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!
Update April 2016
It’s been a long time since Noah’s story was updated. Not even sure where to begin. I guess with the announcement that Noah is a whopping 14 years old now! Every birthday I can’t help but to remember how I was told over and over that Noah wouldn’t come home, would be lucky to be born alive, and when I countered that, I was basically told that it was hopeless. However, here he is… fourteen years old.
The years since he was three haven’t always been easy. There have been a lot of ups and downs. Mostly just us counting our lucky stars that he’s as healthy as he is.
In 2007, I was pregnant with baby number three. (Live birth wise anyway. I have had a total of sixteen miscarriages.) There were clear medical issues with this baby – a lot of issues that paralleled my pregnancy with Noah, and a lot that didn’t. I have to say, I felt a bit like damaged goods. The only common denominator with Noah and Nathan was me, because I had divorced Noah’s biological Dad and married Nathan’s Dad.
But that isn’t even why I mention Noah’s little brother; I mention it because the same week Nathan was born was the week Noah almost died. The short version is this: Noah got an ear infection mid-week, and was put on antibiotics. By that weekend, Noah was complaining about his right side hurting; he was running a 103-104 fever; he was throwing up. It got to the point where we were worried. We took him into the ER on the Sunday, and we were basically told by the PA who saw him that it was just a virus and when we questioned if it could be appendicitis, we were told no, he was too young. Monday he seemed to be getting better and that made me happy, because we knew that we were having the new baby that week. We had to go 2 hours away to the clinic/hospital that Noah had been born at, and Nathan would be born at, the following day (Tuesday) to find out when we’d be having the baby that week. Tuesday morning, Noah was a lot worse. He was extremely lethargic, feverish, vomiting, he couldn’t move, he couldn’t seem to stay alert enough to communicate, things were bad. So I dosed him up with ibuprofen and tylenol and we went to my ultrasound and appointment then took him to the Peds department, by that time his fever was back and everything else. The doctor came in took one look at him and basically knew he was in bad shape; I was just in tears telling her everything that had been going on. We were having a baby on Thursday and here I was extremely worried about my five year old son. He was admitted, tons of tests were done, his kidneys were starting to fail and the doctor told me if we hadn’t gotten him in that day, he would have been dead in a day or two, or at least so sick that he might have been too far gone. The horrible part of it, was, I had him in the ER less than 48 hours prior to that. Turned out that Noah had C-Diff bacterial infection, which can be very serious. Luckily we did catch it in time. Noah was put on some serious antibiotics. But there is no feeling in the world than having to leave your 5 year old son, who’s sick, in his hospital room – to go down one floor in the same hospital, and giving birth to another son with medical issues whom is going to be put in the NICU. I was a basket case.
Because of that though – Noah’s kidneys have been chronically sick, though not sick enough for any big interventions. We’ve just been keeping an eye on things. Only lately have there been signs that his kidneys are getting a bit sicker. He has a lot of blood in his urine, his protein is elevated, his blood pressure is higher, along with other things. When Noah was born, I remember being told one of his kidneys was smaller than the other, and I often wonder if his kidney or kidneys are infected by the MT16.
Also recently, Noah was diagnosed with pretty severe anxiety issues, ADD, and he also has Aspergers, which is something I’ve often thought about – him being on the spectrum. There were times I really thought he had it and times I thought he didn’t, but it is a confirmed diagnosis now.
Noah also has some moderate hearing loss in his left ear. He wears a hearing aid. However, thanks to the sensory processing disorder, he doesn’t like to wear it because it makes the world “too loud” for him.
His teeth have been an issue also. Noah currently has braces, and he has had them for two years now, probably have them for another year or so. He had shark teeth (where his adult teeth grew in behind and sideways his baby teeth.) He only lost 3 baby teeth total. At the age of 11 he ended up getting 17 baby teeth pulled (all at one time) so that his adult teeth could come in, and he had a total of 12 teeth left in his mouth. A couple of his adult teeth were growing horizontally in his gums, and not vertically in his mouth like every other tooth. We were desperately trying to get his teeth taken care of before serious problems started with pain and everything else. Luckily, those teeth have finally come down and are finally being bracketed to fall into place with the rest of his teeth! His dentist and orthodontist both say that he has a very small jaw.
Another issue that Noah has dealt with always was his muscles being very tight. Walking has always been an issue for Noah. And these issues are not only with his legs but his arms and hands too. He still has a problem grasping with his hands. He has a hard time walking for any sort of long distance, and any sort of exertion wears him out very quickly. We’ve taken him to several doctors trying to figure out why this is, but no one could really give us any answers. When I brought it up to his genetics doc recently, he told me it was probably a brain issue not communicating with his muscles the way it should. So he started to see the same neurologist that his little brother sees, and he put him on a medication that has really helped with his leg pain issues, and he isn’t complaining about his legs hurting all the time.
Noah really doesn’t have a lot of long term medical issues. He has a lot of things that are there, that we know about. He can’t really attend public school because he is literally out of school sick more than he is in school because his immune system has been horrible, and he catches EVERYTHING. So he homeschools. He does have a lot of issues learning. Not only does he have severe anxiety (which I mentioned earlier) he also has ADD, he has Dyslexia and Dysgraphia. He has a very hard time retaining information. It took a long time for him to learn to read, and he now loves to read. Math was a HORRIBLE subject for him, and although sometimes it is still really tough for him, we’ve come up with a process that is comfortable for him and now says Math is a subject he enjoys. But because he has such a hard time retaining information, he should be middle school grade level but he is only now finishing up 2nd grade level work. We are considering putting him back into school to see if maybe they can help him more than I can, but the school district didn’t do very good for my oldest son (who also has anxiety and dysgraphia) by not following his IEP. They were not doing Nathan any good – but we moved, putting his school as a different one (same school district) and Nathan said he wanted to try school again – so we did – and the new school has been AMAZING with Nathan, listening to our concerns and not dismissing everything we say. So I’m not sure if Noah would be better off staying homeschooled or if he’d do okay with some sort of school option. It’s something we struggle with.
There was one more thing I wanted to mention – Noah had severe IUGR during my pregnancy. The placenta had been small and poorly functioning (turned out the placenta was 100% Trisomy 16) and he was born at 33 weeks weighing only 1lb 12oz and he was 13 ¾ inches long. At 14, he is now about 108 lbs and exactly 5 foot in height. I started seeing signs of puberty in Noah when he was 7 years old. I would bring it up but it would basically get shrugged off. By the time he was 11 he was starting to grow a mustache. It was about this time that he suddenly started to grow. He started to gain weight, get taller, it was this very sudden thing. He has stretch marks from it. However, just recently I noticed he had horizontal stretch marks on his back. I have never seen horizontal stretch marks on anyone – let alone in the middle of the back. We also realized about a year ago that it looked as if he might be forming gynecomastia (male breast tissue). I was hoping I was wrong, but it’s rather obvious now. So we recently took him into the doctor for both the rapid growth and the gynecomastia issues and are being referred to an endocrinologist (same one Nathan sees.) When we saw his doctor though, he mentioned to us that it was pretty clear that Noah was at the end or towards the end of puberty for him. This makes me pretty sad since he’s only 5 foot. We have to wait to see what the Endocrinologist says though. Just sad that I have brought all this stuff up several times through the years and it was basically shrugged off but now when it’s clear what’s going on – now everyone is scrambling.
Right now some of Noah’s favorite things are Doctor Who, Batman, Minecraft, Legos, reading, World of Warcraft (game, he plays with the family), he plays SIMS, and a lot of other things. His best friend is his brother Nathan, they have a lot in common, Autism, medical issues, and Noah is mentally about Nathan’s age (he’ll be turning 9 in a few days). Noah is a pretty amazing kid! He is interested in learning how to cook, and he is really interested in Dinosaurs and Astronomy.