The Beginning

I've decided to blog about the journey ahead of us with our baby Mark who was diagnosed with Thanatophoric Dysplasia (aka thanatophoric dwarfism) at our 19 week ultrasound (that was 5 weeks ago; I'm now 24 weeks). With this blog:

*I want to spread awareness and help others going through this in some way,
*I want to have documented my pregnancy and our life with Mark,
* and I want to honour his life with memories. We don't want to forget ANYTHING...

I will start off with the Wiki definition of Thanatophoric Dysplasia:

Thanatophoric Dysplasia (dwarfism) is a severe skeletal disorder characterized by extrememly short limbs, extra folds of skin, narrow chest, small ribs. Due to the small ribs and chest, the lungs cannot fully develop, therefore cannot sustain life once born. The term thanatophoric dysplasia is greek for death bearing. Babys with this condition are usually still born or die shortly after birth from respiratory failure. This condition affects about 1 in 60,000 births.

Our Story

John and I have been together now for 7 years next week! wow...how time flies :) I love him so strongly, somtimes it's hard to believe that I actually have found the other half of my soul...we are alike in so many ways, and have so much respect and love for each other. We are truly blessed to have found one another.

We have 5 children between us, Jayla 18 years, Alex 14 years, Bryan 3 years, Michael 20 months, and our 24 week bun-in-the-oven Mark. Our kids are our lives, we adore them all soooo much it's hard to put into words! again, we are truly blessed to have them.

Back in November '09 I was having some bad stomach pains, in the area of my left ovary. The pain was literally doubling me over. It lasted about one week. I let my doc know, and he told me if it continues again next month to come back. Well again in the middle of December it happened, but I just lived through it...with the holidays and such I was so busy and didn't really think anything of it. So again in the beginning of January it happened again, but way worse this time. So I went to the ER as my doc was on holidays. They did a pregnancy test and voila, I was pregnant! We were totally not expecting this! they did an ultrasound to see the babe and couldn't see anything (I was about 5 weeks at this time) and my HCG levels were SUPER low. They told me to expect a miscarriage and to come back in a few days for another US. What a double whammy...to be told you're pregnant and then to expect a miscarriage! So, I went back in a couple days and had another US and blood work. Again the HCG was low, although it WAS doubling as should be. And again they saw the sac but nothing in it. So again I was told to expect a miscarriage. They said to come back in a week for more blood work and another US. What a week! no miscarriage came... So, again I went back to the ER for more bloodwork. This time, the HCG levels were right where they should be, and during the US she saw a baby and a beating heart!!! I was 6.5 weeks at this time. We were told this time: That We Were Having A Baby!

Both John and I were happy to be expecting another babe...another little newbie to nestle in between us at night (we co-sleep with our babes), as our Michael had just been moved to his own bed recently. I had slight morning sickness, but nothing major...mostly food aversions. I had another US at 9 weeks, all went well. I had another US at 12 weeks, all went well. Then it was time for the 19 week US, Thursday April 15th. We were so excited to see our babe moving around! we also were so eager to find out the gender. During the exam the US tech. was pretty quiet, when usually they are quite chatty. I didn't think too much into it really, maybe she was having a bad day. Both John and I did notice that she took TONS of pictures, and the US took a bit longer than normal. But again we didn't think too much into it. And then she showed us: we were having a BOY! wow! 4 boys! We decided the next day to call him Mark, after Johnnys uncle.

On Monday I got a call from my GP saying to come into the office that afternoon to discuss the US report. We were nervous. When I got to the office, the Dr. told me that there was somthing wrong with the baby. That he had a form of dwarfism, and there was indication of a heart issue. He had never heard of the type of dwarfism they were suggesting, so he wrote it down and told me to look it up when I got home. These 2 words have changed our lives: Thanatophoric Dwarfism. I felt numb, like I was in a dream. This couldn't be happening to us...but then, little people are so sweet and perfectly healthy for the most part...we could handle it.

When we got home we looked up the definition of TD. When I read the Greek meaning (death bringing) I cried. I cried for the next 2 days until our OB appointment. Our OB set up an appointment with the high risk periontologist for the next week. She also gave me the US report with all the measurements. During that week I looked up as much as I could about the condition. I found out the ratios that determine whether a skeletal dysplasia is fatal or not. I found out what the normal bone lengths are. I searched for indications of surviving children with the condition. I searched for indications of misdiagnosis. What I found was so sad...there is not much hope at all for a baby with TD. They simply cannot breathe once they are born.

We held out hope that maybe the first US was wrong. We were hoping that he was just going to be short, or just a little person, but otherwise healthy. We just hoped so hard that they were wrong. The day of the appointment came. Tuesday April 27th. We were to go and have the level 2 US, at which time the radiologist would tell us his first impressions. Then we were to have a meeting with the head Periontologist, Geneticist, OB, and a few others to discuss the results. During the US I asked the tech. all kinds of questions. I asked the chest circumfrance, the abdominal circumfrance. I did the math in my head for the ratios and was not happy. The chest circ. : ab. circ. should be 80% - 100% in order to not be fatal: Mark's worked out to be 77%. The head radiologist came in after looking at the pictures and started showing John and I what he saw. He saw long bones that were now 7 weeks behind, with bowed femurs. He saw short ribs that don't go all the way around as they should. He saw narrow ribs. Normally there should be gradual and subtle sloping from the chest to the abdomin. With Mark, there was the chest, then a steep incline upwards, like a step. This meant that the chest is so small that the heart will fill most of it up, so that when it's time for the lungs to develop there will simply be no room. He then told us that of his 18 years in US, this was one of the more predominant cases of TD he has seen. We knew that that meant. We sobbed. The type of sobs that overcome your body, and you make funny gasping noises. We were heartbroken.

Our appointment with the panel was not for a couple hours, so we wandered around the hospital in a daze for the most part, crying now and then, and just holding hands and leaning on eachother. When it was our turn, they basically told us that it was definitly TD, they were 98% sure, and that he would die either in utero or shortly after birth. They gave us 3 options: to have an abortion - which was out of the question right away, an early induction, or to go as far as possible with the pregnancy. This was so tough at first. I was so afraid that if I carried him any longer I would be an emotional mess for the rest of the pregnancy, that we would be just prolonging the pain etc. We sat down with a priest, we discussed our options, and the more we thought about it, the more it made sense to carry him.

~Yes, there would be hard hard moments of pain.
~Yes, the outcome might be the same as in his passing away.
~And yes, there might be some pregnancy issues to deal with.

BUT,

~we would have Mark for longer, living healthy inside, kicking away, LIVING.
~We would get to hold our baby and hopfully he will be born alive so we will get to look into his beautiful eyes and just be with him.
~we will KNOW we did everything we could to give him every chance he has.
~plus, there is 2% chance that they are wrong :)

I have never been a totally religous person, but I am spiritual...this experience has made me believe that if it is God's will, he will heal our Mark. If not, it is for a reason that he has come into our lives.

Since making this decision, I have a total feeling of peace. I do have my moments though, don't get me wrong. When I read other people's experiences, I sob, but it also helps me inside.

Our Deepest Wishes:

~that God will perform a miracle on our son, and heal him.

~if healing him is not in God's will, please let him be born alive so we will get to hold him. I feel him alive everyday, and I want to hold him breathing, and remember his sweet face that way.