Diagnosing Kagami-Ogata syndrome (KOS): Luna’s Story
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Luna, 4, discovered Spotify playlists — and her love for one called “Disco Decadence” — at an early age. As her unique taste in music might suggest, Luna is everything you would expect from a sassy little girl. She's specific about her hair and the clothes she wears (Sesame Street preferred) and sees to it that she gets her way. But unlike the crazy outfits she picks out for herself, Luna had no say in the condition she was born with.
A medical mystery
At her 20-week anatomy scan, doctors discovered that Luna had full body edema and an enlarged liver and spleen, among other anomalies. It was then that her mom, Cassie, was given the worst-case scenario: “They were urging us to terminate the pregnancy. They told us Luna would probably not make it and not survive until term. If she did, she might not survive the delivery. If she survives delivery, she wouldn't make it very long after that. I felt I could never relax. Any sort of milestone we got to, I was just waiting for something horrible to happen.” What no one saw coming, however, was Luna’s physical appearance at birth.
She had a bell-shaped rib cage — narrow at the top and wider at the bottom — which is associated with a few different conditions with some unfavorable outcomes.
Luna had genetic testing done at a hospital in Pittsburgh, but the results didn’t reveal anything. With no clear cause, her whole medical team was left stumped. The mystery went unsolved.
Right place, right time
When Luna was about 9 or 10 months old, Cassie went to work at her healthcare consulting job like any other day. And it’s a good thing she did. Little did she know that an advocate would come from Children’s Hospital of Philadelphia with just the solution to her problem — the Undiagnosed Disease Program.
Had she not gone into work that day, it’s possible she would not have found out about the program — or a diagnosis for Luna — until much later, if at all. In Cassie’s eyes, this coincidence was nothing short of a “divine intervention,” as she calls it. She knew she could not let this golden opportunity pass her by and was determined to get Luna accepted.
By the time Luna was 2, she was able to walk on her own, making the visit to CHOP in summer 2021 that much easier. Upon their arrival, Luna and her parents met with a team of physicians consisting of a geneticist, a neurologist, an immunologist, an orthopedic surgeon and two genetic counselors. Together, they reevaluated Luna and sent her parents home hopeful that they were one step closer to finding an answer to their most burning question.
At the same time, Cassie, who was conflicted about having another child, had many mixed emotions: “What if we find out there's a chance our future child could inherit it? Then again, we could test the embryo, so that would be such a blessing.”
Against all odds
Fast forward to December of that year, Cassie is now anxiously awaiting a phone call from nurse coordinator, Kelly Hassey. With the holiday season fast approaching, she could hardly wait any longer. As it would turn out, no news was indeed good news. Cassie couldn’t believe what she was hearing: Luna finally had a diagnosis, and it wasn’t a bad one.
While the condition itself is rare, Kagami-Ogata syndrome (KOS) generally has a positive prognosis. Whereas “none of the local doctors had even heard of Kagami-Ogata syndrome," according to Cassie, CHOP’s Undiagnosed Disease Program was created for the sole purpose of diagnosing rare diseases like KOS and many others.
“Diagnosis is often the path towards optimized treatment,” Kathleen E. Sullivan, MD, PhD, the Program’s Medical Director (and Luna’s immunologist), explains. “The multidisciplinary team maximizes technology and old-fashioned know-how to find the answers for our patients.”
Beyond genetic testing, CHOP used statistics and stopped at nothing to get Luna diagnosed. Rather than being inherited from her parents, Luna’s genetic disorder was caused by a spontaneous mutation that occurred just in her, making her case even rarer. But like one string of DNA out of many, “Luna is so much more than her diagnosis,” Cassie remarks. “She's a whole person and her Kagami-Ogata is one tiny part of her.”
Case closed
These days, Luna is busy making the most of life. Having come back from summer camp, Luna has been accepted into a school for kids with severe speech delays and is now learning to talk. Now that her schedule has been freed up from constant trips to the hospital, Luna’s parents are also enjoying their newfound freedom and making up for lost time.
Reflecting on the whole experience, Cassie says, “The biggest blessings coming out of it were being able to reduce the number of doctor's visits and plan for more kids. We just had a baby in May. I would have been terrified if we didn't know what Luna had.”
When Cassie found the Undiagnosed Disease Program, she knew she had found Luna a medical home. Now that Luna’s diagnostic journey has come to an end, her lifelong journey has begun. With the birth of her sister, Remy, Luna will have one more person in her corner to accompany her through it.
“I wish I would have gotten a second opinion sooner. If I could talk to my past self, I would tell her to reach out to CHOP or a different children's hospital even during my pregnancy. Maybe we would have found the Undiagnosed Disease Program or a diagnosis quicker, or maybe we would have found clinicians who were able to provide more than a worst-case scenario. Luna’s diagnosis brought hope for a bright future for my family.” —Cassie Holt