“Ready? Give him a kiss! You got him!” Lillian’s mom Lindsey said.
This was her first time in clinic for a checkup since having a sleep study done. And her family was hopeful to find some answers. Mr. Moose included.
Lillian had an echocardiogram done after a sleep study came back showing that she needed some help at home for sleeping–one symptom of KCNMA1 mutation, a newly discovered and very rare syndrome.
She also was in for an ultrasound, EKG, oxygen reading and blood pressure check at a recent doctor’s visit.
“She has so many specialists working with her,” Lindsey said. “She goes to PT, OT and speech therapy twice a week. She also has in-home and primary care as needed.”
She was first diagnosed with Liang-Wang syndrome in the NICU at Corewell Health’s Helen DeVos Children’s Hospital at just one month old. Doctors said there were only about 50 cases worldwide, and Lillian is the only child in Michigan with the condition.
A series of genetic tests brought about the diagnosis, and initially answered a few questions for the family. Doctors told her family they had not seen any other child in their many years of practice with this diagnosis.
“We had to get genetic testing done very early,” Lindsey said. “And I’m glad we did.”
Doctors sent out a series of genetic testing, and it came back with a KCNMA1 mutation which causes Liang-Wang syndrome.
“We knew nothing about this disorder. But shockingly enough, Netflix had a series called Diagnosis. And on the fourth episode another little girl has the same diagnosis,” Lindsey said.
“We watched the series, and it was bittersweet. Every kid is so different. Some can be very serious and some very mild.”
‘An ultra-rare condition’
Caleb Bupp, MD, division chief for genetics at Corewell Health, had never heard about this condition. So he did his research.
“This is an ultra-rare condition,” he said. “When we have kids who are born with rare things, we do our best to figure out what it is.”
“Everybody’s issues seem so different with this condition,” Lindsey said. “So it’s helpful to have the support groups online, but it doesn’t always tell you what your child is going to do or not do.”
Dr. Bupp said that the evolution in rapid, broad, genetic testing really has helped a lot, especially in difficult diagnoses like this one.
Lillian underwent rapid whole-exome sequencing.
“You can only know so much without testing,” he said. “These tests find things that you would never have expected.”
Team Lillian
With Lillian’s genomic variant, heart issues can also be a problem.
She suffers from mild aortic root dilation and a moderately dilated ascending aorta and sees the pediatric cardiology team at Corewell Health’s Helen DeVos Children’s Hospital.
She also required surgery on her ear tubes and adenoids. A team of physicians at Corewell Health repeated several hearing tests and completed a tonsillectomy and adenoidectomy.
“This is not just about Lillian, it’s about every kid,” Lindsey said. “Any family who must go through something rare like this. I believe there are a lot more children out there with it.”
She said it’s a matter of access to genetic testing and that many kids might be living with it and have no idea.
Lilian also sees pediatric ophthalmology, speech, occupational therapy, physical therapy, ENT, audiology, pulmonology, palliative care, neurodevelopment, gastroenterology and urology.
A speech therapist works with her on eating solid foods and she will likely see orthopedics at some point too.
“She has quite the team here,” Lindsey said.
Another thing the family gathered from the support groups was seizures are common.
“She hasn’t had any yet to my knowledge,” Lindsey said. “We had an EEG done and it didn’t show any either. When we first got the diagnosis, we heard fifty percent of cases have seizures or fifty percent have uncontrolled body movements.”
Her family is plugged into the syndrome community and is talking with other families who have children with the same syndrome.
“I have been researching some of these issues and it gets very scary to read about life expectancy,” Lindsey said. “I’m always prepared for the worst.
“I’m just trying to make sense of it all.”
https://healthbeat.corewellhealth.org/one-in-a-million/?fbclid=IwAR2XKXbNBrAHf5B5EgIGINGf4rWmGMnwgucNOXKd3UV_JnHjHf--WyJLsZs
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