This First-Time Mom’s Instinct About Her 'Floppy' Baby Led to a Diagnosis So Rare That Roughly Only 50 Cases in the World Exist

From the moment Melissa Loretto, 40, and her husband Paul began going into labor, they knew something was off. What was supposed to be a joyful, albeit painful experience, was laced with confusion and stress. The couple had sold their condo on Monday and were set to move into their new home on Wednesday, but went into labor on Tuesday—about five weeks too early—with their son, Troy.

“I had complications during and after delivery and was confused during the immediate postpartum period,” explains Melissa. “We were under the impression he would just be in the neonatal intensive care unit (NICU) for a few days, and then we’d go home, but he stayed for five weeks because there were ongoing concerns about his oxygen levels. He was going on and off supplemental oxygen, and they couldn’t figure out what was going on with his lungs. I realized something was abnormal even for a premature baby when he kept failing his car seat test and couldn’t go home.”

In order to pass a car seat test, a baby must be able to maintain their blood oxygen levels in the car seat for a certain amount of time. Even though he was past his expected NICU due date, he just could not pass that test. The family ended up having to take him home in a car bed, an hour away from the hospital, to their new home. This moment stuck out to Melissa as one of the first indicators that something was more wrong than even doctors had yet realized. But it was the total uncertainty that made it so hard to deal with.

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The Early Days

Being a first-time mom is a hard experience, even when everything is going by the book. But for a first-time mom who suspects there is something medically wrong with her little one, the road ahead is long and winding. Melissa said that little signs of Troy’s rare genetic condition, like milk dribbling from his mouth, could easily be written off, but her mother’s intuition told her to keep searching for answers.

“In the early days, we were getting all these tests done, but getting a lot of normal results. We were told, ‘he’s just floppy,'” she recalls. “We were combing the internet to try to figure out what it might be, thinking it’s something that hasn’t been discovered yet.”

At two months old, the parents brought Troy to see a physical therapist, Lauren Johnson, PT, DPT, an APTA spokesperson and owner of Together We Grow Pediatric PT. It turned out to be the soft place Melissa needed to land.

“I can barely remember anything from that time. It’s a blur. I have blocked it out. It was so awful. We were going from specialist to specialist,” Melissa admits.

Regardless, Lauren was intent on looking at the whole picture to come to a conclusion.

“I get concerned for possible genetic disorders when there are clusters of signs, like in Troy’s case, including atypical muscle tone, delayed motor development, and problems with one of his eyes,” Lauren tells Parade. “He had difficulties with constipation and reflux, and challenges with nursing and bottle feeding. He also frequently arched his back, but not in a pattern linked with his digestive symptoms.”

Melissa said Lauren conducted many different tests on Troy since the day of his early intervention evaluation, including the Test of Infant Motor Performance, the General Movements Assessment, and the Hammersmith Infant Neurological Examination.

“Between her test scores and our gut feeling that things were off, she helped us find a proactive pediatrician and got us connected with an ‘Early Detection Clinic’ at a local children’s hospital,” Melissa recalls. “The new pediatrician made lots of specialist referrals, and by the time Troy was 10 months old, he had a diagnosis. In fact, we got the call with the genetic results during one of his physical therapy sessions. Troy was diagnosed with microphthalmia, syndromic 12 (MCOPS).”

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The Diagnosis That Changed Everything

MCOPS is an extremely rare disease caused by mutations in the RARB gene. There are roughly only 50–100 known cases worldwide, so getting a diagnosis for him took a lot of advocacy.

“It’s never too early to seek support, and early intervention can help reduce or even prevent developmental delays,” says Lauren. “At the same time, it’s important for parents to remember every child develops at their own pace, and a delay does not necessarily indicate a serious problem.”

It’s also important to know that not every case presents with the same exact symptoms. Lauren says seeking physical therapy for your child is important if you notice any of the following signs:

Infant Mobility Signs

• Decreased movement on one side of the body compared to the other
• Excessive stiffness or floppiness
• Issues with swallowing and sucking
• Frequent arching of the back

Older Infant Concerns

• Limited variety of movement
• Reduced interest in exploring movement
• Strong preference for using one side of the body
• Crawling with a “bunny hopping” pattern (difficulty with alternating leg movements)
• Major delays in milestones, such as sitting up and crawling (for example, sitting independently at 10 months instead of the typical 6 months)

MCOPS also presents issues with muscle tone, severe eye abnormalities, constipation, and potential cognitive impacts. Troy, who is now four years old, doesn’t present with all of these issues himself. While he has one eye with a cataract and poor vision, along with issues with motor skills, cognitively, he is in a great place.

“Troy is a smart kid,” Melissa proudly states. “He is hyperlexic and has the ability to read. He will be in a regular kindergarten classroom in the fall. Initially, both we and Troy’s early intervention providers were concerned there might be some cognitive impacts in addition to motor challenges; fortunately, it seems any cognitive issues stem from his lack of experience rather than a cognitive deficit. For example, he is still catching up on social skills because he didn’t begin speaking until he was four.”

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What Life Will Be Like for Troy

Unfortunately, there isn’t one specific, simple treatment for people living with MCOPS.

“There’s not another kid with MCOPS who has his exact mutation, so it’s hard to predict what the future holds,” says Melissa.

Of course, there are no guarantees for Troy and no crystal ball to peer into, but for Melissa, Paul, and Lauren, there is a lot to celebrate now with his progress. Troy has a variety of specialist physicians and has many therapies and special support at school. He even has home-based physical, occupational, and speech therapy once per week, plus myofunctional therapy every other week. At the end of the day, he’s a pretty exhausted kid—but a vivacious child nevertheless.

“Troy is a very happy kid who can get around easily using his walker,” shares Melissa. “He climbs up and down stairs without any help. He talks all day long. He loves his dogs, Astro and Mulan, and loves cars. He wants to be a ‘doctor nurse’ when he grows up, taking care of animals or people. He attends preschool and will start kindergarten in the fall in a general education classroom with other kids in our neighborhood. Now that he’s talking, he has formed some adorable friendships.”

The main takeaway from Troy’s story is that being your own or your child’s advocate is essential.

“Use your community,” advises Melissa to parents who may find themselves in a similar situation. “Don’t be afraid to speak up if you feel something is wrong, and follow that intuition. Meet other people—virtually or in person—who are going through something similar. And don’t be afraid to get out there in the real world with your child, even if they look or move differently. I was very involved with Fit for Mom and met a lot of other moms whose children were undergoing medical challenges, and that was such a comfort to me.”