My Baby Was Born With Pfeiffer Syndrome, And I Wouldn’t Change Her Uniqueness For The World

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Labor And Delivery

“It all started on the morning of May 14, 2018. My husband and I were so overjoyed to be welcoming our first daughter into the world, in just a few short hours! We had a son just 17 months before, so this was a great surprise… our little family was almost complete.

The drive to the hospital that day was one of the most exciting moments for us. We were about to meet our precious girl. When we arrived at the hospital, we were told things would be delayed for a few hours.

Of course we were disappointed, but we continued to wait anxiously for the nurses to tell us it was time. While waiting, we looked at pictures of our son, imagining what our perfect girl would look like.

As far as the obstetrician was concerned, we were having a perfectly healthy little girl! Not long after we were told to wait, a nurse came in and told us to come on back. We were back on schedule! Our girl was about to come into the world.

pregnant woman takes selfie in mirror
Courtesy of Amber Thibault

Now, because of a previous cesarean AND having placenta previa, a repeat cesarean was necessary. Because of having previa, Halle was also coming 3 weeks and 1 day early.

They brought me into the operating room to get me prepped for surgery. It felt like a lifetime – all I wanted was to hold my baby in my arms.

My son was a NICU baby, so I didn’t get to experience the joy of holding my baby boy immediately after birth. Finally, we were ready to roll.

The nurses brought my husband in to sit beside me. It was go-time. I felt the pressure of them cutting into me.

Looking at the anesthesiologist, I kept asking if the baby was almost out… Then suddenly, I heard a loud cry! She was alive and here, I could finally hold her and kiss her! Halle had arrived.

Going To The NICU

The nurses brought her over to the scale to weigh her and everything seemed to be going perfectly. She was 7lbs 3oz and was 19.5 inches long. The surgeon was making jokes with the nurses and laughing.

That brought me relief. I thought, ‘My baby must be completely ok or they wouldn’t be so joyful right?’ But then I realized the nurse weighing Halle seemed to be stalling.

She was looking for something… but what? I looked at my husband. ‘Why isn’t she letting us see our baby? I want my baby,’ I said.

The nurse grabbed a hat and said I am taking her to the NICU for respiratory problems. I told my husband to follow her and not to leave her side.

I felt sick. All of a sudden, my happiness turned to fear. I just wanted to see her.

After they stitched me up I waited for the longest hour of my life for someone to come in and talk to me. My husband finally walked through the door and said, ‘She’s not normal.’ What was that supposed to mean?

He told me her ears were very low and her head was kind of cone shaped, like if I had given birth vaginally. I didn’t care what was wrong with her, I just wanted to see her.

dad holds the hands of baby with pfeiffer syndrome
Courtesy of Amber Thibault

I was told I had to wait 12 hours for the anesthesia to wear off unless I could regain enough movement in my legs to get into a wheelchair. 3 hours and 45 minutes later I was on my way to the NICU.

When I saw her, I thought to myself, ‘She is so beautiful.’ I didn’t care that she looked different. She was my baby and I loved her.

How could you not love that sweet and innocent little face? Until we got the diagnosis that is.

Living With Pfeiffer Syndrome

When I heard the words ‘Pfeiffer Syndrome’ I panicked and went straight to Google, which is always a horrible idea, but I couldn’t help myself. The results were terrifying. I really thought I was going to lose my baby.

The first article that pops up is ‘Prince’s 6-day-old baby dies from Pfeiffer Syndrome.’ Our world was just completely turned around. She also had cloverleaf deformity which is a severe case of craniosynostosis, that causes the head to be in the shape of a clover.

You see, no one at our hospital had ever seen or heard of this condition. It was the first known case in our county. This was completely new to everyone involved. They had to take a photo of Halle and send it to a larger and more experienced hospital to find out what she had.

This was by far the hardest and scariest time in my life by far. We would come and visit Halle in the NICU every two hours for feedings, but I wanted so badly to be able to take my baby girl home, let her meet her brother and just be able to relax and finally cuddle her cute little body.

Halle was in the NICU for 8 days, which isn’t very long considering most NICU babies are preemies and need much more time there. Also considering her diagnosis, we were very fortunate she got to come home as early as she did.

Her time in the NICU was very stressful. I couldn’t breastfeed as I had wanted to because they wanted to measure everything she ate so it needed to be from a bottle. I was stressed, in shock, exhausted and not eating so I wasn’t producing much milk either.

After her first day in the NICU we were told she was being flown to UC DAVIS, a larger hospital with specialists who could help her. Of course I didn’t want to leave my baby so I asked to get discharged right away so I could go with her. The soonest I could leave was 36 hours, so that’s what I did.

When the time came to fly her out, they had now decided not to unless it was a life or death situation… this happened TWO more times. Why couldn’t they make up their minds? I didn’t know why they were putting us through this. All of this back and forth… for what?

One night I logged on to Facebook and found a Pfeiffer support group page. I posted a little bit about my daughter and I am SO thankful I did, because I met one of the most amazing mammas out there! And she just happened to have a 2-year-old little girl with Pfeiffer Syndrome.

She only lived 2 hours away from us which was the best news ever! She herself never thought she would meet another Pfeiffer baby in California.

She introduced us to her daughter’s neurosurgeon and his team, and I cannot tell you how blessed we have been to have him as her doctor. He is absolutely AMAZING at what he does, as well as kind-hearted and he loves these children.

Leaving The NICU

Also, he was located near UC Davis at a hospital called Sutter Health. Which was PERFECT! After we made the decision he is who we wanted to take care of our daughter, we let the NICU doctor know that is the only place we would like our Halle to get treated.

(If we let her get admitted to Davis she would have had to stay). We only wanted the best to care for our baby.

Close up of baby with Pfeiffer Syndrome's head that his wrapped in white fuzzy blanket
Courtesy of Amber Thibault

Thankfully, it turned out Halle didn’t need to be transferred. Instead she got to come home at 8 days old. We were so happy to be home with our baby girl, and enjoyed every minute of it as much as possible.

Because of what we had heard, the hospital would be her second home for a while. She got to meet her brother, who fell completely in love with her the moment I walked in with her.

It was the cutest thing I had ever seen. He has never even hugged me that like that!

A few days after she came home we made our first appointment at Sutter. They examined her head and decided to schedule surgery right away to relieve the pressure off her brain. On June 21, 2018, they planned to remove our baby girl’s skull.

The first month of Halle’s life I was in shock. I kept thinking, ‘Why her? How am I supposed to take care of her?’

I didn’t feel prepared or strong enough for this. It was almost like I was in a bad dream and couldn’t wake up. I felt as if I was grieving the loss of a child, the one I thought I was having.

I would sit in her room and cry at the thought of my innocent little girl having to go through all of these surgeries. After a few weeks I finally snapped out of it and accepted that this was my life now and she was the most beautiful girl I was chosen to take care of – and let me tell you – she has been one of the biggest blessings that has ever come into my life.

She is so sweet and happy and overall healthy. Yes, she has problems, lots of hospital visits, surgeries and procedures. But that is all worth it to have her in our lives.

A few weeks after having her home, the guilt hit me. As I held her, I just felt so angry with myself.

I was angry I wasn’t given notice of her syndrome, I was mad that my obstetrician didn’t do a growth scan. If she did, maybe we would have found it.

Most of all, I was angry that the first month of her life I didn’t get to enjoy her, like I wanted. If I just would have known, things would be different. The saddest part is that it wasn’t her fault.

I feel like I was trying to push her away and now I missed out on time I can’t get back. It’s something you really don’t understand until it happens to you.

In the time we got to spend at home before her first surgery, we just had ‘us’ time. Family came by to visit and say hello to her. We went for walks, played at the park, and everyone who saw her loved her.

We didn’t take her out of the house too often though because we didn’t want to risk her getting sick and having to delay surgery. She really was the perfect baby. She was quiet, slept a lot, and let us hold her. It was so nice to finally be together as a family.

Little boy lays on ground asleep hugging little sister with Pfeiffer Syndrome
Courtesy of Amber Thibault

First Surgery

We were having such a good time spending the days together and loving our new family, that when the time came for our little girl to have surgery it just crushed us. We were terrified of something going wrong, we didn’t know what to think. She was just 5 weeks old.

On the morning of her surgery I got the kids dressed and fed, and then my husband went to drop our son off at my parent’s house. They would be coming down a little later that day once Halle was out of the OR. Once he came back we loaded Halle into the car and we made our 2.5 hour drive to the hospital.

Check in went fairly quickly. They took us into a room to wait. We talked with many nurses, anesthesiologist and doctors.

It seemed as if we were waiting forever! Not to mention because of the anesthetic, Halle had been fasting for over 6 hours at this time and was not a happy baby.

It killed me not being able to feed her, she was so hungry. After 2 hours of waiting more nurses came in to get her labs.

They couldn’t find a good vein and must have poked her at least 5 times. Her scream had me in tears, my poor baby didn’t deserve any of this pain.

Finally, they found a vein and Halle got to breathe for a minute. They walked us to the doors of the OR where we had to say goodbye for the next 2 hours. We were escorted to the waiting room where we waited.

We met up with our new friends and fellow Pfeiffer family, who had come to support us. We cannot thank them enough for all the support they have given us throughout our short journey so far. I got a call from the surgery nurse telling me Halle is okay, and they would come out to get me once she was awake.

The doctor came out and said she did AMAZING. She wasn’t on oxygen and was breathing on her own (which is huge for our Pfeiffer babies.) It was so good to hear!

He handed me baggy full of her hair and explained they had removed her entire skull and that it would regenerate on its own in a few months. We were told to treat her head as a giant soft spot and he had left just enough bone on the back of her head so she could sleep on her back.

A nurse came in after him and led us to the recovery room to see our precious baby. I could not wait give her some kisses.

There she was, I could see our perfect little angel lying on her bed. She was still very sleepy from the anesthesia. But she was doing great and she was so beautiful, the difference in her head was just amazing.

As I was looking at her, I thought, ‘This girl is the strongest person I have ever met, and she was only 5 weeks old.’ I was so proud to be her momma, and couldn’t wait to hold her. She looked so peaceful.

Baby with Pfeiffer Syndrome lays asleep in mother's arm
Courtesy of Amber Thibault

When her room was ready, we all headed over. My parents arrived along with my son who I missed so much! He gave his sissy some kisses and ran off to play and yell… normal toddler stuff.

The nurses checked her vitals and then I was able to hold her again. She woke up enough to eat some food and snuggle for a bit. Thankfully, she only had to stay in the hospital for 2 days.

She took that surgery like a champ. And just like that, we were home with our baby again.

MRI And Checkup

A few weeks later we brought Halle in for an MRI and a checkup. It was at that appointment we found out she had hydrocephalus which is really common with Pfeiffer Sydrome. Her head was very swollen so they needed to do surgery as soon as possible.

Two days later on September 7th she had her second surgery to place her shunt at almost 4 months old. It has helped her so much. You can really tell the difference – she is so much happier and not in any more pain from all the pressure on her head.

Her 3rd surgery (Chiari Decompression) is schedule for November to remove the bone in the back of her head which is causing tissue to extend into her spinal cord. It also can cause neurological damage, delays in speech, as well as severe sleep apnea.

To prevent that, her surgeon likes to fix the problem before it can damage anything at all which we are so thankful for. He is so on top of everything and this is where we are today.

All I see is beauty when I look at my daughter and nothing will ever change that. I love her uniqueness and I would never want to change her. Her differences make her who she is and she’s absolutely wonderful.”

Baby with Pfeiffer Syndrome holding hands together above her face in pink onesie with lace headband
Courtesy of Amber Thibault

This story was submitted to Love What Matters by Amber Thibault, 27, of Redding, California. Subscribe to our best stories in our free newsletter.

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