Ingrid and Amelia on tummy

#AmazingIs Stories, Mighty Blog

Baby Ingrid isn’t slowed down after rare genetic diabetes diagnosis

ltp_2017_0003In the winter of 2015, Mary and Jon Willink welcomed twin daughters into the world. Born in St. Paul, Minnesota 7 weeks premature Ingrid weighed 3 pounds, 15.5 ounces, and her sister Amelia was 3 pounds, 15 ounces.

The girls were immediately brought to Children’s Minnesota Neonatal Intensive Care Unit (NICU) for observation. While the girls were identical twins, their care team quickly noticed that Ingrid’s tongue was enlarged, a condition called macroglossia. The girls also showed some facial and physical differences, very rare in identical twins, prompting their clinical care team to request a consultation with the geneticist, among other specialists.

Because Ingrid presented with macroglossia, her blood sugar levels also were tested on the same day she was born. The results showed blood sugar levels at more than 200 and even 300 mg/dL, which is three to five times the normal level for a newborn. The day after her birth, doctors started Ingrid on insulin and began performing additional genetic tests.

ltp_2017_0038Under the observation and testing of a coordinated care team that extended from NICU and genomic medicine to diabetes and endocrinology specialists, and at just four days old, Ingrid was diagnosed with transient neonatal diabetes – an extremely rare, genetic form of diabetes that typically goes away. Typically transient neonatal diabetes is caused by a unique genetic change where an individual inherits two copies of chromosome 6 from his or her dad, rather than one copy from his or her mom and the second from his or her dad. For Ingrid, she was found to be mosaic for this change, meaning that in some cells she has a copy of chromosome 6 from both parents, but in 30 percent to 35 percent of her cells, she has two copies from her father only. This particular type of Transient Neonatal Diabetes has never been described before. Her sister, Amelia, had a normal chromosomal makeup and therefore didn’t have diabetes and its related symptoms.

Due to Ingrid’s type of diabetes combined with her small size, the dosing and the dispensing of insulin was difficult. Using a syringe to administer dilute insulin, providers were able to dose accurately only to one tenth of a unit, which frequently was too much and caused low blood sugars. After a couple of weeks, it became apparent that an insulin pump would be the most consistent way to distribute the very small amounts of diluted insulin; this gave her coordinated care team and parents readings steady enough to establish a baseline and move forward with her care and transition to home.

ltp_2017_0008Having a team that communicated across departments, including NICU, genomic medicine and endocrinology, allowed Mary and Jon to learn about diabetes and establish a treatment schedule at home.

“This type of undertaking is very tricky for new parents and diabetic novices like us,” said Mary Willink. “Ultimately, Ingrid benefited greatly from her coordinated care team conveying the very basics, but with scientific accuracy, to me and her father, so we could feel confident taking care of her at home and know when we needed to seek medical help.”

Hands-on training when starting Ingrid on the pump gave her parents the confidence they needed to embrace a routine of scheduled blood sugar monitoring, insulin delivery and feeding every three to four hours. Her parents used a glucometer, a special tool to measure blood sugar levels, to track Ingrid’s progress. Based on the measured blood sugar levels, they would anticipate how hungry Ingrid was and enter how many calories they anticipated Ingrid would consume during the next feeding. This allowed the pump to calculate how much insulin to administer. Thankfully, Ingrid had a good appetite and predictable feedings helped her parents administer insulin doses through the pump more accurately. She was discharged from Children’s at four weeks.

ltp_2017_0031Ingrid’s progress continued after her discharge, and over the next few months her blood sugar levels became consistently within range as her parents closely monitored and delivered her medications at home. Within two follow-up appointments her parents were able to decrease her doses and ultimately, at just shy of seven months old, she was taken off the pump and her blood sugar levels became normal.

Because of the coordinated care team of specialists at Children’s Minnesota, quickly finding the underlying cause of Ingrid’s symptoms enabled her to receive prompt care and treatment. Today Ingrid is a healthy 13-month-old. She no longer has high blood sugars but will check in with endocrinology as she gets older. Her unique genetic condition means she has a higher chance of having high blood sugars/needing insulin later in life, especially during serious illnesses and pregnancy. However, her outlook is bright and nothing can hold her back – particularly as she becomes more confident with walking!



Rachel Patterson