‘She wouldn’t take a bottle or sippy cup. The nurse said, ‘That can’t be right.’ Something was wrong. This was my fault.’: Mom advocates for daughter with rare Chung-Jansen Syndrome, ‘Listen to your instincts’

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“A mother’s instinct is almost always correct. You know your child better than anyone, so when that little voice inside your head is telling you something may be wrong — you better damn well listen and listen well. This is that story.

When my husband and I were bouncing around the idea of a second child, he was hesitant due to our daughter, Vivian, being premature.

‘But what if the baby is born with special needs? Like autism or something?’ he said. That was the furthest thought from my mind. Yes, Vivian was a preemie but she hit all her milestones on time and had no delays. I assured him everything would be fine and we would love the baby no matter what. So we went for it and on December 14th, 2018, our second baby girl, Eleanor, was born full-term with no complications. Roughly 4 years and 3 months is the age span between the girls, so it had been a hot minute since I’ve had a newborn.

It was tough adjusting to life with two kids Anyone who says otherwise is a damn liar! I was exclusively breastfeeding Eleanor while trying to take care of the house, running Viv to and from school, and keeping up with my photography business. I realized my mental health was taking a toll, so I asked to be put on anti-anxiety medicine. (I had zero shame admitting I was on the struggle bus.)

Courtesy of Christy Leiter

Fast forward to July of 2019. Eleanor was about to turn 7 months and I was starting to get concerned about her not being able to bear weight on her arms and legs, not being able to roll either way, and not being able to sit up on her own.

‘She’s probably just lazy.’ ‘You’ve got to do more tummy time, keep her on her belly for 10-15 minutes, and I bet she will figure it out.’ ‘She’ll do it, don’t worry.’ These were some of the comments I was getting from both friends and family… but I truly felt that something was just not right. Maybe her shoulders were hurting her? Could something be off with her arms? I made an appointment with her pediatrician and felt kind of silly explaining the reason for our visit.

July 16th, 2019 marks the start of our special needs journey. I just did not know it yet at the time. I had my mom watch Viv for me so I could take Eleanor to her appointment with her pediatrician early that morning. He did a quick exam, placed her on her belly to see what she would do, then her back, and tested if she would grab onto his finger to pull herself up. My concerns were validated and he saw what I saw.

‘You know, my wife told me when I started my first day at the practice if a mom comes in saying they feel something is wrong with their kid, you better damn well listen to them because they always know best,’ Dr. B., Eleanor’s pediatrician, said.

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Prior to leaving that appointment, Dr. B put in referrals for Eleanor to be seen by a neurologist and to get evaluated for Physical Therapy services through Nationwide Children’s. I was happy we were going to get the ball rolling on things and in my mind, I still was convinced it’d be a simple fix of maybe adjusting her shoulders, and she’d be good to go! He also told me to get Eleanor evaluated through Help Me Grow, which is Ohio’s early intervention program. The next two months were filled with appointments and evaluations. Eleanor easily got approved for weekly PT sessions through both Nationwide Children’s and Help Me Grow. We also met with the neurologist, who ordered a few blood tests and a brain MRI. It was at that moment when I realized what we’re potentially dealing with will not be an easy fix. Luckily, Eleanor’s blood work and MRI came back normal so her neurologist submitted a request for the MicroArray genetic test through our insurance. We were at the mercy of our insurance.

Courtesy of Christy Leiter

It was now September of 2019 and Eleanor was approaching 9 months of age. She was still exclusively breastfed, wouldn’t take a bottle or sippy cup, and would not eat a thing. A voice inside of my head was once again telling me something was up. I told my husband it seemed like Eleanor just didn’t know how to bite and chew anything. We knew she had hypotonia (low muscle tone) but my concern was about how she was going to grow and thrive strictly just from my breast milk. I mean, I couldn’t breastfeed her forever and she already was having significant delays with her gross motor skills. Could this be the cause of what was holding her back developmentally?

Back to the pediatrician’s office we went, only this time I did not feel silly making the appointment. I had only been a ‘special needs parent’ for a few short months, but I knew NO ONE was going to care about my child as much as me. I had to be Eleanor’s voice and advocate for my sweet girl.

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‘Food before one is just for fun.’ That stupid phrase made me sick every time I heard it. That is fabulous, Karen, that your kid can eat anything and everything at 7 months old, but it seems like my kid physically CAN’T chew or bite so shove aside so I can figure out the root of the issue.

I expressed my concerns to Dr. B and even asked if she would possibly need a feeding tube down the road if we couldn’t get her to eat. I didn’t really have a concern about her not getting enough milk from me because she had enough wet diapers throughout the day. He assured me feeding tubes are only used in extreme circumstances. Eleanor was growing, just slowly, but he put in a referral for her to be evaluated by the Comprehensive Pediatric Feeding Clinic. While we were waiting for the call to see when they could fit Eleanor in, I was greeted with a lovely denial letter in our mailbox from our insurance. Their reasoning stated that she had to be seen by Genetics FIRST in order to deem the MicroArray blood test medically necessary. The next available appointment would be in FOUR MONTHS, but if I wanted to check back to see if there were any last-minute cancellations, I could. So that’s what I did. I called every other day, just hoping to get Eleanor in sooner so we could finally get some answers.

It was now just a few days before Halloween. Eleanor and I had to get up super early to make our 7:00 a.m. appointment with the Feeding Clinic. Vivian had a sleepover with her grandparents the night prior so I could put all my focus into this evaluation. I am forever grateful we have family close by to help when needed.

Courtesy of Christy Leiter

Prior to this appointment, I did a quick search to find out what would take place during Eleanor’s evaluation. She would be seen by different specialists (dietician, psychologist, feeding therapist, social worker, physician) one at a time, then they would collaborate to come up with the best plan of action for her. I was thrilled we would find out that day what our next step should be.

El and I were called back to be evaluated. The nurse took her height, weight, and head circumference. Paused… then zeroed out the scale again. ‘That can’t be right,’ she said. I could tell that something was wrong. We shuffled into the exam room and waited to be seen by the first specialists. Approximately two hours later, the evaluation is complete, Eleanor was exhausted and I was mentally drained from answering a thousand questions about missed milestones, lack of interest in eating, what we have and haven’t tried yet, etc.

‘Eleanor?’ the nurse practitioner called out. My stomach instantly dropped. The walk to the conference room seemed to take forever. We’re greeted with all of the specialists sitting at a long, rectangular table. I swear you could cut the tension with a knife, everyone was quiet but put on smiles. I sat down at the end of the table while holding Eleanor on my lap, waiting anxiously to hear I was not overreacting. ‘After getting all of her measurements, doing a throughout evaluation of how she does when you place food in front of her, taking note of her missed milestones… we have labeled Eleanor as being Failure to Thrive. It appears she has barely grown or gained in close to 4 months. With that being said, we feel it would be best to have an NG (nasogastric) tube placed and go from there.’

Without a doubt, I told them absolutely this is what Eleanor needs. I was hopeful this was the key to get her to progress with her skills AND eating. I mean, if she was never really full, how could we expect her to have the energy to chew or crawl? The clinic told me they would call as soon as a bed opened up at the Main Hospital as she would have to be admitted for 5 days.

Courtesy of Christy Leiter

I kept it together until the appointment was over. As I was strapping Eleanor in her car seat, I felt a wave of grief. I felt like I failed her. My milk was not enough for her and this was my fault as to why she was so delayed with her gross motor skills. From that day forward, I dove headfirst into the special needs community, learning, engaging, and connecting with other parents that are going through similar struggles. I joined support groups on Facebook, created an account for her on Instagram, and followed similar hashtags. I eventually created a YouTube channel as well, which shows little clips of our day, some of our favorite products we use to help with her hypotonia, etc. It’s comforting I am NOT alone in this journey and realizing just how important it is to advocate for your child.

Remember how we were not able to get an appointment with Genetics for a few months so we could get the approval for the MicroArray test? We were able to see someone from that department the first night of Eleanor’s stay! You learn quickly when you’re a special needs parent, you always have to find that silver lining somewhere and that was it! After 5 days of monitoring Eleanor’s NG tube feeds to ensure her body could handle it, we were able to leave the hospital and take our sweet girl home. My husband and I were a bit nervous about the tube feeds, changing the tape, and placing the NG tube if it got ripped out, but we got the hang of it quickly!

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As the weeks went by, Eleanor slowly started to gain weight and energy, she was now able to sit up on her own and roll both ways just before celebrating her first birthday. About 6 weeks post NG tube placement, the Feeding Clinic wanted us to come back in for a follow-up appointment. We faced two options:

Option A: We could have Eleanor enrolled in their Comprehensive Feeding Program that wouldn’t take place until March. It’s a 6-week program, 5 days a week that would require us to stay at their facility the majority of the day so they can work on her eating. She would still have the NG tube and there was not a guarantee the program would be successful for her.

Option B: Get rid of the NG tube and have a G tube surgically placed, which would require general anesthesia and an overnight hospital stay. We went with Option B. At that time, Eleanor was already getting feeding therapy which was not really successful and the first option just was not feasible for our family because we do have another child.

Courtesy of Christy Leiter

As we waited for the call to see when Eleanor could get scheduled for surgery, we finally got the test results from the MicroArray test. Negative. They also tested her a few syndromes and did a metabolic panel. Negative. I was relieved but that just meant we needed to get digging for an answer as to what was causing her delays. Genetics ordered a mitochondrial panel and WES (Whole Exome Sequencing) test to be done since the MicroArray did not give us any answers.

Eleanor got her G tube surgery on January 9th, 2020. Life was so much easier without worrying about her tube getting ripped out or changing the tape on her face every couple of days.

Courtesy of Christy Leiter

The next thing I was focused on getting her the proper equipment she needed to help her thrive with her motor skills. We got her fitted for a standing frame since she was still unable to put weight on her legs. Once we got the approval for that, our next step was getting her fitted for SMOs (Supramalleolar Orthosis), which are braces that go on her feet and around her ankles to help with stability. We also were able to borrow a gait trainer from her physical therapist to help Eleanor learn how to move her legs to take actual steps.

Courtesy of Christy Leiter
Courtesy of Christy Leiter

Our insurance finally signed off on Eleanor getting the WES test, so it was off to the hospital for her, my husband, and I to get our blood drawn. This was honestly our last hope at getting a proper diagnosis for our girl since we had exhausted all other options with testing. If nothing came back from WES, Eleanor would be labeled as having Cerebral Palsy and we would be able to have the bloodwork submitted for WES again in a year to see if there were any new variants discovered.

After 4 months of waiting for the WES results, we got a match. It had been 356 days since the start of this crazy journey with no answers as to what was causing Eleanor’s delays all changed on July 8th, 2020. Eleanor was diagnosed with an extremely rare autosomal dominant disorder called Chung-Jansen Syndrome. This disorder was just discovered two years ago and less than 30 people in the entire world have been diagnosed with it.

Courtesy of Christy Leiter
Courtesy of Christy Leiter

I can now rest easy knowing we finally got our answer and now we are able to get her the best help humanly possible. Eleanor is still not able to pull to stand, walk, or eat much by mouth, BUT I know she will eventually get there one day.

The biggest take away I want people to get from reading our story is just how important it is to advocate for your child. If I never made that initial appointment with her pediatrician last July, I know for a fact Eleanor wouldn’t have made the progress she has today. If your instincts are telling you something may be off, listen to them! You know your child better than anyone else. Do not be afraid to speak up and use your voice.”

Courtesy of Christy Leiter

This story was submitted to Love What Matters by Christy Leiter from Westerville, Ohio. You can follow her journey on Instagram and YouTube. Do you have a similar experience? We’d like to hear your important journey. Submit your own story here. Be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.

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