A mom had to argue with doctors about her daughter after she began exhibiting strange symptoms. It turns out she had a rare disorder.
But the mom, named Cheyenne, said that her pregnancy started normal except for some nausea. "I lost about 15 percent of my body weight, but other than that, things seemed okay," she told PEOPLE, "until around 32 weeks."
Doctors noticed that her baby's height wasn't quite where it should be at her 32-week appointment.
"There's a little wiggle room with fundal height. But my midwife sent me for a growth scan out of an abundance of caution. It took about three weeks to get in," Cheyenne shared, "and I immediately knew things were not right."
The growth scan showed that her baby was measuring small. They gave her a dose of steroids. However, doctors ended up scheduling an induction at 38 weeks. "The weeks leading up to her delivery were full of anxiety for me," Cheyenne recalls. "I knew in my gut that something wasn't normal, and no one could tell me what it was."
Her daughter, Eden, was born weighing 5 pounds, 7oz. At first, she appeared to be otherwise fine outside of low blood sugar. However, she began to show symptoms in the weeks after she went home. The mom became concerned about her daughter.
Mom Gets Diagnosed
"After a few months, I noticed that she was still very floppy and had no head control," Cheyenne shared. "This was the beginning of our journey. I knew at this point, in my mom gut, that my IUGR was related."
However, tests showed nothing that should concern her. A follow-up hip X-ray came back clean as well. When she was 4 months old, her daughter developed hypotonia (decreased muscle tone).
"People told me I needed to chill and that Eden was fine," Cheyenne says. "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."
"It hurt me so deeply that so many people brushed me off and so few people helped carry the weight of this burden," she adds, "but I'm so thankful for the family, friends, and our physical therapist Allison for believing me and helping to carry our load."
Ultimately, the mom chose to swap pediatricians and neurologists. However, her MRI came back normal. They scheduled a genome sequencing test.
"In the early months of this year, we switched pediatricians and neurologists because Eden has regressed in her gross motor skills. On the Alberta Infant Motor Scale, 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," she explained.
The mom learned that Eden had 16p11.2 deletion syndrome. It causes both developmental delay and intellectual disability. Many people also have autism that have the disorder as well.
The mom felt relieved to have a diagnosis. "I actually got the results in the parking lot of a facility where I had just gotten Eden an assessment for Early Intervention and 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!' " she says.
