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March 25, 2016

Aiden's Diagnosis: Skeletal Dysplasia, Achondroplasia, and Achondrogenesis

I'm in no way qualified to be discussing medical terminology. But as I started this journey with Aiden, I searched the internet daily to see if anyone went through something similar to us. I was desperate to find even a glimmer of hope, and I couldn't find much. My greatest wish is that a mom (or dad) that is struggling through a similar situation can find some comfort here.

When we went into our 20 week check up, David and I were thrilled to find out we were having a boy. But when my ob walked into the room with his laptop and asked us to sit down, I fell real fast from cloud 9 and had a sinking feeling something was wrong.

He went through each ultrasound image with us and explained what he was seeing. His body seemed to be measuring where it needed to be, but his arms and legs were measuring 4 weeks behind. He gave us a possible diagnosis of Skeletal Dysplasia, and referred us over to Maternal Fetal Medicine. He said they have more powerful ultrasounds there, and perhaps their measurements were off and all was fine. I'll admit I hoped and prayed his measurements were off and we could move on with a normal-sized baby.

Skeletal Dysplasia is an umbrella term for what is more commonly known as "dwarfism". And there are 100's of diagnoses that fall under that, depending on the measurements and ratios of the skeletal structure.

It's caused by a gene mutation that affects the baby's ability to turn cartalige into bone while in utero. Sometimes a parent can carry the mutated gene and happen to pass it on, but it can also happen randomly.

(Side note - David and I plan on getting testing done to see if one of us carrys the mutated gene. Interestingly one of the physical signs of dwarfism is having a single top crease on your palm that stretches from one side to the other. One of my hands has one of those lines, so the geneticists wonder if I'm carrying the mutated gene. See pictures of my hands below to see the line I'm describing.)

At our first appointment with Maternal Fetal Medicine they confirmed all of his long bones (each bone in his arms and legs) were indeed measuring short. They were all about 4 weeks behind the rest of his body. His stomach and head size were measuring correctly for his gestational age. And although the sizes were off, his bones were formed correctly and didn't appear to be brittle or too soft. This led them to think he could have a diagnosis of Achondroplasia Dwarfism under the umbrella of Skeletal Dysplasia.

Achondroplasia is, as our doctors told us, the most common type of dwarfism. (Think Peter Dinklage) A part of me is ashamed to admit this, but for awhile I grieved at the thought of having a child with dwarfism. I knew I would love him just the same, but I didn't want him to experience any difficulties in his life. It's not something I ever expected and I definitely had to take some time to warm up to the fact.

As our appointments went on, the size of his chest fell behind as well. They grew very concerned that his lungs wouldn't have room to expand and work when he was born. He also started to develop what's called Hydrops. Hydrops is when fluid begins to collect and pool around his organs and under his skin. It's extremely dangerous to babies and the doctor graciously announced that hydrops has a high likelihood of killing a baby in utero.

These new developments led them to a possible diagnosis of Achondrogenesis type 1a. This basically means a type of dwarfism that isn't able to sustain life and is considered "lethal". Although they couldn't give us a precise diagnosis for either Achondroplasia or Achondrogenesis, they recommended I terminate the pregnancy. They also predicted that if Aiden even survived life in utero, the longest he would live was about 3 hours since his chest size continued to fall behind. Every appointment they recommended we terminate the pregnancy. Every appointment they reminded us that they doubted his lungs could support life. And every appointment another piece of me felt as if it died.

I went on to bed rest when I was 28 weeks pregnant. I was at a high risk for preterm labor due to Lydia (my second child) being 5 weeks early herself. And I developed Polyhydramnios (high amniotic fluid count) due to his inability to keep up with swallowing and regulating the amniotic fluid. This is also very common with a child that's diagnosed with Skeletal Dysplasia. Their bodies can't keep up with the normal amount of amniotic fluid the mom produces. I knew that bed rest would keep him in there as long as possible so he had a chance to keep developing his lungs.

And I got HUGE. No really, I looked like I was going to have twins. When they broke my water during the c-section they caught a gallon of fluid. And that's only what they caught! It splashed onto the floor and soaked my hospital gown and the bottom of the doctor's scrubs.

At each appointment his long bones and chest fell more behind in growth. And with each appointment the more I believed he wasn't going to make it. But I still refused the offers to terminate the pregnancy and told the doctors that not only do I not believe in that, but I was going to give him a chance to try.

We had a meeting with a neonatologist before his birth and outlined when we wanted them to intervene with oxygen, intubation, and resuscitation if needs be. And we outlined at what point we wanted them to stop and let him pass away peacefully with us. That was the hardest conversation I've ever had and hope I never have to do that again. But I'm thankful we did it beforehand so that when he was born there was no confusion. Everyone knew what they needed to do to try and get him breathing quickly according to our wishes. And of course, the reason David followed him to the NICU was so that he could tell them to keep resuscitating him if he felt it was right, or to tell them to let Aiden go if that's what he needed.

We gave him a chance, and trying is exactly what he's doing! He's now been alive for 1.5 weeks and is fighting like a champ. We just have to hope and pray his lungs can grow quickly so he can support his own life eventually. But he has already been going down on his respirator, and has been trying to take his own breaths in between the respirator breaths more and more. His lungs seem to be opening up, and his body has been flushing out the fluid from the hydrops really well.

We still have a long road. We still need to complete his genetic testing to get a clear picture of what his quality of life and needs will be. But quite frankly, we don't care what his "quality of life" will be. We will take care of him and love him all the same - if not more for it! So far he's beating the odds and showing all those doctors that recommended terminating him what's what. We look forward to sending a real nice letter with lots of pictures to all those doctors one day.


My left hand - one line at the top of my palm that stretches across my entire palm. This is a physical sign of dwarfism. Perhaps this could explain my petite frame? I'm very curious now!
My right hand - has the more common upwards-slanted line at the top of my palm that only stretches to about midpoint. This is considered "normal" and most people have lines in their palm like this.

5 comments:

  1. Corissa, you are a great writer and a beautiful person. Maybe you will compile all these thoughts into a book to help other parents that are going through the same situation. Wouldn't be that a blessing to others that would be as lost and worried as you were? We are considered to be a mature person when we can turn our grief into something good and bigger than us. I am really amazed at how well you both have been handling the stress and difficulties. Aiden will bless you with experiences you never thought you would have, but you are blessing him already with a great example of respecting life in all forms and shapes. Thank you!

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  2. Girl, you are the best. This blog will be a blessing to you and to others. Like I said to you before in FB, I remember searching the web for others going through the same situation than me when Samuel was born and during my divorce. I tried to find answers and comfort sometimes in the blogs I found. They were healing for me. I hope you know you are a very especial woman and mother. We love you very much, hang in there...you guys are amazing!

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  3. Never be ashamed for grieving what could have been. When helping parents finding out their baby has amniotic band syndrome, they also go through a grieving process and feel shame. In a way, parents always have it the hardest when dealing with a difference or something that doesn't make us normal (I know your circumstances are a lot different than mine were and some of the people I'm describing). Always look at the positive and how your baby amazes you. He's fighting to live and that's more than anyone said he could do. I played the string instruments and piano, and that was more than anyone said I'd be able to do. Lots of prayers for you and your family. I hope all goes according to God's plan and that He gives us strength to endure His plan.

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    Replies
    1. you are amazing amanda!

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    2. Amanda, you are an inspiration to us! You are the epitome of what we want to teach our children and especially Aiden - that no matter what, they can accomplish anything they set their mind to. Thank you for being who you are!

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