I knew something was wrong with my newborn baby, but the doctors ignored me. Months later, my baby was diagnosed with a rare disease

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

As she entered the third trimester of her pregnancy, Cheyenne suspected something was wrong with her unborn baby as she was losing weight. Shortly afterwards, doctors discovered that Eden was not growing at a normal rate.

When she was born, Eden was small but generally healthy. However, when she missed several important milestones, such as holding her head up or sitting alone, Cheyenne’s concerns resurfaced and she pressed her doctors for answers.

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

When she was 32 weeks pregnant with her second child, Cheyenne went to her doctor for a checkup. Her baby’s fundal height was smaller than normal.

Fundal height is a measurement taken 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 usually corresponds to the number of weeks of pregnancy.

At 35 weeks, Cheyenne was able to get a growth ultrasound, which showed that her baby was only 28 weeks old.

Cheyenne discovered her baby had intrauterine growth restriction (IUGR), a potentially dangerous complication that could mean low birth weight, developmental delays, a higher risk of breathing problems and feeding problems.

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

The delay was greatest in Eden’s belly, so Cheyenne was given steroid injections in her arms to speed up the growth of her baby’s lungs, followed by non-stress testing (NST), which assesses the health of the fetus by monitor changes in heart rate. she moves in the womb.

Cheyenne said when she was 35 weeks pregnant, Eden “looked great on the NST.”

She was given 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 that the doctors and nurses were concerned.

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

Eden was generally healthy, but over the next few months Cheyenne realized that her baby was missing important milestones, including the ability to turn her head from side to side and hold it up independently, something babies can do between ages two and two. four months.

Eden also had difficulty pushing her legs down, another milestone typically observed around two months.

Cheyenne told People: ‘The weeks leading up to her delivery were full of fear for me. I knew deep down that something was not normal, and no one could tell me what it was.

‘After a few months I noticed that she was still very limp and had no control over her head.’

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

Cheyenne said, “This was the beginning of our journey. At that moment I knew in my mother’s womb that my IUGR was related.’

At Eden’s four-month check-up, she was referred to physiotherapy 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 due to her macrocephaly (larger head) and an EEG for suspected seizures. Both came back clean. We also did a hip x-ray because she could not put weight on her legs. That was clean too.’

The diagnosis of hypotonia was helpful. It connected Cheyenne to skilled physical therapists who could help Eden achieve freshman milestones, from holding her own head up to riding a scooter.

But Cheyenne’s “mother feeling” remained.

She said: ‘People told me to relax and that Eden was fine. They told me well-meaning stories about their delayed children and told me to stop comparing Eden to my eldest daughter. I knew there was more.’

By early 2024, Eden’s motor skills—lifting her head, pushing up her arms, and rolling over—showed signs of decline, so Cheyenne brought her concerns to a new pediatrician and neurologist.

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

“So if you lined Eden up with a hundred other babies her age, she wouldn’t bond with any of them,” Cheyenne said.

A subsequent MRI was normal, but a full panel of genetic tests picked up something that a year’s worth of scans couldn’t detect.

Cheyenne learned in July that Eden has 16p11.2 deletion syndrome, a genetic condition 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 the development and functioning of the brain.

As a result, children born with 16p11.2 deletion syndrome typically have greater challenges learning to walk and talk and interacting with other children.

With 16p11.2 deletion syndrome, people typically have more difficulty with expressive language skills – using words and speaking – than with receptive language skills, which involves understanding what others say.

Some people born with this condition can also experience repeated seizures, although Cheyenne said Eden shows no signs of that.

About one in 5,000 people have the chromosomal abnormality, and about 24 percent of them experience seizures. Researchers have found no evidence to show that it shortens a person’s lifespan.

The results were a relief to Cheyenne, who said she heard about it in the parking lot of a facility where she had just given 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 that at 15 months Eden was still only at the 6 month level in all developmental domains. I considered running back in there and saying, “Wait! Here’s why!”

Although she was relieved when she was diagnosed, Cheyenne was frustrated that it took more than a year.

She said, “I had no idea how hard I would have to fight and advocate for my girl, and I now realize I’m not the only one who has to do that.”

Cheyenne shared her story on TikTokwhere she found community with other mothers struggling to get answers for their struggling children.

She told People: “There is a whole community of mothers who are suffering what feels like silence because caregivers and others around us don’t believe what we say when we express our concerns about our children.”

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

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

‘It’s okay to get a second and third opinion and if a provider thinks you’re annoying then they’re not right for your family anyway.

“If you’re worried about being a good mother, you’re probably already a good mother. For months I worried about whether or not this was my fault. Have I taken too many nausea medications? Is it because I hold her too much? It turned out this had nothing to do with me.”