Mom Urged Doctors to Pay Attention to Daughter's Symptoms. Months Later, She Was Diagnosed with Rare Disorder (Exclusive)

Mar. 15, 2025

Cheyenne’s daughter Eden getting a CT scan (left), Cheyenne learning a genetic counselor found something.Photo:shecheynne/TikTok (2)

shecheynne/TikTok (2)

Cheyenne remembers that her pregnancy “started out normal,” with the exception of some struggles with nausea.

“I lost about 15 percent of my body weight, but other than that, things seemed okay,” she tells PEOPLE, “until around 32 weeks.”

“There’s a little wiggle room with fundal height, but mymidwifesent me for a growth scan out of an abundance of caution. It took about three weeks to get in,” Cheyenne shares, “and I immediately knew things were not right.”

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“The weeksleading up to her deliverywere 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.”

Thankfully, when it came time to welcome Eden last year, the delivery “was beautiful and perfect,” she shares.

“I had the best team at Inova Fair Oaks,” Cheyenne says of her delivery in Virginia. Eden “was born 5 lbs., 7 oz., which was just barely considered a low birth weight. She had low blood sugar and was given glucose but was otherwise fine.”

“After a few months, I noticed that she was still very floppy and had no head control,” Cheyenne shares. “This was the beginning of our journey. I knew at this point, in my mom gut, that my IUGR was related.”

At her 4-month visit, they were referred to physical therapy to help Eden get stronger. “We had a CT of Eden’s head because of her macrocephaly (larger head) and an EEG forsuspected 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,” Cheyenne says.

“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.”

Cheyenne continued to seek other opinions as she advocated for her daughter.

“In the early months of this year, we switched pediatricians and neurologists because Eden has regressed in her gross motor skills. On theAlberta 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 explains.

“We finally got an MRI and a referral to genetics. The MRI was normal,” Cheyenne says. But a genetics appointment in May, in which Eden underwentwhole genome sequencing, finally offered answers.

In July, Cheyenne learned Eden is living with 16p11.2 deletion syndrome. According to theNational Organization for Rare Disorders, “People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features of autism spectrum disorder. Some affected people have minor physical abnormalities; however, signs and symptoms vary.”

Cheynne “was relieved to get a diagnosis,” she says. “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.

Sharing the news with others came with mixed feelings, however. “I think some of the people around us were sad and felt bad for us, but I was so happy to have an answer and to be affirmed in that way.”

“Everything Eden has gone through — the big stuff like IUGR and global delays, and the small stuff, her small hands, head shape, digestive upset, etc. — can be attributed to 16p11.2 deletion syndrome,” she notes. “With a diagnosis, we’ve been able to connect with other families with similar stories. It also allows us to access the care she needs and gives her therapists guidance on which avenues they take to best support her.”

Cheyenne has opened up about her journey with Edenon TikTok, where she’s also building a community with moms who have been through similar situations.

“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,” she continues. “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.”

TikTok has also pointed Cheyenne to some helpful resources, likeSimon’s Searchlightand Unique throughrarechromo.org.

“I’ve connected with other parents of children with the same deletion syndrome and it’s given them a voice to share their stories while giving me information on what our trajectory may be,” she says. “We didn’t get these resources from our doctors or insurance — we got them through TikTok! It’s amazing.”

Cheyenne is hopeful other parents who have gut feelings like hers will continue fighting for their kids and “not be afraid of what others say or think.”

“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,” she shares.

“Additionally, 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.”

Today, Eden is 16 months old and enjoying fun milestones that the family appreciates now more than ever, as they continue close and careful monitoring.

source: people.com