Kamerie’s 18p Deletion Journey

By Danielle, Kamerie’s mother

 My daughter Kamerie was born weighing 1lb 5 oz at 28 weeks gestation. She was so small that she wore Build-A-Bear clothes up until she was 6 months old. 

A high-risk and challenging pregnancy 

Before Kamerie made her entrance into the world on August 24th, 2022, I was admitted on hospital bedrest due to Kamerie not growing in utero. I was already considered high risk due to my age and multiple previous miscarriages. Additionally, Kamerie was diagnosed with Intrauterine growth restriction (IUGR), which occurs when a baby is poorly growing in the womb. The medical professionals highly encouraged me to get an amniocentesis, a prenatal procedure that removes and tests a sample of amniotic fluid. However, with my history of miscarriages, I found out that amniocentesis could kill Kamerie. For that reason, my husband and I decided not to go through with it, despite multiple conversations. 

After being in the hospital on bed rest for 2 weeks, there was no substantial growth per the anatomy scans. This was very difficult, as I also have an older daughter, Emerie, who was only 3 years old at the time. 

A long, 384-day stay at Dolly Parton Children’s Hospital

My OB decided it was time for Kamerie to be delivered through stat C-section due to her heart rate dropping and her slow growth. Once she was born, the neonatal intensive care unit (NICU) staff was on site to resuscitate her. 

Kamerie spent 384 days at Dolly Parton Children’s Hospital before being able to finally come home. During that 384-day stay, Kamerie was still not growing, despite receiving lots of extra calories with my breast milk and formula.

After 3 months of being in the NICU, Kamerie was considered full term and weighed 3lbs 15.3 oz. Genetics was finally called in due to her poor growth. One of the nurses thought she may have had some form of dwarfism. However, blood work revealed that Kamerie had 18p deletion syndrome, meaning that she was missing half of her 18th chromosome. This was a diagnosis that the hospital and staff at the NICU had never seen. Lucky us!

Receiving a rare genetic diagnosis

Once we got that diagnosis, everyone, including my husband and I, understood why she was growing at such a slow pace. At the age of 1, Kamerie was wearing 3-6 months clothes. At 4 years old, Kamerie now weighs 23 lbs and is 34.25 inches long, wearing a size 5 toddler shoe. 

With this rare genetic syndrome, several other diagnoses come along. For example, Kamerie was also diagnosed with chronic lung disease. She came home on a ventilator and trach, and was on that until March 2026. To this date, she still has a g-tube and is in all the therapies: PT, speech, feeding, and OT. 

Kamerie is currently not in school or at a daycare. She is not talking, but makes lots of sounds and uses an AAC device to communicate. She is learning to walk and do lots of fine motor skills, such as holding a crayon and playing pretend. She’s also seeing her older sister Emerie do things that she is striving to do someday.

Kamerie is supposed to start growth hormones in the spring of 2027. I hope this story resonates with you and to be able to connect with other families with this same diagnosis.