Friday, June 12, 2009

My husband, Steve and I have been married for six years. We decided to try for a baby on our vacation to Las Vegas (see pics) in December of 2007. We planned to celebrate the new year with a new addition to our family. However, even with all the "tryin" it took us almost 6 months to get pregnant. I found out on July 6, 2008 that we were finally pregnant. I was so excited. I immediately started calling friends and family to share the good news. The first few months were typical (at least according to the baby books). I was gaining weight and feeling sick in the mornings. Life was so good. When I was about 8 weeks along I did develop a pain in my upper right side. My OB thought it was my gallbladder. The pain continued throughout the pregnancy and it was never actually diagnosed as anything other inflamed cartilage around all my ribs and the over stretching of tendons.
On Oct. 21, 2008 we went to our first ultrasound. My mom and Steve came along. We actually drove separate because mom and I were planning to go shopping after we found out the sex of the baby. I have never been happier in all my life. We arrived on time (I am never early) and headed back for the scan. Being my first pregnancy I had no idea what to expect. The technician was super quiet and took lots of measurements. She only asked one question, which was "have you felt the baby move much?" Of course, I went into panic mode and almost blacked out. I asked if there was a heartbeat and she said yes....but I knew something wasn't right. At the end of the scan, she turned on the lights and I asked if it was a boy or girl. She said it was a boy.
A BABY BOY! We had a name already....Roger Grant. Roger is my dad's name. His first grandson. I couldn't have been happier. The lady told us we would meet the doctor as soon as she read the results. After about 10 minutes we all went back and met with Angela, our OB. She walked in and I could see it in her eyes. She sat down and said the four words that changed my life....."we have some concerns." So immediately, I thought OK...what are we dealing with down syndrome or a heart condition. She informed us that Grant's long bones were not growing. He was approximately six weeks behind in his growth. OK....what is she saying?? He is gonna be a little person, like a dwarf. Not the life I wanted for my son but I could handle it. She described his disease as skeletal dysplasia. Mom and Steve started asking all kinds of questions about what could be done for this. Angela explained we needed to have more tests to determine how serious it was...What? How serious! She told us that in some cases this disease does not allow the rib cage to grow either. Meaning that his lungs would have no room to develop in the later months of pregnancy. She then said three other words that broke my heart---incompatible with life!
The next two days I was an emotional wreck! I pretty much hated the world and everybody in it. We went to see a fetal specialist at Good Samaritan in Cincinnati (love Shelley and Dr. Voss). Another ultrasound was performed and this time there was no "beating around the bush" on this one. The tech told me exactly how far his bones were behind. The specialist scanned Grant's chest cavity and told me that it was very small and the outcome did not look good.
There are over 200 various kinds of skeletal dysplasia. After researching the disease for four months, it seems as if short people actually have some form of it. There are also a few types that are lethal. The doctors told me that according to what they saw, Grant had one of the lethal kinds and I was then told if he made it to birth he would live approx. 2 hours at the most. He would die of respiratory failure and I would watch him suffocate. The doctors went over the options with me and of course termination was one of them. I was almost 22 weeks, so I needed to make a choice very quickly. Well, it wasn't even a choice...I was not giving up on my son. God blessed me with him and if he was to be taken it was going to be when God wanted to do so.
The next week I had an amnio to test for the mutated gene causing the dysplasia. The results took over two weeks and it was the longest 19 days of my life. I kept telling my friends that the tests came back without any mutations and the doctors were confused and had to test it again. I wasn't so lucky, on Nov. 23 I got the call at work. Grant had Thanatophoric Dysplasia Type 1 and it 100% fatal. It was Thanksgiving and what did I have to be thankful for?
If your reading this blog because your child has been given this diagnosis I want you to know that carrying my son and not giving up on him was the BEST DECISION I have ever made. I knew my son was going to die unless I got a miracle. Looking back I do not regret any choice I made. I was told that if he made it to birth, there would be no ventilators offered to allow Grant to continue to live. I would not even be hooked to a fetal monitor and I would give birth vaginally. The doctors told me they would not perform a surgery on me such as a C-section and put me at risk for a baby that was going to die. My doctors just didn't understand. They didn't realize that I had hope. I prayed everyday for two for Grant to come out perfect and the second..if he didn't come out perfect, I didn't want him to suffer. God answered my prayer. I went into labor at 32 weeks. It was Jan. 5 and I was at work when my water broke or shall I say flooded the classroom. I had excessive amniotic fluid building up and the doctors told me that I would go early. I starting bleeding badly on the way to the hospital and my blood pressure dropped very low. By the time I arrived at the hospital, they couldn't find Grant's heartbeat. My baby boy had died. However, he died next to my heart that was filled with love for him and he never suffered for one second. I was truly thankful for that.
The doctors made me wait for almost 7 hours before I delivered Grant, even though I was ready hours earlier. I am still to this day not sure what they were waiting on. He was breech and weighed 4 lbs. He was the most beautiful baby boy in the world. I sometimes imagine what his cry may have sounded like.
Thanatophoric dysplasia killed my son. A disease I had never even heard of but now am an expert on. This disease occurs in something like 1 in 60,000 births. I am not sure even to this day why God chose me and Grant, but someday I will see why because everything God does is perfect and He makes no mistakes.


  1. hi im daisy from philippines..i was deeply touched by the story of your son really reminds me of my first son who died also of thanatoporic dysplasia.. though i delivered him thru caesarian and wasn't able to see him after his birth bcoz i was still in recovery room that time.

    its been 3 years now since he left us but still his memories remains in our planning to get pregnant again but im afraid that it will happen again..i want to know from you if you had another baby after Grant.

    i'm so glad that you share your story to us..thank you.

  2. My son also passed from Thanatophoric Dysplasia. My heart goes out to you and your family. You are in my prayers...


    You can read Micheal's story and see many pictures of him here:

  3. My son is diagnosed with Thanatophoric displasia and I am currently 33 weeks pregnant. The story of your pregnancy is just like a mirrow of mine.. I am thanktful for every day while Chandler is still with me. But I know that day will come when I will have to say good-bye to my little boy. Thank you so much for sharing your story..

    God Bless you and your family


  4. My son was born on June 1, 2009. We received the diagnosis of thanatophoric dysplasia at our 18 week ultrasound and waited to meet him in love. He was born alive by c-section, and we breathed the same air for 2 precious minutes.

    I am so sorry for you loss. I think it's beautiful that that you said "he died next to my heart that was filled with love for him and he never suffered for one second. I was truly thankful for that."

    Although I saw my son alive, they whisked him off to the next room to "evaluate him" (something I begged them not to do) and he died away from me, which breaks my heart. My husband was with him, but as his mom, I feel like I should have been holding him when he left this earth...

    Losing a child that is so wanted and loved really changes things, doesn't it?

    Grant was a handsome little guy. Your loss was truly heaven's gain.

    Also, (kind of off topic) I had the same pain on my right side, but they never diagnosed it either... The pain got higher on my stomach as my belly got bigger...weird.

    Stop by my blog if you get a chance, and meet my sweet son Wyatt :) If you need anything, or just need to talk to someone who actually knows how you are feeling, I'm here!