‘22q made our family stronger:’ Lila’s journey with 22q Deletion Syndrome

When Lila was just 10 days old, a positive test result from a newborn screening for an immunodeficiency disorder sent her and her parents Samantha and Philip to Lurie Children’s for further testing.

While baby Lila did not end up having the rare and serious condition her pediatrician suspected, genetic testing revealed the baby was missing part of her 22nd chromosome. Lila was diagnosed with genetic a condition called 22q11.2 Deletion Syndrome.

The syndrome can be difficult to diagnose because it affects each patient differently. Sometimes a baby may be suspected to have this condition when he or she is born with congenital heart disease or other abnormality. Other times, like Lila, babies are diagnosed with this condition after an abnormal newborn screen suggests a possible immunodeficiency. Older children and adults may be diagnosed later in life due to more mild features of this condition, or parents may discover they have this when it is found in a more seriously affected child.

“We had never heard of this before,” Samantha recalls. “I remember hanging up the phone — my mind in overdrive — and as scared as I was, I also felt like a puzzle piece had clicked into place.”

Baby Lila hadn’t been gaining weight, spit up through her nose constantly and had feeding and swallowing issues, all common symptoms of the disorder, along with heart defects, complications with speech and loss of hearing.

“Little concerns here and there were suddenly making sense,” Samantha said.

Fortunately, Lurie Children’s is home to a multidisciplinary team of specialists in the care and management for children with 22q.

Patients at Lurie Children’s see providers from across multiple specialties all in one day. The program links the experience and expertise from several pediatric subspecialty areas including immunology, otolaryngology (Ear, Nose & Throat Surgery - ENT), speech & language pathology, audiology, genetics and social work.

About a week after Lila’s diagnosis, the family secured an appointment with the 22q team. That day, the family saw many specialists, and a swallow study revealed she had oral dysphagia (difficulty swallowing) and so the little girl received a nasogastric (NG) tube and feeding pump to help get the nutrition she needed. The team at Lurie Children’s put Lila on the right track and managed all of her care expertly, Samantha said.

Indeed, Lila’s first year of life was full of many appointments and procedures, Samantha said, but as she grew and got stronger, the family, from a small central Illinois village, visited the hospital less and less.

Today, Lila, 3, visits the 22q team once a year and sees other specialists about five times a year. She was able to have her gastrostomy tube removed in July and is able to eat on her own. She has weekly aquatic therapy for occupational and physical therapy, and speech therapy three times a week.

Samantha and Philip marvel at their little girl’s progress, and her easygoing, sunny personality. She loves to color, take walks, play pretend with her kitchen set and spend time with her beloved older brother and sister.

“You will be amazed at how awesome your child is. Watching their progress as they grow is inspiring. 22q made our family stronger and helped my older children to recognize that everyone is unique,” Samantha said, adding that she is thankful for expertise and compassionate care close to home.

“The 22q Clinic at Lurie Children’s has been absolutely wonderful for Lila and our family.”

Samantha says families with a 22q diagnosis may find and help and support from the 22q Family Foundation, a nonprofit that connects and supports families with the condition. Click here for more information.

For more information about the Lurie Children’s 22q11.2 Deletion Syndrome Clinic, click here.