Monday, August 25, 2008

Our Story

As is the case with many POLP (parents of little people), finding out that our baby would be different was a very dramatic and emotional event. We became pregnant by surprise in late October 2004, about nine months after we were married. Surprised, but thrilled nontheless, we made a plan for how we would tell our families. My parents were hosting Thanksgiving for Devon and I, my two sisters, and Devon's parents. Devon decided he would make a toast at the beginning of the meal, and subtlely suggest our surprise at the end. As we were all gathered around the table, Devon raised his glass to say how thankful he was for our two families coming together to celebrate this holiday, and then quickly snuck in"...and next year there'll be one more..." To say that our families were excited was an understatement! In fact, most of the lavish Thanksgiving dinner lovingly slaved over by my mom went untouched...they were too excited to eat! Happiness abounded that day, as we knew it would.

My pregnancy was extremely uneventful. I felt fantastic, craved sour apple candy and McDonald's orange juice, and we excitedly prepared for our little one's arrival. We decided not to find out the sex of the baby...I really wanted Devon to be able to make the big announcement after the birth. My mother and I shopped for baby goods until we dropped. The fall and winter passed, spring arrived, and we enrolled in childbirth class. I was seeing a midwife, and was was eager to experience a natural childbirth (and by "natural," I meant that if I was screaming for an epidural, they'd better give me an epidural.) As a nurse in a women's hospital, I had witnessed a number of births, and had always dreamed about the day I would deliver my first child.

When I reached 32 weeks, I went for a checkup and had an ultrasound. My midwife's practice always did a routine ultrasound later in the pregnancy to check the baby's size and position. Devon was with me, and we were looking forward to anther glimpse at our baby (who we had nicknamed "Harpo" - a long running joke having to do with the Finding Nemo movie. EVERYONE called the baby Harpo. It was even on my baby shower cake.) The ultrasound went smoothly, as far as we could tell, and it wasn't until we were back in my midwife's examining room where we heard some unexpected news.

"The baby's bones are measuring short," she says. "But I don't think it's anything to worry about. You aren't very tall, so the baby might just be taking after you."

I didn't feel nervous. After all, I am short. My whole family is filled with short people. No big deal. In any case, my midwife was sending us for a Level II ultrasound the following week with a maternal-fetal medicine specialist.

The day we went for our Level II was the Friday before Memorial Day weekend. The weather was beautiful. My mom came along with Devon and I to the appointment, all of us looking forward to seeing Harpo again. The waiting room was absolutely jam-packed. I checked in, and we waited...and waited...and waited. The room slowly emptied out. Finally after three hours, we were the last people left in the waiting room. By now I was just mad, and truly didn't care to see the specialist at all. But we went in, I hopped on the table, and the ultrasound tech went to work. The doctor came in after a while, took a look, and mentioned something about seeing enlarged kidneys. She left again.

The tech told us enlarged kidneys (bilateral hydronephrosis) was not particularly uncommon. She was also quite perturbed that we did not want to know the baby's sex. She said, "Well, I will tell you, the hydronephrosis is much more common in boys." Now really, was there a need for that?? She may as well have just blurted out that we better go home and paint the nursery blue. I ignored her, however, and Devon and my mother seemed to not pay much attention to her.

When the ultrasound was over, the doctor asked us to come to a small conference room. My mother said, "Do you think she's concerned about the kidneys?" I was totally oblivious, because not much had been said to us during the scan. By now my father had shown up in the waiting room, and mother went and grabbed him and we all sat down in this tiny room.

The doctor came in with a folder of papers. She said, "I think your baby has osteogenesis imperfecta."

What? Hello? Can you please repeat that...what did she just say? The baby? There's something wrong?

My mind started racing. I immediately tried to think of where I had heard that diagnosis before...then it came to me...the movie Unbreakable. Samuel L. Jackson played a character with extremely breakable bones. I had heard of it in nursing school. I said to the doctor, "Do you mean brittle bone disease?"

"Well, no, that would be more of an osteoporosis," she said smugly. Actually, no, I was right. It is also known as brittle bone disease.

I remember breathing very hard, and my parents asking some questions. The doctor was saying, "The baby may not live very long after delivery. And if it does live, it will most likely be confined to a wheelchair for the rest of it's life."

My father asked, "How sure are you?"

She replied, "Eighty to ninety percent."

My mom jumped up and put her arms around me.

For some reason I thought about my childbirth classes. "Will I have to have a c-section?" I asked.

"No, actually not!" The dcotor replied, like she had just delivered me the best news of my life. "It hasn't been proven that c-section is a safer means of delivery for OI babies."

The rest of that visit is a blur. I don't remember much more except standing out in the bright sunshine of the parking lot. My parents were nervous to leave us, but I couldn't wait to get in the car. I needed to be out of there, I needed to let the tears fall, and I needed to get home and get on the internet to do some research.

Devon and I read everything we could find about OI. There were seven types, two of which were most often lethal. The characteristics included short stature, a triangular face, bluish skin and eyes, and skeletal deformity.

After that initial visit, I don't recall many days where we weren't seeing some type of specialist. My boss was wonderful, she let me leave work early nearly everyday in order to make it to another appointment. We had transferred to a perinatalogist, and I was seeing him twice a week. He was a wonderful man, but the visits I had with him produced more and more bad news. The baby had a broken humerus. The gall bladder was distended. Enlarged kidneys and ureters. Swollen bladder. Possible chest cavity deformity. And he couldn't rule out agenesis of the corpus callosum...bluntly stating, he was pretty sure the baby's brain was not completely formed. I had an amniocentesis done for genetic testing. I was also told at this time that Down Syndrome was another possibility.

I didn't know what to think at this time. I was having a hard time believing my baby had a broken bone, because he was just so active. Why would he be moving around so much...wouldn't that be hurting him? Also, during that time, one of the specialists slipped and mentioned that we were having a our gender surprise came early, but we kept it to ourselves. We still wanted to have something to announce to the family.

We kept about our daily activities, but Devon and I were scared. We continued going to childbirth class. We explained what we knew to the people who asked. I remember feeling numb. We thought about OI constantly, and what it would mean for our baby. My mom and I examined all the baby clothing to try and determine if we would potentially break a bone while trying to get him dressed. We lined our baby bathtub with a superthick sponge to protect him from the hard plastic. We investigated special carseats and strollers. The nursery was completely ready, all the blankets and socks in the drawers, rocking chair by the window. I sat there often, just praying that I would be rocking my baby there.

The perinatalogist determined that I would in fact need to have a c-section, and my midwife agreed. I was not allowed to deliver at the hospital I worked at, because it did not have a high-level NICU. A section was scheduled for July 5th at Albany Medical Center.

That was a terrifying day. I was excited to finally meet my little boy and be a mommy, but also scared to death that I would be saying goodbye to him. Part of me wanted to stay pregnant just a while longer, because I knew that meant he was alive and well. Also, by this point, we were honestly quite afraid of what he would look like, since the picture painted for us had been so grim. We were expecting nothing short of an alien.

Our families were there with us. I got hooked up to my IV, answered some questions for the admitting nurse, and Devon got dressed in his surgical wear. I walked to the OR with the nurse anesthetist, and everything after that point feels like a dream. I sat on the table to get my spinal, and no one held my my hospital, when a woman receives a spinal or epidural in the OR, one of the nurses always stands in front of her and hold her hands. After laying down on the table, my head was pretty fuzzy and I felt numb up to my eyeballs. Devon came in then and sat to hold my hand, but I couldn't even feel his fingers. My blood pressure dropped, I heard a little commotion about that, but I had a hard time escaping the feeling that I was trapped underwater. I felt a lot of pulling and pressure, and then I quickly saw a squirmy little pink body being passed to a waiting nurse. I remember looking at Devon and waiting, and then we heard a cry. A cry! It made me cry! We couldn't hear what they were saying about him, but soon a tiny wrapped bundle was brought to the side of the bed, and Devon scooped him into his arms. My little boy. I was staring at my little boy. And he looked perfect! We saw him for just a moment, and then he was rushed away. He went for a full-body x-ray, CT scan, and a kidney test called a VCUG. Devon was able to go with him, and I remained in the OR, letting it sink in that I had just seen my baby, and he was alive and well. No blue skin, broken bones, or abnormal chest. He was doing okay, despite all that had been predicted.

Seamus was born a healthy 6lbs, 13 oz and 19 in long. He spent his first night in the NICU, snoozing soundly on a tiny air mattress, which they had ready for him in case of broken bones. The following day we were visited by a geneticist, who said that Seamus did not have OI, but most likely had a "mild form of dwarfism." All we could think was, thank God we can hug our son without worrying about breaking him. Devon was so happy just thinking about playing outside with him. We breathed a lot easier, but still knew that we might have a tough road ahead. Seamus was officially diagnosed with achondroplasia at three months old. After we made the smart decision to get him out of the genetics practice that sadly knew nothing about achondroplasia, he is now followed by Dr. Bober at DuPont and we have an appropriate care plan in place. We reached out to the POLP support group and made some wonderful, lifelong friends. Our families are a constant source of support and unconditional love. We are blessed and fortunate to have a happy, healthy child with dwarfism. I think back on the fear and uncertainty we experienced and refuse to feel angry that we were misdiagnosed...instead, I feel grateful that we were one of the lucky NICU families that got to take our baby home. Some parents will never experience that. Life is good, and we plan to live it to the fullest.


Katie said...

Oh man! I have chills just reading this! What an amazing story. To be told all the possibilites that you may face and to still keep such a positive outlook. Our story was very different. We were never told one way or the other. It was always "He may have some type of Skeletal Dysplasia, but we won't know until he gets here." The worst feeling of my life for the next 20 some odd weeks. I'm so glad we have found such amazing friends! Can't wait to meet you one day soon :)

Poppy said...

Even though I was there for all of this, the story of our little man Seamus-John is truely amazing and brings tears to my eyes. I am so proud of you and Devon. I know all things happen for a reason - and Seamus is truely a gift from God !
Love You All - Poppy

Kate Reyes said...

I'm so happy that I got to read your story. As a mom tears streamed down my face as I read. It must have been so scary not knowing for so many weeks, and finally welcoming Seamus who is absolutely perfect! You and Devon are so wonderful, John and I are so happy that we were able to reconnect and become close again. :-)

Greene Family said...

Wow, what an amazing story! It definitely brings back a lot of memories for me. We too feel very blessed to be one of the NICU families that got to bring our baby home, and we are so grateful for all of the friends that we have made through POLP. Seamus is so adorable, and we hope to meet you all in person one day soon!

Melissa Swartley said...

What a wonderful story! It is almost parallel to our story! We are still awaiting Sonya's official diagnosis but I know that she is ok. We are so blessed that we were able to bring our babies home from the NICU as sadly some other parents don't get to. Seamus is such a cute and happy kid who is very lucky to have you and Devon as great and loving parents!

How Life Is Measured said...

I cannot believe how similar our stories are!
As I read your story, I was getting so emotional. We also have very similar writing styles so it was very easy for your story to take me back.
I'm so glad you posted that story. Hopefully your story will give others with a poor prenatal diagnosis hope!

Kim said...

So I was doing okay until you said you prayed you would be rocking Seamus in the chair and I lost it. I remember that feeling so vividly, walking into that nursery wondering if he would ever sleep in that crib.
Fast forward three years and change-wow! Our boys are just that-boys-rough a tumble, getting their immaculate clothes dirty while we hyperventilate and being the best boys in the whole wide world.
No one should have to go through what we went through, but look at all of us now.
Love you guys and I thank God for achon because otherwise who would I have to help me at a Day Out with Thomas???

Chelsea said...

oooh my little bug-a-boo...I'll never forget that memorial day weekend when we got the first news. I tried so hard to enjoy myself when I was camping but ended up crying every night... So glad the way it turned out and that my little godson is so healthy and perfect (and achon)!


Destini said...

Wow, what a powerful story, I'm glad I bought a new box of Kleenex today! Thank you for sharing your story, I cannot imagine the emotional stress before Seamus was born. I guess we were very lucky that no one noticed that Trace might have some sort of skeletal dysplasia until he had been with us for about 5 months, and we already knew he was okay (except for the hydrocephalus, of course).

The Weisser's said...

So even though I know the story since we've talked about all of this before, I am still crying!! And all the memories of Ethan's pregnancy & birth just came rushing back! Such a scary, overwhelming, emotional time that I wish no one would ever have to experience! But I thank God everyday that we have this great little boy! He was born this way for a reason! We may never know why, but that doesnt matter!

And if they weren't the way they are, we wouldnt have ever met & become friends with such great people! We have been blessed with 2 awesome little boys, that will be the bestest friends forever!

Luv u guys!

Anna said...

I just found your blog for the first time! Your story put tears in my eyes. What a miracle! Amazing! :)

Little Mimi said...

Dear Emily, I was deeply moved reading your story...I cannot imagine being misdiagnosed during pregnancy...I am sooo glad that we found out about Amelia's achondroplasia after she was born because we could already see how beautiful she is. All the best to you all! LOVE- KASIA and AMELIA

Milk Mama said...

Wow! A miracle boy!!! Seriously! What a blessing!!!

The Everitt Family said...

I AM AMAZED at the strength we have....your story reminds me so much of our own....
Come see

rahul said...

What a wonderful story. This made me cry. All the best wishes to you. I know it’s been many years since Seamus was born. Hope he is doing great.