‘This is dwarfism. I am 99% certain the result will be fatal for the baby.’: Doctor drops bomb on mom during routine ultrasound, ‘He watched me completely break down’

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“I am married to my college sweetheart, Parks. We knew when we met we would get married. We dated, got engaged, married and became pregnant within three years. Once we found out I was pregnant we couldn’t wait to share the news. We told my mom first, on my birthday, when I was only a couple of weeks pregnant. Parks and I made up an excuse for her to come by our house on the way home from work and we secretly took a video of her reaction as we told her – or should I say, as she came across my positive pregnancy test that was conveniently left for her to find. Her reaction was priceless and Parks and I were relieved to be able to share the news. As the weeks passed, and I got closer to that magic 12-week pregnancy mark, we began to share the news with friends and family. I remember the calm that came over me as I began my second trimester. Everything you read and are told is that making it out of the first trimester is huge. Somehow I felt as if I was ‘out of the woods’ as far as any complications were concerned. I settled in, and began to enjoy my pregnancy; I ate what I wanted, didn’t pay too much attention to the scale, and took obligatory weekly photos to document my pregnancy. Along the way, I had regular OB visits, blood testing at 12 weeks, and an anatomy scan at 20 weeks that confirmed our baby was healthy and growing at a normal rate. I was checking all the tests off of my list and my pregnancy seemed to be uneventful and average.

Pregnant wife smiles on outdoor steps of home beside husband
Courtesy of Jamie Sandifer

My 35th week of pregnancy was when it all changed. When I went in for my weekly visit, I was measuring about four weeks ahead. My belly was huge! Sure I had gained weight, more than my doctor wanted me to, but I was enjoying eating for two! I was accustomed to the stern ‘talking to’ that my OB gave me about my weight, but I was in the home stretch, and she wasn’t going to steal my sunshine with her suggestions to cut back and watch what I ate. After all, if the tape measure was correct, I could deliver any time, I was ahead! So why not coast and just worry about my weight after the baby arrived?!  The doctor wanted to perform an ultrasound to confirm what the tape measure reported…four weeks ahead. Instead, during that ultrasound, short long bone (humerus and femur bones) measurements were noted on the baby and my fluid was roughly double what it should have been. Both of these were ‘red flags’ and signs that the baby could have dwarfism, or skeletal dysplasia.

My husband and I left that appointment scared, worried and unsure of what would happen next. We began a fast-paced, whirl-wind journey to get answers. My OB referred me to a maternal-fetal medicine (MFM) specialist who we saw quickly, and we expected to hear him say the measurements taken during the previous ultrasound were incorrect, that our baby’s long bones were not measuring nine to 10 weeks behind. Unfortunately, that didn’t happen. Instead, it was worse. During this ultrasound, my husband, my mother and I endured play-by-play commentary from the ultrasound technician as she was performing the scan. She freely shared her opinion of what she saw and very confidently offered her ‘medical diagnosis.’ The more she spoke, the more my stomach knotted up. She finished the scan and we were taken to an office to wait for the doctor. As we sat and waited, none of us knew what to say.  We were dumbfounded about how quickly things had changed, mad at how the ultrasound technician handled herself, and sad because we didn’t know what to expect. Suddenly the door opened, in came the doctor and genetics counselor. The doctor introduced himself and the counselor, and before they even sat down, he quickly shared his medical opinion (from viewing the ultrasound only), ‘I am certain this is skeletal dysplasia (dwarfism) and 99% certain the result will be fatal for the baby.’ He added, ‘You will definitely be able to tell something is wrong with the baby when it’s born.’ He quickly told us I would have to change my birthing plan, and switch hospitals to be under his care. There it was. A bomb. He dropped it and then watched me completely break down. I couldn’t breathe, I couldn’t talk, I didn’t understand at all. Parks did his best to console me, while trying to process the news, too. My mother, who was with us, was my protector, the ultimate ‘mama bear’ as she sat next to me and held my hand.  As the three of us spiraled, the doctor asked his genetics counselor to tell us about a ‘wonderful’ opportunity to have a new blood test that could determine what type of skeletal dysplasia (dwarfism) the baby had. As she rambled, completely ignorant of the fact that I was in my own puddle of tears, she wrung her hands as if she was anticipating we would say yes to the blood test, as if she was anxiously waiting to make a ‘sale.’ It was horrible. At that point, my mother stepped in. She told the doctor we were leaving and that we were not taking part with anything they had to offer. Parks and my mom scooped me out of the chair and we left, never to return.

The next day, I called my OB and was able to get a referral to another MFM who we visited a few days later. This doctor was wonderful. He had a warm and welcoming personality, was caring and considerate of my feelings and demonstrated the sensitivity I needed at almost 37 weeks into my pregnancy. Although his ultrasound and medical opinion did confirm the baby was going to have some form of dwarfism, he was much more positive and convinced it would be a mild case. He supported our birthing plan and delivering at the hospital of my choice, with the added condition that we have a neonatal physician be present at the birth to support my OB in the event there were any complications. He was so comfortable with his decision, that he phoned the head of the neonatal practice from his cell phone (with us in his office!) to let him know he didn’t foresee anything happening out of the ordinary. THAT was a conversation we were happy to overhear, and we left that appointment with renewed hope for our baby.

I did lose the joy of my last four weeks of my pregnancy during this tumultuous time, and that still makes me sad. Our minds wandered, we spun with the overload of information that had been given to us about our baby’s ‘diagnosis.’ The days were long and all we could do was wait and worry. Wait for the day that Parks and I had been longing for, but now worrying about the day we would meet sweet Finley. Parks was my rock during those last few weeks; his words of encouragement, love and support were constant, and just what I needed.

Husband stands behind pregnant wife as they look at crib in baby's nursery beside their dog
Blake Sorrel Photography

I was one day shy of 39 weeks when Finley arrived – on June 16, 2017. She was 6 pounds, 14 ounces and a petite 18 1/4 inches long. The day we anxiously awaited was finally here and all we needed was to lay our eyes on our perfect baby girl. When we finally met her, it was the best day ever and we were so relieved to finally see her for ourselves. She was perfect. Beautiful. Fresh, rosy skin and crying…loudly! The neonatal physician was quick to tell us what we already knew, but needed to hear – Finley was perfect and healthy – Praise God!

Mother lays in hospital bed kissing newborn
Courtesy of Jamie Sandifer
Husband stands smiling beside wife who holds their newborn
Courtesy of Jamie Sandifer

The follow-up with the genetic center began immediately with cord blood testing. After not one, but two, test results ruling out Achondroplasia (the most common form of dwarfism), a panel was completed to look for an atypical mutation of the FGFR3 gene. And there it was – they found it! In October 2017, we found out that Finley has a rare, atypical mutation of the FGFR3 gene and an unnamed skeletal dysplasia. Finley is one of five recorded cases with this atypical mutation. It’s a mild mutation, somewhere on the spectrum between Achondroplasia and Hypochondroplasia (a milder form of dwarfism). There are over 200 forms of dwarfism, and naming Finley’s specific type may not ever happen. At the moment, neither Parks or I feel the need to pursue any more testing to gain information about what type of dwarfism she has. As long as she is healthy and developing appropriately without problems, we are happy! Finley’s doctors are optimistic and hopeful that she will lead a very normal life, simply being short in stature.

Husband and wife stand in home holding baby daughter who has mild form of dwarfism
Courtesy of Jamie Sandifer
Baby girl with mild form of dwarfism lays on back smiling while holding her feet
Courtesy of Jamie Sandifer

Since Finley arrived, she has thrived! Finley will be 18 months old on December 16.  As she has grown, she has hit developmental milestones as expected and some milestones even earlier than expected for babies with Achondroplasia. Finley is walking, talking, and developing a strong, sassy, independent personality. She has a smile that radiates and her determination shines through her big, beautiful blue eyes!

Little girl with mild form of dwarfism stands in yard smiling wearing floral onesie and yellow purse
Courtesy of Jamie Sandifer

Finley has a wonderful team of doctors who we believe God hand-picked for Finley and our family. We can’t say enough about Finn’s pediatrician, who prayed with us during her first check-up! We knew then he was a keeper. He has been absolutely amazing and we trust him completely. Finley also has six-month visits with her ENT, pediatric orthopedic surgeon, and pediatric neurosurgeon. We visit her genetic counselor and geneticist yearly, so they can track her growth, take photos and compile information about her development since her skeletal dysplasia is so rare. So far, the worst procedure Finley has had to endure has been to have tubes put in her ears for chronic ear infections.

Little girl with mild form of dwarfism stands on sidewalk beside stroller with baby doll in it
Courtesy of Jamie Sandifer
Little girl with mild form of dwarfism stands smiling in yard touching wood fence
Courtesy of Jamie Sandifer

Around the time of Finley’s first birthday, I knew I wanted to begin the journey of advocating for her, and educating people about dwarfism. Because we didn’t know a lot about dwarfism before Finley arrived, I wanted to do something to make the conversation about it more comfortable…accessible…but most of all, acceptable. So during the week of Finley’s first birthday, I launched an Instagram page – @fiercely_finley. I labored over the thought of the page because I want this to be something Finley will be proud of, something she can look back on to see how she grew, and how we grew as a family. I want her to see the love we have for her and the desire I have to educate people about dwarfism. I want to make dwarfism something we can all talk about without the stigma, and without ‘making fun’ of little people, which is sadly, still fairly common. In my heart I think people make fun of what they don’t understand, so it’s my hope that spreading awareness through Finley’s Instagram, will help people understand. I share pictures, videos and stories of Finley doing mundane, typical, daily-life things, so people can see that she is able and confident! She may have to do things in a different way, or learn tasks differently, but her differences do not define her.

Little girl with mild form of dwarfism sits on beach in bathing suit with hot pink hat on
Courtesy of Jamie Sandifer

In the end, we know God gave the perfect baby to us. He knew that we needed Finley, and that Finley needed us. She is perfect in every way and with our love and support, she will grow up to be self-confident and strong! Finley has already helped us to become better parents than we thought we could ever be!”

Little girl with mild form of dwarfism stands in yard with only diaper on smiling at dad
Courtesy of Jamie Sandifer
Husband stands beside wife who holds their daughter with mild form of dwarfism outside their house
Courtesy of Jamie Sandifer

This is an exclusive story to Love What Matters. For permission to use, email Exclusive@LoveWhatMatters.com.

This story was submitted to Love What Matters by Jamie Sandifer of South Carolina. You can follow Finley’s journey on InstagramSubmit your own story here, and subscribe to our best stories in our free newsletter here.

Read about another little boy’s journey with dwarfism:

‘I’m sorry, but I don’t think he’s going to make it.’ I sat flabbergasted, tears instantly streaming. This was not how this day was supposed to go.’

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