‘I looked straight at my husband. ‘Why isn’t he crying?’ He was like a wet sponge. Within seconds, he coded blue.’: Mom births baby with centronuclear myopathy, ‘I will do everything in my power to give him a full, happy life’

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“In May of 2016 we received the exciting news we were going to be expanding our family and giving our son a sibling. We were thrilled! My pregnancy was low key, uneventful, and flew by quickly. At 35 weeks we had some concerns regarding my slowly climbing blood pressure and migraines that didn’t seem to gain any sort of relief. My OBGYN had me start doing non stress tests twice a week and daily blood pressure checks.

Jori Niemann

I was working a shift as a nurse on exactly the 37th week of my pregnancy when I started feeling off. I felt flushed, had a pounding headache, and extremely uncomfortable. I finished up my shift and called my OBGYN on my way home. He said, ‘I need you to get to labor and delivery as soon as you can, we need to assess you and the baby immediately.’ I called my husband who was still at work and told him to meet me at the hospital so I could be checked out. The whole 30-minute drive, my mind was racing. I felt numb that this was even happening and honestly in the back of my mind didn’t think anything would come of the admission.

I was admitted to the floor quickly, hooked up to monitors and within 30 minutes my doctor was in the room. He looked at my husband and I, ‘You’ve developed pre-eclampsia and I think it’s in the best interest of you and the baby if we induce labor right away.’

I don’t think the shock really set in. I just remember sending out a quick text to our families that we were going to be having a baby within the next 24 hours while my husband made arrangements for our 4-year-old to stay with family. Our induction was started quickly and within 6 short hours the doctor informed us we’d most likely be meeting our son within the next hour. My husband has always been the rock in our relationship since the day we met. When all the details were worked out for our oldest he came over to the bed, held my hand, looked me in the eyes and simply stated ‘Jori, everything’s going to be okay. I’m not going anywhere and soon we’ll be holding our boy.’

I was in so much shock from how quickly plans had changed that I honestly was numb through most of my labor and delivery experience. It wasn’t my first time and I had never suspected for a moment anything was wrong with my baby. I anticipated possible complications with myself. I watched movies on the IPAD with my husband and played on my phone. Everything was going smoothly, I had been able to relax, my body was progressing well, and on January 7, 2017 we welcomed our beautiful baby boy Luxton into the world.

I was so excited to snuggle him, nurse him, take pictures of him, and show him off to our families. Those dreams were quickly ripped from my grasp literally, as within seconds of him coming into this world I quickly knew something was wrong, extremely wrong. Prior to Luxton’s birth, I’d worked as a registered nurse for high acuity infants and children. I know the first thing you listen for after a baby arrives is a cry. I never heard one. I remember looking straight at my husband and saying, ‘Why isn’t he crying?’ The doctor quickly asked for assistance and within seconds I heard a mother’s worst fear. A code blue was called to my room and it was filled with so many people I lost count.

He was whisked away to the NICU while I was recovering in my room and being treated for some mild postpartum complications. My husband made sure I was stable and quickly followed behind to be with our son at my request. He gripped my hand firmly and hugged me. As he leaned in I remember telling him, ‘Please take care of our boy. Do anything you need to make sure he’s going to be ok.’ I’ve been apart of countless codes in my career but had never imagined ever having to watch one be called on my child. I was lost in all of these thoughts as I sat in my room waiting for my epidural to wear off so I could get in a wheelchair to go see my son. I’d barely gotten a glimpse of him in the short time he’d been earth side. I was trying to get a handle on my pain management post delivery but my anxiety was sky rocketing. I kept looking at the clock, wondering if he’d still be alive when I finally got to see him.

I wondered if he missed me. Was he scared? Was he in pain? I was incredibly sad I wasn’t able to do everything myself in that moment he needed. My husband was a saint and texted me a million pictures and videos. I was no stranger to tubes, monitors, wires, and beeps as I heard them literally every second I was working a shift. That would never prepare me for the overflow of emotions that literally flooded my head as I was wheeled into the NICU to finally see my son.

He was hooked up to CPAP (a machine to breath for him). I quickly got a run down from the neonatologist caring for him that his muscles were extremely weak, he wasn’t able to initiate a breathing motion on his own. He had a lot of secretions he couldn’t manage, and he had very low tone. As I was told all of this I felt like I was in literal hell. He kept talking to me but I zoned out as I reached out with my finger to hold his little hand and he couldn’t even grip it. The only way to describe him was like a wet sponge, his movements literally were non-existent. His eyes were unable to open, he couldn’t close his mouth, and he just laid there. I’m not a very emotional person. I didn’t sob or cry. I remember feeling so numb I had to remind myself to breathe and reposition myself frequently as I had just had a baby.

Jori Niemann

Around 3 a.m., after sitting beside him just listening to the hums and beeps of his equipment, a nurse finally convinced me to go get some rest and eat something so that in the morning I would be able to coordinate more with the NICU team. Over the next few weeks, several tests were run which all came back normal but there was no improvement with Luxton’s condition. He was born at a smaller hospital in our town with a low acuity NICU, so it was decided quickly to have him life flighted to the local children’s hospital about 45 minutes away. He was transported in the middle of a snow storm and we followed in our car. He arrived in 15 minutes and we arrived almost 2 hours later due to the horrible storm. During the long drive we discussed what our plan was for him. We talked about every end of the spectrum the situation could land on. If he was too sick to be comfortable in this world, were we going to be okay saying goodbye? What if he required life long care, were we up to handle that? It didn’t take us long to decide we would fight beside him and take whichever course he led us down. He was our son and anytime we had with him regardless of the trials were a gift and we felt incredibly blessed he was ours.

Jori Niemann

We spent another 2 weeks with more extensive testing, new specialists, and at the end of the 2 weeks we were still left where we started. Our son was one huge medical mystery. We met with a geneticist who used two phrases I’ll never forget ‘your son most likely has an undiagnosed neuromuscular disease’ and ‘these types of cases very rarely live to see their 6 month birthday.’ He then shook my hand and left our pod.

I immediately grabbed my pumping bag as pumping milk for my baby felt like the only tiny bit of control I had in this situation. I locked my door to my pumping stall and then started sobbing. It was a gut wrenching sob, the pain literally felt like someone had stabbed me straight to the chest, and I felt like I couldn’t even breathe. This lasted 15 minutes until I was able to calm myself enough to head back through the doors to the NICU. I didn’t make it very far down the hall when my husband gently grabbed me by the shoulder and asked me what had happened as he had just made it up to the hospital from a work shift. I remember looking away from him because I couldn’t look him in the eye. I caught my reflection in the glass, mascara literally wiped clear across my face, I had the messiest of messy buns, and I looked like I’d been in a bad fight. He wrapped me in his arms and I literally sunk to the ground as I told him, ‘They just told me he’s going to die.’

Jori Niemann

The rest of that day is literally just a memory that has been retold to me by my husband. I mentally checked out and told him I couldn’t say goodbye to our son. I will be very raw and honest when I say that day took me to a very dark place. I didn’t feel like I was equipped to handle a child with such huge medical needs. I was naive enough to think this kind of thing could never happen to my child. I’m a nurse for these type of children but there is no possible way that it could ever happen to me. How very naive that 24-year-old mom was in those next few days. A week after receiving the life shattering news they informed me he was going to need a feeding tube to go home safely or if I didn’t feel comfortable caring for him that there were facilities that took ‘babies like him.’ It was in that moment a light switch went off. I looked straight at the doctor and told him we wanted a G-tube placed as soon as he was stable enough so we were able to take him home. If we only had a few months left with him I was not going to spend them in the 4 walls of a NICU. They were very supportive and within the next 2 months after several close calls he was stable enough for us to finally take him home.

He was a little over 3.5 months old when we got to bring him home to stay. He was still very floppy, needed assistance with every movement, every feed, and constant monitoring. Over the first year of his life we accrued a team of 13 different specialists, 4 therapists, and tons more questions. All of the tests they ran came back normal and no one had any idea what was wrong. The one test we desperately needed to have done for our insurance was denied 3 times. The test known as a whole exam sequence or (WES) rest for short is a test run by a blood sample from the child and both parents and it compares thousands of genes side by side to see if there is a genetic error or coding issue in a gene. If there is one located, they look to see if one or both parents possibly carry the same genetic coding error.

Finally right after his first birthday we got the news the test would be run through a research study but could take up to 6 months to yield any possible results. At 16-months-old, I was at work when I received a call from our neuromuscular team that I needed to call them back. I immediately called them as soon as I was on break and our doctor said ‘We found something, but I don’t want to discuss it over the phone.’

Fast forward 2 long weeks, we sat down with our team and they told us our son had a rare congenital myopathy he had inherited from a faulty gene my husband and I carried with no idea. This gene had only been discovered in a handful of patients and the specific disease our son had was only found in 3 other patients and our son was the only living case with his specific mutations. The others had passed away before their first birthday. They told us there was little to no research available and that our son was now writing his own story.

He just turned two a couple of weeks ago and is literally blowing people’s minds with the incredible things he is accomplishing.

Jori Niemann

I made a promise to him the moment I snapped out of my post-traumatic anxiety that I would spend my entire life giving him everything in my power to live a full, happy life. Whatever accommodations or sacrifices I had to make would be done in a heartbeat because I was determined to give him the world and that is exactly what we have done.

Jori Niemann

Since the day he came home he has received physical therapy, occupational therapy and speech therapy weekly. We definitely owe his amazing progress to these therapists as they showed us different techniques and tips to help children with his type of muscle problems thrive and get stronger. They’ve also helped us obtain adaptive equipment such as a walker, a strander, and his wheelchair. All of these services have helped us help him build his stamina and he has learned different ways to adapt his body with his disability to achieve skills needed for everyday life. His muscle disease is progressive, over time his muscles will continue to breakdown and a method to slow the process is therapy. He will require therapies his whole life to continue to keep him as healthy and strong as possible. There is currently no known cure for centronuclear myopathy type 5 which is his official diagnosis.

Jori Niemann

If there is one thing I can bring awareness to by sharing my son’s story, it’s that it is completely normal and human to feel like your life has been ripped away from you when you get life-shattering news. It doesn’t change your heart, you are still an incredible parent and have so much love to give. I had to cope and grieve so that I was able to stand up and fight with him. I remember being so scared to share that my son had a genetic disease. I was terrified people would blame me, think I was the cause, or something was broken about me. Luxton has quickly taught me none of those fears ever held any sort of validity. He teaches us something new daily, he is so full of life, he’s never stopped fighting, and neither will we. We don’t know how much time we get with this special soul so we live each day like we may not get another. We will continue to advocate that these special spirits deserve every opportunity that every able bodied person does and that inclusion is everything!”

Jori Niemann

This story was submitted to Love What Matters by Jori Niemann. Follow her journey here. Submit your story here. For our best stories, subscribe to our free email newsletter.

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