I knew something was wrong with my newborn but doctors ignored me- months later my baby was diagnosed with a rare disease

It took months of exams, scans, and blood tests for a Virginia mother to finally get life-changing health news about her daughter Eden.

When she entered the third trimester of her pregnancy, Cheyenne suspected something was amiss with her unborn baby when she was losing weight. Soon after, doctors would discover Eden was not growing at a normal pace.

When she was born, Eden was small, but generally healthy. However, when she missed several important milestones, like holding her head up or sitting on her own, Cheyenne’s worries reemerged and she pressed her doctors for answers.

Eventually, they performed a full sequencing of Eden’s genes, which revealed the little girl had 16p11.2 deletion syndrome, a rare genetic disorder that affects around one in 5,000 people. 

Eden was born happy and healthy, but when she still had trouble holding her head up at four months, Cheyenne suspected something was wrong

At 32 weeks of pregnancy with her second child, Cheyenne saw her doctor for a checkup. Her baby’s fundal height was smaller than normal.

Fundal height is a measurement during pregnancy to approximate the size of the uterus and assess fetal growth. It is measured from the top of the mother’s uterus (the fundus) to the pubic bone in centimeters, and it typically corresponds to the number of weeks of pregnancy.

At 35 weeks, Cheyenne was able to get a growth scan, which revealed her baby was only measuring 28 weeks.

Cheyenne learned her baby had intrauterine growth restriction (IUGR), a potentially dangerous complication that could mean low birthweight, developmental delays, a higher risk of respiratory distress syndrome, and feeding problems. 

IUGR affects around 10 percent of babies and is defined as weighing less than nine out of 10 babies (below the 10th percentile) of the same age.

The delay was most stark in Eden’s abdomen, so Cheyenne received steroid injections in her arms to accelerate the growth of her baby’s lungs, followed by non-stress tests (NST), which assess the health of the fetus by monitoring changes in heart rate as she moves in the womb.

Cheyenne said at 35 weeks pregnant that Eden ‘looked ok on the NST.’

She had two NSTs per week for the next three weeks until she gave birth in April 2023. Eden was small at five pounds and seven ounces, but not so small to worry the doctors and nurses. 

The average baby girl born in the US weighs seven pounds, two ounces, but Cheyenne never expected her baby to be anywhere near that big. Her first daughter weighed six pounds, 15 ounces. 

Eden was overall healthy, but over the next few months, Cheyenne realized her baby was missing important milestones, including being able to turn her head from side to side and hold it up on her own, which infants start being able to do between two and four months. 

Eden also struggled to push down on her legs, another milestone typically seen at around two months.  

Cheyenne told People: ‘The weeks leading up to her delivery were full of anxiety for me. I knew in my gut that something wasn’t normal, and no one could tell me what it was.

‘After a few months, I noticed that she was still very floppy and had no head control.’

Still, friends, family, and even medical professionals assured her everything was normal. Eden’s delays could be explained away. Every child develops at their own pace, so her delay might just be part of her unique timeline.

Cheyenne said: ‘This was the beginning of our journey. I knew at this point, in my mom gut, that my IUGR was related.’

Eden underwent an EEG scan to make sure she wasn’t experiencing seizures. She also underwent X-rays because her hips were not supporting her weight

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At Eden’s 4-month checkup, she was referred to physical therapy to help build her strength and muscle tone. She had been diagnosed with hypotonia, or muscle weakness.

Cheyenne said: ‘We had a CT of Eden’s head because of her macrocephaly (larger head) and an EEG for suspected seizures. Both came back clean. Additionally, we did a hip X-ray because she couldn’t put weight on her legs. That was also clean.’

The hypotonia diagnosis was helpful. It connected Cheyenne to skilled physical therapists who could help Eden achieve first year milestones, from holding her own head up to scooting.

But Cheyenne’s ‘mom gut’ persisted.

She said: ‘People told me I needed to chill and that Eden was fine. They told me well-meaning stories of their delayed children and told me to stop comparing Eden to my older daughter. I knew there was something more.’

At the start of 2024, Eden’s motor skills, lifting her head, pushing up on her arms, and rolling over, were showing signs of regression, so Cheyenne took her concerns to a new pediatrician and neurologist.

According to the Alberta Infant Motor Scale, which assesses gross motor skills in infants, ‘Eden wasn’t (and still isn’t) on the chart after being in the 10th percentile earlier on.  

‘So, if you lined Eden up with 100 other babies her age, she wouldn’t even be close to any of them,’ Cheyenne said. 

A subsequent MRI was normal, but a full panel of genetic testing picked up on something a year’s worth of scans didn’t detect.

Eden is pictured being prepared to undergo a CT scan, one of many over about a year

Cheyenne learned in July that Eden has 16p11.2 deletion syndrome, a genetic disorder caused by the deletion of a small segment of chromosome 16 at a specific location on DNA known as 16p11.2. 

That missing piece affects genes that are essential for brain development and functioning.

As a result, children born with 16p11.2 deletion syndrome typically have a more challenging time learning to walk and talk and socializing with other children.

In 16p11.2 deletion syndrome, people usually have more trouble with expressive language skills – using words and speaking – than with receptive language skills, which involve understanding what others say.

Some people born with this condition may also experience repeated seizures, though Cheyenne said Eden has not shown any signs of this.

About one in 5,000 people have the chromosomal abnormality, and roughly 24 percent of them experience seizures. Researchers have not found evidence to show it shortens a person’s lifespan.

Cheyenne shared the details of her rocky third trimester on TikTok where she has since found a community of mothers who have had to advocate for themselves and their children

Cheyenne was told by friends and family to stop worrying about Eden [pictured], who was generally healthy and happy

The results were a relief for Cheyenne, who said she learned about them in the parking lot of a facility where she had just gotten Eden an assessment for a program called Early Intervention, a system of services such as speech and physical therapy aimed at helping babies and toddlers with developmental delays.

She said: ‘[I] found out that Eden, at 15 months, was still only at a 6-month level in all domains of development. I debated running back in there and saying, “Wait! Here is why!”’

While she was relieved to get the diagnosis, Cheyenne was frustrated that it took over a year.

She said: ‘I had no idea how hard I’d have to fight and advocate for my girl and I realize now that I’m not alone in having to do that.’

Cheyenne shared her story on TikTok, where she found community with other mothers who struggled to get answers for their struggling children.

She told People: ‘There is a whole community of moms suffering in what feels like silence because providers and others around us don’t believe what we say when we express concerns about our children.’

She hopes her story will inspire parents to speak up if they suspect something unusual with their baby’s development.

Cheyenne said: ‘At the time, I worried I was being too “extra” or that I was being annoying. 

‘It is okay to get second and third opinions and if a provider thinks you’re being annoying, then they’re not the right fit for your family anyway.

‘If you worry about being a good mom, you’re probably already a good mom. I spent months worrying about whether or not this was my fault. Did I take too many nausea medications? Is it because I hold her too much? Turns out, this had nothing to do with me.’