Mosaic Trisomy 16
I found out the news, which we waited to hear for 5 years, that I was pregnant on July 6th 2001. I was so excited, worried, scared and in shock!! But that baby could not have been more loved, and more wanted, from that day on. We fought for that baby, and we were going to do everything we could to keep it!
We had the routine AFP test done in the end of September. I had done it with our first son, and it had come back normal, I expected nothing less from it this time. Also, figuring that if it came back with something wrong, they would call before my appointment.?
I went in for my routine appointment - and got the shocking news. The AFP test had come back with a DOUBLE positive! A 1:165 chance for Downs Syndrome and a 1:98 chance for Spina Bifida - how it could come back with both, I don't know, but it did. We decided to have an amino done to find out for sure what was wrong.... and get the side benefit of finding out if it was a boy or a girl.
We went in for it on October 16th, and ended up not getting it because my Doctor was doing an emergency c-section. So, we ended up having it on the 19th.?? We went in on the 30th, the day before Halloween, to find out the results. I was scared, but yet I wasn't. I knew everything was going to be fine, no matter what. We got in there, and he told us the baby didn't have Downs or SB, but something called Mosaic Trisomy 16. I didn't expect it, but in a way, it didn't really shock me either. Then he said "Oh, and by the way, it's a boy!".... I came home and started doing some homework - and was scared when I found nothing on it. And then I found the DOC16 site, and my salvation in knowledge!!
It was an interesting pregnancy - with lots of little things going on. The baby's fluid was low, and the placenta small and obviously not doing it's job because the baby was very small for it's gestational age. If it wasn't for the support of my family, friends, doctor and Karen - I don't know how I would have made it through all the unknowns. Even though we were asked, there was no way we would "terminate" our pregnancy with our miracle baby. We heard his heartbeat for the first time when he was 6 1/2 weeks - he was so beautiful on the ultrasounds - and he even waved and smiled at us on the ultrasounds. And everytime he kicked, it was a reminder, "Hey, I'm here! I'm ok!!"
On January 28th I went in for a NST (non-stress test) and my blood pressure was up. I was having contractions, and the baby had a heart deceleration. I was told to take it very easy and to come back the following morning for another one. So, on the 29th, I dropped my son, Calahan, off at school and then headed to the DRs. I thought it would be the same as the day before - my 1/2 hour to hour appointment taking another 3 hours. I never expected what happened... my blood pressure was very high, and our baby had A LOT of heart decelerations. My DR sent me straight to the hospital after giving me the first shot to help mature the baby's lungs. I was very scared, but hoping to go home.
But I never did. I spent the rest of the week in the hospital, on the fetal monitor 24 hours a day, getting my blood pressure checked very often, and watching the baby's heartbeat drop again and again. I had developed Pre-eclampsia quickly, the baby was having more heart decelerations, and there were a lot of other little red flags going up - stressing it was time to get him out, before something happened. The last straw was the amino done on the 31st of January, when the fluid had come out a pale yellow, instead of clear.?
The morning of February 1st, my Doctor told me that he was no longer giving me the choice of staying or going to the high risk hospital 2 hours away, with the much better NICU - I was going. I wouldn't deliver that day - they would probably do more tests, including another amino.??
I arrived in Marshfield sometime before noon. Whisked away into Labor and Delivery, and then set up on the monitor, given an ultrasound and they took blood. Then the team of Doctors came in, and told us. "We are going to deliver you TODAY!"
Noah Alexander was born at 3:45pm on February 1st, 2002. He came in weighing 1 lb 12.2 oz and was 13 3/4 inches long. My pregnancy had ended at 33 weeks, he was 7 weeks early. We didn't even know he was out - they didn't even let him attempt to cry. And we didn't see him until hours later. But everyone came in, telling us how beautiful he was. All I wanted, was to hear him cry!
Noah spent 6 1/2 weeks in the NICU in Marshfield, WI. Mom spent that amount of time at the Ronald McDonald House. I can't praise both enough. Even though we had good and bad days, hard and easy ones, it ended up turning into home away from home.?
Noah started breathing on his own at 36 hours old, and I heard him cry that day. He had/has minor problems - but no one knows if they are because of the MT16 or if they are because he was a preemie. He has a heart murmur, 2 holes in his upper chambers, and 1 in the lower. He has an umbilical and groin hernia. He had an enlarged right Kidney. He has a condition called a hypospadious - where the urethra is on the underside of his penis and not the tip. He also has a "natural circumcision." He had a little excess fluid on his brain, but nothing that was causing damage and we were later told that it was a "variation of normal." His eyesight is really good, except that his left pupil is egg shaped (currently) instead of round. We were told this would probably fix itself in time. His hearing is questionable, he passed on the right, but not on the left. We are still, currently going through testing on that. Most of the times I would only hear the DR tell me, for report in the morning, "Well, we're just waiting for him to grow!" They did testing on his placenta, and blood after he was born. The placenta contained 100% MT16, and the blood contained 0%. We are still waiting on his skin graph.
Despite all those little things, he is so beautiful and wonderful, and I thank God everyday for my perfect little baby! He came home on March 18th, the day after his St. Patrick's Day due date. He came home weighing 3 lbs 10 oz. He ended up back in the NICU for 5 days due to a cold. But we are back home now, and he is doing wonderfully!! He's growing everyday, thankfully, and he's being closely watched. Currently (4-4-02) he is 4 lbs 6 oz. And just barely fitting into preemie clothes. I have high hopes for his future, and him.?
Thank you for reading our story, as it is, so far.
Update November 2003
It's been about a year and a half since Noah's story left off. He's now 21 months, 17lbs 8oz and just shy of 30 inches. He's had trouble gaining/maintaining weight. But regardless, he keeps moving up in diaper and clothes sizes so something must be happening!
Medically he's doing amazingly well. He still has his heart murmur, although sometimes faint or hard to catch, he's being re-checked in a little over a year. His cardiologist was giving him until he was 3 for it to close up, and if not we may have to discuss surgery. His umbilical hernia he had healed on it's own. The groin hernia he had repaired in July of 2002, and he not only had it on one side, but both sides. He healed wonderfully from that. His Hypospadious was repaired in March of 2003, which also went well, and he healed fine from with no complications. He has an extra little dimple at the top of his behind, and they've seemed to always be concerned about that. First they had mentioned a form of Spina Bifida, and then ruled that out, and the newest thing was they thought the end of the spinal cord was wrapped around his pelvis in some way.
Neurologically he's still having some issues. He still seems to have some problems that were present at birth, but nothing really that they are concerned about. Except they believed, since the back of his head is flat, and he was born like that, that he may have had some premature fusing of the sutures in his skull. So he had to go through MRIs, CT scans and Ultrasounds. So they checked his skull and his spine with those, and found out his spine is fine. His skull is starting to fuse together in the front (forehead area) but not the back. They don't seem to be overly concerned about this, but want to keep a close eye on him. Hearing we still aren't sure on, but we know he hears fine, and he's talking so we assume there isn't anything wrong. He did have a lot of fluid build up, and small ear canals until recently and that may have something to do with the numerous failed tests he had. He only had one he passed, and he was put out completely for that one. Now his ears have cleared up and he hasn't gotten an ear infection for 6 months (he was getting them every other month and was on the verge of tubes), so we'll see when he goes back for yet another hearing test. We did get his skin graph back, from the MT16 testing, and it had 3 out of 30 cells with the extra 3ed chromosome. Not that anyone knows what this means, but it is what it is. The amino was 3 out of 10 cells it was present in, I believe. The placenta was 100% MT16 and the Cord Blood was 0.
Now beyond the medical things, he's a smart spunky little boy with an attitude to boot, despite his small size! He's just begun to walk 4 weeks ago, and he's got a vocabulary of around 30 words! He finally got 4 teeth since July and is finally starting to eat better. We had problems in the eating area, and continue to, but they aren't as bad. (Gagging Reflex mostly) He has been getting physical therapy for a little over a year now and started Speech Therapy early this year, and thrives in both. His Physical Therapist calls him the highlight of her week! Everyone is so amazed by this little boy who is so endearing and precious, that not many in the medical community would have thought would be was advanced and wonderfully healthy (not to mention alive) as he is! I can just look at him, still, and be amazed to tears by him! It started out as a scary journey, but has been a blessing of a miracle who has touched many people. Things might not be easy at times, and hurdles maybe high, but in the end - it was ALL worth it!
Update January 2005
Noah is now almost 3 years old (in only 2 weeks) and is doing very very well! He is about 23 lbs and 34 inches at 35 months. He has gone through a lot this past year, even though it has been a relatively quite year. He's had a lot of testing done due to the neurological questions (still basically the same questions as before), and his vomiting issues. He vomits during the day if the taste or texture of a food doesn't agree with him, or if he starts crying very hard around the time of his eating, which we basically associate with his oral sensitivity issues. The time we can't seem to figure out, that he's going through the testing for, is when he wakes up 2 hours after he falls asleep and vomits. After he gets it out - and everything is cleaned up - he falls right back to sleep. We've recently discovered - the past few weeks - that Noah usually has an asthma attack after the vomiting, so he is back on the nebulizer treatments. It use to happen a few times a week, and now happens maybe twice a month. Testing hasn't revealed anything concrete at this point in time. Hearing - he still has issues, although he is now passing tests. They are thinking he's got some hearing loss on his left side, specifically 2 tones, one high and one low - not really in the range of everyday life.
He is walking, running, trying to jump - and coming very close to an actual jump, he goes up and down stairs, he cannot open doors but he's almost there…he's even done summersaults on a few occasions. He's a normal, typical 2 year old. He's been in Physical Therapy for over 2 1/2 years, Speech Therapy for 2 years, and Occupational Therapy for about 7 months or so. He's doing so well in all of them, he may not qualify for Early Special Needs Education, which is wonderful news - but we want him to get all the help he can. His speech is our main concern at the moment. When he talks, it's still pretty mumbled - words blended into one another, or just plain baby gibberish. Mom and Dad, and people who deal with him on an overall frequent basis can understand him 75% of the time, otherwise you need an interpreter. He will be starting Headstart in the fall of 2005 if he gets in Early Education or not around his third birthday.
Overall he is doing so amazingly well!! He's healthy, he's happy, he's an INTELLIGENT little boy!! His big word of the last few months is Dinosaur! He also says his pleases and thank you, and he has a very very large vocabulary! He'll let you know if he is bored and wants to do something else! He loves his toys (Little People mostly) and his friend (Blues Clues, Elmo, Dora & Boots, Pooh Bear, Scooby Doo, and several others!) His newest obsession is Spider Man, or Peter Parker as he says! He loves reading with Mommy, and playing games on the computer! He likes to color and play outside on his big swing set! He loves to do it all! If his size is any sort of hindrance, he asks for help! He's determined to find a way to do what his 9 year old brother is doing! He is stubborn and temperamental - but if he wasn't, he wouldn't be doing so well - so we cannot fault him for it. Almost 3 years after his birth, and he is still as big of a miracle as he was the day he was born, and before!