‘She has her differences, but she is still our little girl.’: Mom shares daughter’s rare Nager Syndrome diagnosis journey

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Several Concerning Findings

“If anyone were to tell me a year ago I would be where I am today, I wouldn’t believe it. I was like anyone else planning for a second child. My husband and I were so excited to bring a sibling into this world for our 2-year-old son, Oliver. It was August of 2020 when we found out we were expecting baby #2! I felt great during this pregnancy. In fact, I didn’t even suffer from the nausea as severely as I did with my first. The 20-week ultrasound came and went, and our little girl was looking great. She was active, healthy, and growing! Little did I know that at 34 weeks, our world would change.

I went in for a routine appointment and the doctor noticed my belly was measuring bigger than it should at that time, so she decided to do an ultrasound to check things out further. The ultrasound determined I had a large amount of amniotic fluid, so the next step was for me to see a maternal fetal specialist. Around this same time, I had also noticed I was getting very uncomfortable by the day. My belly felt extra tight, I was short of breath, and it was getting increasingly difficult to do daily activities. 

At the appointment with the maternal fetal specialist, they completed a more detailed ultrasound. This took about an hour and a half and was by far one of the most uncomfortable ultrasounds I had ever had. Having all of the extra fluid and lying mostly flat for that long was really taxing. 

After the ultrasound, we were told there were ‘several concerning findings.’ Concerned. That word still haunts me to this day. I don’t think I can adequately describe the feelings I felt after hearing those words. We were almost done with the pregnancy, and to just find out something was abnormal was tough to process. How does one even absorb this kind of information thrown at them in the matter of minutes? Regardless, I tried to remain strong. But so many thoughts raced through my head. I wondered about the ultrasound accuracy, if we should get a second opinion, and wondered why and how this could be happening when everything had been so normal for the last 34 weeks.

The doctor proceeded to tell us our daughter had a protruding upper lip, her eyes were close together, her stomach size was extremely small, her fists were clenched. Because of the size of her stomach and my increased amniotic fluid levels, she suspected she had esophageal atresia. This is a birth defect where the esophagus doesn’t develop properly, which would need surgery shortly after birth.

mom rests hand on baby with nager syndrome while in NICU
Courtesy of Kayla Luder

Within minutes of the news, we were given the choice of having an amniocentesis done to determine if there were any abnormalities with our daughter’s chromosomes. We knew this would not change the outcome for her, but my husband and I wanted to know what we were facing so we could be as prepared as possible for whatever she needed in life to care for her. The results could take weeks and if they were negative there were a few other rounds of testing that could be sent off.

For the next two weeks, we were sent to numerous doctors’ appointments between three cities. We were doing a non-stress test and an ultrasound with a biophysical profile every week. She always looked great. She was active and practicing breathing, but week by week the amniotic fluid levels grew. We were also referred to a children’s hospital because of the possibility our daughter would need surgery for the esophageal atresia as soon as she was born. This doctor also confirmed all of the previous findings from the maternal fetal specialist, except he focused more on the size of her jaw being small and retracted. He also explained it would be incredibly difficult to know a diagnosis until the amniocentesis results were back or until she was born, whichever came first. 

With the amniotic fluid levels, they suspected I would go into labor early and cautioned me to be very aware of signs of labor. During this time, thoughts continued to race through my head. I wondered what her diagnosis was, how her life would be, how we would manage with a 2-year-old at home as well, and if this was all just a fluke. But there was something about hearing it from a second doctor that made everything so much more real. It also brought on so many emotions and felt like I was just told all of this bad news all over again for the second time. 

Enter Ella

Less than a week later, at 36 weeks and 3 days, I started leaking amniotic fluid. The doctors decided it was best for me to go to the children’s hospital to deliver as it was likely my daughter would need surgery right away. Given the fact I had a C-Section with my first born, I would need another for this delivery too. They also determined since her jaw size appeared extremely small, she would need assistance with breathing right away. 

At 36 weeks and 4 days, our daughter, Ella, was born with an incredibly large team of doctors taking care of her. She was born via EXIT procedure (Ex-utero intrapartum treatment). They placed an airway immediately at birth as her jaw was too small to breathe on her own. And for the next 97 days, she was in the neonatal intensive care unit.

team of doctors and nurses in delivery room for labor
Courtesy of Kayla Luder

After her birth, all I wanted to do was see her. I wanted to see for myself if the ultrasound findings were correct. Did she have these facial abnormalities they spoke of? Did she have the shortened arms they measured in utero? The NICU team and my husband met me at my bedside with Ella in a warmer. I was in and out of drowsiness. Oh, how I wished so bad I could hold her, but I couldn’t because she had been deemed as a ‘critical airway.’ Who knew this meant I wouldn’t get to hold my sweet girl for 4 whole weeks? That is right; 4 whole weeks I went without holding my own daughter.

I reached over and touched her tiny little hands for the first time. I could see her, but I couldn’t quite see all of her. I asked my husband if everything was okay and if what they saw on the ultrasounds was true. He said to me, She has her differences, but she is still our little girl.’ And he was absolutely right. That sweet girl was ours and she was born just the way she was meant to be. 

baby with nager syndrome lays in NICU with breathing tube
Courtesy of Kayla Luder

The next 97 days was by far the hardest experience I had ever been through. My first born was born without complications and I had never even stepped foot in a NICU except for one day during nursing school 9 years ago. My daughter was now in the hands of healthcare providers, with a breathing tube, a feeding tube, and all sorts of wires and monitors. I couldn’t hold her, take her home, or even bring my 2-year-old to meet his sister until she was 4 weeks old. My husband and I spent those next 3 months traveling back and forth from our hometown to the children’s hospital, which was about 1.5 hours away, splitting our time between the two kids. 

Waiting For A Diagnosis

As for Ella’s diagnosis, we still didn’t have our answers at birth. All we knew of were the physical differences we could see. It was true her jaw was small and retracted and her forearms were short. We also knew she needed the breathing tube. The doctors explained to us how incredibly small her airway was and how difficult it was to place one. Soon after her birth we met with a geneticist to see if we could get more answers. She asked if we would like to do blood testing to determine Ella’s diagnosis. We of course agreed to the test as we wanted to be as prepared as we could to care for our sweet girl. The blood test would take up to 4 weeks, so in the meantime we tried our best to just focus on the here and now and be there for our girl in the best way we could.

mom sits looking down at daughter in NICU who lays in her arms
Courtesy of Kayla Luder
mom takes a selfie with baby girl who has nager syndrome
Courtesy of Kayla Luder

We were faced with daily decisions and stressors while in the NICU. Lots of talk about the size of her airway, such as if she would eventually need a tracheostomy long term, etc. Despite her airway size, she did well otherwise. She was a fighter, and her personality was quickly present. She was a feisty one who had her opinions as all of the nurses would say. She was loved by many which sure made my heart warm, but I really struggled with not being able to hold my own baby for 4 whole weeks. 

mom holds newborn daughter with nager syndrome
Courtesy of Kayla Luder
mom gives her baby a bath while in the NICU
Courtesy of Kayla Luder

Finally, 3 weeks had passed, and the blood results were in. We finally had a diagnosis. I don’t think I could ever forget this day. The geneticist walked in and the first thing she said to us was, ‘I have great news.’ Great news? I sat there for a brief second wondering if I was dreaming. How could she have great news when all we’d heard over the last 5 weeks was bad news or ‘concerning news.’ 

She proceeded to tell us Ella had a craniofacial condition called Acrofacial Dysostosis- Nager Type, or Nager Syndrome. It is a rare condition that mainly affects the development of the face, hands, and arms. She also told us with this condition, cognition is not usually affected and there is a normal life expectancy. Hearing this felt like a million bricks just got lifted off of my shoulders and I began to tear up with happy tears. The geneticist believed our girl would THRIVE!

girl with nager syndrome stands on a chair smiling
Courtesy of Kayla Luder

She also explained that after reviewing all 3 of our genes, this condition was a result of a ‘genetic misspelling.’ When Ella was formed in utero, there was a mutation in one of the genes that contributes to the development of the bones in the face, arms, and hands. This happened very early on, at the time the sperm and egg met. Therefore, it was not inherited from my husband or myself. Ella is the first of her kind in our family, meaning if we had any more children, they would not have this condition. She also said that although there are no exact statistics out there, this condition is pretty rare. I cannot even put into words the relief I felt after talking to the geneticist and finally getting a diagnosis. The next step now was figuring out what all Ella would need in her lifetime to help her thrive. I was willing to do everything I needed to help her live a full and wonderful life. 

mom holds baby girl in chest carrier
Courtesy of Kayla Luder
family stands together, mom holds daughter while dad holds son's hand
Courtesy of Kayla Luder

Home At Last

After much debate and evaluation of Ella’s airway, the next day, they took her in for a tracheostomy and feeding tube placement. A decision I cried over many times but had finally come to terms with as I knew it was exactly what she needed to help her thrive. The procedure went well, and we spent the remainder of our time in the NICU learning to care for her tracheostomy and g-tube and searching for home nursing care, as she now had to have a caregiver with her 24/7 because of her tracheostomy. July 20th, 2021 finally came, and Ella graduated from the NICU. We were finally able to take our 3-month-old home, and home is where we have been ever since!

mom and dad sit while their daughter with nager syndrome sits in stroller
Courtesy of Kayla Luder
siblings sit next to one another, older brother with little sister
Courtesy of Kayla Luder

Looking back over the past year, there have been many challenges, struggles, tears, and feelings of uncertainty. But I wouldn’t change those experiences because they have shaped me for who I am today. I have learned more than I could have ever imagined. I have learned to never take a single day for granted, to celebrate the little things in life, and to use my experiences to help others. Finding a community going through similar experiences is incredibly therapeutic, and I hope I can be as beneficial to others one day as they have been to me. I have grown as a person, a mom, a wife, and even in my role as a nurse educator. I thank God every day for this family of mine and that Ella is able to grow and thrive at home. She is strong, she is beautiful, and she was made exactly how she was meant to be.”

dad sits with son on his lap while mother holds baby girl with nager syndrome
Courtesy of Kayla Luder
family of four sits on a bench together, wearing matching shirts
Courtesy of Kayla Luder

This story was submitted to Love What Matters by Kayla Luder of Emporia, Kansas. You can follow her journey on Instagram, Facebook, and her blog. Submit your own story hereand be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.

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