Joseph's Story

Diagnosis: Thanatophoric Dysplasia

By Becky

We went for our regular 20 week ultrasound; we had been having no problems with the pregnancy, except I did notice that I wasn't feeling a ton of movement; a few random bumps here and there but no strong kicks or anything. After the ultrasound the Dr. said it looked like the baby's arms and legs were not developing at the same rate as the rest of the body and the skull appeared to be misshapen. Our Dr. said she suspected the baby might have some form of dwarfism and possibly brain damage, which really freaked us out but it was all just speculation so we tried to stay positive and assume that everything would be fine.

She referred us to a perinatologist for a Level II ultrasound and a genetic consultation. We went there a week later (that was a very long week let me tell you) and we had kind of prepared ourselves for what we thought was the worst: severe disabilities, brain damage, etc., but we knew that no matter what they said we would deal with it because this was our child and we loved him/her no matter what.

Well then we got there and the Dr. that did the ultrasound and said that it was a fatal form of dwarfism called Thanatophoric Dysplasia. Fatal because the chest cavity was so small that the lungs and heart could never develop fully. The baby could survive as long as he was inside of me because his lungs wouldn't have to inflate, but once he was born he would never be able to breathe. Basically, I was like his life support system. So as if that weren't bad enough, we were told that our options were to either induce labor early or wait for him to be born naturally and pass away on his own.

I couldn't believe we were supposed to make that decision. I mean what is worse, waiting 18 weeks for our child to be born naturally when we knew no matter what he would die, or ending the pregnancy early and basically choosing when our child died? I still can't wrap my mind around it; no parent should ever have to make a decision like that. But we had to, so we talked a lot about the diagnosis and the options, talked to our OB, cried, prayed and all that stuff and eventually decided to go ahead with an induction.

The clincher for us was that my Dr. felt it would be more dangerous to continue with the pregnancy because this condition causes the skull to be misshapen which would mean that a vaginal birth probably wouldn't be possible once the baby was full term. I can't say I was at all comfortable with the situation but after weighing the options this seemed to be the "best" choice for us. I say "best" because none of the options were appealing.

I was and am heartbroken about it. I have always believed that I would never terminate a pregnancy no matter what. Even if my life were in danger I would prefer to give my child a chance at life. However, in this case that wasn't an option. No matter what we did we were not going to come out of this with a live, healthy child. But we did need a live, healthy mother for our other child.

I don't think I would have been able to be at peace waiting for him to come on his own though. I mean you know how it is when women are pregnant; everybody gets excited and ask if it's a boy or a girl and when you're due and tries to give you advice. How could I deal with that for 18 weeks all the while knowing that my baby had zero chance of survival once it left my body? It would have been an emotional nightmare.

So we went in for our induction on the September 6th and he was born a little after midnight on September 7th. My husband got to cut the umbilical cord. Joseph was born alive; he lived for about 10 or 15 minutes (it's hard to say because his heartbeat was really faint towards the end). But he looked so peaceful, he never cried. He looked like he was sleeping. It was such a relief because I was so afraid that he would be in pain or that he would suffer and I know he didn't. He squeezed the tip of my finger with his tiny little hand. His hand was literally the size of my thumbnail, it was SO tiny. But his hands and feet were perfect.

Seeing him it was obvious how misshapen his skeleton was and I know without a doubt he would have suffered a lot had we waited for him to be born naturally. His chest was just so small compared to the rest of his body; I can't imagine his lungs and heart could have fit comfortably in there even at this early stage. If he would have grown bigger our doctor said his heart would have been crushed, I'm so glad he didn't have to go through that.

We spent about 7 hours with him altogether. Just holding him and kissing him and telling him how much we loved him and how sorry we were that our time together was so short. We even took a nap together; my husband and I with Joseph snuggled in between us. Those few hours were so emotionally trying but it really helped us to have that time with him. Maybe it is weird but I honestly think we both felt better about the whole situation after he was born and we saw him. I think maybe we were in denial that something was wrong with him and we both wanted to believe that he was going to be fine. But once we saw him we knew that wasn't true. We took pictures but we aren't planning to share them with anyone, at least not yet, maybe not ever. We decided to have him cremated and we had a special urn made with his name and his birth date.

That first week after he was born was ROUGH, not just mentally but physically too. My milk came in and my whole body was responding to the birth the same way it would have if I would have brought home a healthy baby. My milk came in a few days after he was born so my chest was like two blocks of cement and it seriously felt like my boobs were going to explode. And that just served as a really nasty reminder of the fact that I just had a baby but I have no baby to give my milk too. It was horrible.

Of course after a few weeks physically I was feeling much better, but mentally, well that was another story. I had good days and bad days when I was at work or busy I was ok. But when my husband went to work and my daughter was sleeping and I was alone with my thoughts, that was rough. You know what it is like to carry a child and the attachment you feel from the minute you find out you are pregnant. And you know all the anticipation and planning and dreams that come along with expecting a baby. You know what it is like to feel the kicks, the discomfort, the aches and pains of pregnancy; all the stuff you go through to get to the good part when the baby comes. But I had to go through all of that only to leave the hospital empty handed it is so unfair.

People say time heals and I believe that is true. We lost our Joseph over 2 years ago and I can write this story now without shedding a tear, although my heart is heavy. But time goes on and the pain softens. We have had another child since and we have moved on with our lives but we will never forget Joseph, he cannot be replaced.


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