because she can't express
herself as well as "normal" kids her own age. We are learning sign
language and that helps alot! She can sign around 15-20 words now. It's
definitely looking more and more like Kerah
is going to lead a normal
life.
I would just like to thank Karen and all the other parents for sharing their stories, they really helped, and I would like to do the same! So for all the other struggling parents out there, please don't give up hope, we all know what you are going through, it is hard, but you and your children can make it!