Marcella and I are usually very upbeat when we answer each others phone calls, so when I picked up the phone to the sounds of her crying, I immediately knew something was wrong.
Me: "Hello?! What's wrong?! Is everything ok?!"
Marcella: "...they think he has dwarfism..."
Tuesday, October 28th, 2014 was the day that Marcella and I got the preliminary diagnosis. It had only been four days earlier that we had found out that we were having a little boy. We were still trying to process the fact that we were going to have a child, so it's no surprise that we were not prepared for this. I was at the office and had just finished seeing patients for the morning when I got the call from Marcella that rocked my world.
The world went still around me. I had shut myself in one of the offices in our building and all I could focus on was the silence on both ends of the phone and the sound of my own heart pounding in my chest. My little boy has dwarfism. I was speechless. We sat on the phone in silence for what seemed like hours when I finally managed to somehow force out a single word,
"Really?..."
The rest of the phone call was a whirlwind that went so quickly that I'm not even sure what was said. Marcella told me that she was leaving work for the day and I told my office staff to block out the rest of the day for me so I could spend the rest of the day with her.
We arrived home at the same time. We both got out of our cars in the garage and immediately ran to each other and hugged. Marcella buried her face into my chest and I wrapped my arms around her and tried to reassure her that everything was going to be alright. We went inside and spent the rest of the morning holding hands on the couch as we tried to come to terms with the news.
Me: "Well, now what?"
Marcella: "We have an appointment at 1:45 with a maternal-fetal specialist. They want to do a follow-up ultrasound at his office and possibly an echocardiogram this afternoon and see where to go from there."
I began researching everything I could on dwarfism. When I am faced with something new, I immediately begin gathering as much information as I can on the subject. The internet really is a remarkable tool. Any information that you are seeking can be found in an instant if you know where to look. However, when you are in a heightened state of emotion the overload of information can also be a bad thing. Everything I searched for started leading me down the path of worst-case scenario.
Dwarfism and Down's Syndrome can look very similar on ultrasound exam.
Dwarfism can create many health issues from physical disability to compromised organ function.
Some forms of Dwarfism can be fatal.
I slammed the laptop shut. These cases had nothing to do with the case of our son. It was too early to tell and we hardly had any information other than one abnormal sonogram. It was like putting 10 pieces of a 100 piece puzzle together and asking, "Ok, what is it?" The questions were flying through my head at an alarming rate.
Isn't it a little early to diagnose something like this on an ultrasound? I wonder if it's just a false positive? Maybe he's just a small baby? Marcella's the tallest person in her family and she's only 5'4"! How does this happen when we don't have any family history of dwarfism?
The appointment that afternoon with the maternal-fetal specialist consisted of a more in-depth sonogram. It took approximately two hours as Dr. Farley wanted to get as many pictures and measurements as possible. When we were done, we were told we would have his report by the end of the week. We were pleasantly surprised when Marcella's OB-GYN called us a little later that night. She confirmed that Dr. Farley agreed that it did, in fact, look like our son, Brody, has dwarfism. His head and torso measured average for his estimated age, but he was measuring small in the long bones of his skeleton (humerus, radius, ulna, femur, tibia, and fibula) by around 4-5 weeks. Some bowing was seen in the long bones as well.
Brody at 23 weeks
Marcella got a call from Dr. Farley the next evening and he went over his findings. What they were seeing on the sonogram is consistent with a group of conditions known as skeletal dysplasias. Skeletal Dysplasia is the medical term for "Dwarfism". There are more than 350 known skeletal dysplasias and each has it's own unique form of presenting itself. Many times you cannot see hallmark signs of a child's specific form of dwarfism until he/she is born. After the baby arrives, it is possible to do forms of testing such as radiography or genetic testing to narrow it down to a specific diagnosis.
We had another sonogram with Dr. Farley a week later where he sat in and went over all of the findings that they saw with Brody with us as we saw them real-time in his office. Overall most of their findings were very positive. The keys that we took away were:
- His head and brain looked well-developed and on schedule.
- His heart appeared to be normal sized and well-functioning.
- His arms and legs were small.
After we were done, we were encouraged by the fact that as far as they could tell, he did not appear to have a lethal form of dwarfism. Dr. Farley suggested that we make the drive up to Kansas City to Children's Mercy Hospital to have a fetal echocardiogram (fetal echo) to see how his heart was functioning in a more detailed screen. Overall, we were very relieved by the news we had gotten during that appointment. Some good news was much needed at this point and it helped to calm some of our anxiety over Brody's health. Marcella also had what is called a Free Fetal DNA test done which checks for Trisomy 13, 18, and 21. Trisomy 21 is Downs Syndrome and Trisomy 13/18 are incompatible with life. The Free Fetal DNA test came back negative.
If I have learned one thing over the last few weeks, it is how lucky I am to have a woman like Marcella in my life. My wife is a strong woman and I know that she is going to be a great mother when Brody arrives. When you get a diagnosis like this, it rocks your world. It has completely turned our lives upside down, but it has also brought us closer together than ever before. We know that we aren't the first to go through this, and we don't have to do it alone. We have the unwavering support and love that our great families and friends have provided to help us along, but it is also important that we seek interaction and advice from those who have walked this road before us.
We'll be okay, and I know that Brody will be nothing short of a perfect child when he arrives, but the waiting is going to seem like an eternity. I hope you'll follow along. We are learning everything as we go as Brody is our first child. We will share our experiences with you all and hope that our story will help parents who find themselves in our shoes, or help people who don't have much of an understanding of dwarfism better understand the unique challenges and presentations of this condition. Until next time, I leave you with one of our favorite quotes and the theme that we are going with for Brody's nursery.
