Is it going to be alright?

But I look at you, warm in your dream 
While your mobile dances above 
And I think to myself 
It's a beautiful night 
And I know everything 
Is gonna be alright 
Yes now I know 
It'll be alright

One out of a million...literally.

As most of you know last week at our 20 weeks ultrasound we were told that our baby has some birth defects with his hands and feet. We saw a specialist the next day and he also found a heart defect. He suspected Trisomy 18 (fatal) so I got an amnio. My FISH results came back negative for Trisomy 13, 18, and 21 (downs). We have been so excited and living our lives "normally". We knew the rest of the amnio results were EXTREMELY rare disorders and the odds were in our favor. 

Yesterday while at work the Women's and children's hospital in my city called with the results of my full amnio, there's a problem. A very rare problem, SO rare there are MAYBE 50 people in the WORLD with this disease/disorder. My son has a partial trisomy 9p (and 3/4's q). I don't expect anyone to know what that means but here's some explaining. Instead of having an entire extra third 9 chromosome, he has a full part of the 9p (p is the stop of the chromosome) and has half of the 9q portion (q is the bottom of the chromosome). Most studies are either on children having partial 9p or partial 9q. 

My hospital is famous around the world for working with the most sick children and being at the forefront of research and studies. Yet there were were in the waiting room waiting for our meeting with the genetics counselor and here I see the counselors at the printer copying pages out of a research book trying to learn about it before our meeting. 

Because no one has really ever dealt with this disorder the outcome is truly unknown. A child with only a partial trisomy of the top of the 9 chromosone looks to have pretty good chances of life (with moderate to severe mental retardation). However, a child with the same 9p and a little bit of the 9q (bottom half) is a worse diagnosis. This small 9q part that he has looks to be causing his heart defect as well which may be life threatening. Our son has a good chance of living (I think) however his quality of life is going to be poor (possibly). 

We go in today to meet with the fetal cardiologist for a fetal echo cardiogram to get answers on his heart defect and if it is fixable. We also need to tour the NICU and meet with the Orthopedist at some point. My baby now has a cardiologist and a genetics pediatrician. 

They told me yesterday that I have a "choice" to terminate the pregnancy. I don't really feel like I have a choice. This has nothing to do with pro life or pro choice or anything like that. I can't imagine ending my baby's life and living with that for the rest of my life. I just can't do it. If my son is going to pass away it needs to be on his own terms and until then I need to make his life as comfortable as possible. My son has a name, he moves, he is a human being and there is a chance he will live a very long life and that is not something I am going to mess with. 

I found a story about a boy who was born with the EXACT same chromosome disorder that my son will have. However, since each chromosome holds so many different genes for every person then their outcomes could be different, but this gives us hope. He is now almost a teenager and has lived a fairly "normal" life. He wasn't born with a heart defect but I'm keeping hope that is something that can be fixed. He also had the same feet condition that my son has, it's basically the opposite of clubbed feet and I've been trying to explain this to people and was getting so frustrated that people didn't know what I was talking about and just kept telling me how fixable clubbed feet are, even though they aren't clubbed feet! This website of this boy explained that they are just opposite clubbed feet, not not clubbed, but it made me feel better that someone understood me. Even if this family is in England. 

There is a support group for children that have some form of this disorder in England, they only have 19 members and again it is not exactly for what my son has. I cannot believe that out of all of the odds in the world this is happening to US. They don't really know the odds but something like 1 out of 50,000 (at least). 

We were told this may be in our genes but somehow we came out okay so we got our blood drawn to get a picture of our chromosomes. If either of us is positive for it then we need to get my 1 year old screened (in case his is not manifesting in something physical we can see but maybe mental or cognitive) and then we will know that future pregnancies could risk having this disorder. 

I am so numb. At times I feel happy that he has a pretty good life expectancy for all of the problems he will have (we won't know for sure until we have the echo today though) but then a portion of me feels guilty if I have him and he is bedridden or cant talk or can't see or something else. It's too much to think of. I'm a wreck but I'm trying to stay positive, it's hard. 

Here is a link to wikipedia that has a page on the closest thing to my son's condition. This website talks mostly about a full trisomy (an entire extra number 9 chromosome) but our son does not have that so the fatality of the disorder is not the same. There is also a picture on the website that I have copied below. If you see there are bands that are numbered. The picture is of the 9 chromosome that we all have 2 of, normal. My son has an extra one of those from the top of the picture to the number 9q21 band (shown on the picture). Everything below the 21q is not there. 

http://en.wikipedia.org/wiki/Trisomy_9

Thank to all of you who have kept us in your prayers and thoughts. 

<3 Erin

21 weeks

"Baby gulps down several ounces of amniotic fluid every day, both for hydration and nutrition and to practice swallowing and digesting. And, these days, those taste buds actually work! Studies show that after birth, babies are most interested in tastes they've already experienced through amniotic fluid. Meaning, think about what you want your future child to eat as you prepare your own lunch."

How far along? 21 weeks (and 1 day)
Baby’s Size: A banana. This is the first week that baby is measured from head to foot, not head to rump. He/she is now 10.5" long and over half a pound!-- Actually at my perinatologist office the baby looked to be 13oz at that point, and that was a week ago. Already gonna be a chunker!
Total Weight Gain: I think at most a few pounds, it's weird!
Maternity Clothes: ugh...I pretty much HAVE to wear them now but normally about two days a week I will still try to get away with my normal work pants but it's really starting to hurt the tummy.
Gender: BOY! My son is not shy and will show any technician, doctor, or specialist his goods.
Movement: the baby hasn't been moving like crazy like Nolan did but as long as he is moving I'm okay with that for now. He really hates when I'm sitting down and bend some at my waste (like to get closer to the computer screen or closer to someone I'm talking to) and he will kick me continually until I move from that position.
Sleep: on the decline. I toss and turn throughout the night because my stomach can just not get comfortable and of course when I wake up on my back I freak out and have to quickly turn over. I now have to sleep with a pillow between my legs, under my belly, and in between my hands.
Symptoms: Not much, I get hungry like crazy but not much else...my back has been hurting some but that's fine.
Best Moments this week: Getting the definite negative results of any trisomy and learning that the baby's odds of trisomy 18 is 1:100,000 (yay!!). my spina bifida test was also negative. Now I just have to wait for the rest of the amnio results!
Food Aversions: chicken nuggets
Food Cravings: popsicles, duh.
What I miss: what i miss? I never get this question. What do i miss about not being pregnant or what do I miss about life...what's going on with this question? i miss uninterupted sleep. not to mention the sleep loss from the baby but Nolan is starting to wake up in the middle of the night, he apparently does everything backwards.
What I am Looking forward to: going back to see the specialist in two weeks and my OB (who called me Monday and called me hunny and told me I was in his prayers and he thinks about me often)...anyways I'm excited for some more answers with another sono, even though that holds the possibility of more bad news.
Milestones: Finally past the worry over Trisomy 13 and Trisomy 18, goodbye!

Waiting? Yep!

That's right...we are still waiting for our results. I'm sure they don't work weekends so I'm getting frantic since I haven't heard from anyone. I've called the Genetic Counseling department (is that even what it's called) twice now and left a message, no call back. Do they have any idea how serious their jobs are? I'm sure they do but still...it feels like I'm just left in the balance. Yes, I'll give them the benefit of the doubt, MAYBE the results aren't finished yet however my genetic counselor COULD call me and say just that, "I'm sorry but the results are not in yet, I'm sorry and I know how difficult this is"...or something to that affect. They could call me no matter what just so I'm not sitting here feeling forgotten. Really? How can I wait throughout the weekend. 24 hours seemed like an eternity for this kind of news. I'm getting to the point where a Xanax is going to be necessary...it's like a constant panic attack. I think their office closes in 32 minutes. Tick tock tick tock...

And waiting...

I don't know what else to do. I go from the computer to the bed and then back to the computer again. I'm tired of waiting. I want to call the hospital and yell at the genetic counselor who is supposed to call with the results, "WHERE ARE MY RESULTS". I would hope that with news like this she would call as soon as the results were in her hands, but I don't have much faith in people lately.

When I make my way to the computer I'm surrounded by some great women on my "birth board" who seem to be going through this with me and I update them regularly. It feels nice to not feel alone right now. I think Dennis wants to be left alone more than I do so I let him sleep and watch re-runs of House Hunters and Designed to Sell because I think that makes him feel a little better. This is a very awkward place to be. Is there a handbook of what to do in this situation? I have laundry and dishes to do but it just doesn't seem right to do anything but sleep or blog.

I remember yesterday when we got home from the hospital, Dennis took the dogs out and I stood against the kitchen counter (eating kit-kats). When Dennis came back inside I asked him in a very honest way, "What do you do when you find out your baby may die?" There's no directions on what to do and I very seriously didn't know what I was supposed to do in that moment. The only thing we can think of is sleep or lay in bed. I need to start a caringbridge.com website for little nemo but I don't want to yet because I don't know what we are looking at.

It's 12:43 pm and still nothing.

Waiting

This is the worst waiting ever. My phone rang twice today and I almost had a panic attack each time. The second time I got so pissed that the dumbass people on the other line were even calling me repeatedly I threw my phone into the car cup holder and had a hissy fit. I keep checking my phone to make sure it's working and my heart rate is through the roof. Anything I think about the phone call I start feeling a panic attack, this isn't good. Dennis is still in bed. I can't lay down anymore or I just stare into space and get really upset. It helps to write or talk to people.

It's so hard to get happy about anything right now. Nolan has his school party today (we took donuts, his first time eating one too...lets hope it goes well!) and although I can go I probably won't. It's hard to even smile, even if it's fake. People at his school ask me how I am and all I can say is "fine" with a fake tone. I can't lie to people. I'm not fine. But just about the only thing that makes me happy right now is picking my son up from school and seeing him playing with his friends and learning new things and hearing about what he did that day. So I will continue to pick him up even if I have to fake my happiness.

Indescribable

There's a continuation of bombs that won't stop exploding. Just when I think I am grasping the fate of this little one and can do something about it another one goes off that is worse than the last bomb. I can't describe how this feels, almost like a sick joke. I don't want to eat. I don't want to sleep. I don't want to do anything but just stare into space. I don't feel alive anymore, something terrible has been taken away from me. I can't write about it and I hate to think about it. If I could have hid my phone today I would have. I didn't want to talk to anyone and I couldn't even cry. The news is so unbelievable I can't even cry. After meeting with the perinatologist at the hospital I sat outside on a bench waiting for Dennis to pull the car up (I had an amniocentesis and needed to rest as much as I could) and it felt like the world was going on without me in it. I saw mommies around me with babies in strollers and pregnant women smiling to have just found out what they were having, I saw valet workers laughing about their friends and cars whizzing by...I wasn't there in that moment. I was somewhere else...I had been paused and the world continued. What a weird feeling. Tomorrow will be another struggle and maybe soon I will be able to write about the horrible things that are happening right now. For now it almost feels like therapy to just write how I feel, I need to journal because I will always want this to look back on.