2022 Honored Patient: ELOISE
Sometimes the saying “it runs in the family” can be a good thing, and sometimes not so much. In the case of 2022 Honored Patient Eloise and her parents Ian and Kelly, from Fargo, N.D., being diagnosed with the Dicer-1 gene mutation was one trait the family could have lived without.
Eloise’s family had been prepared for such a diagnosis. Due to family history on Ian’s side as his sister and nephew also have the Dicer-1 gene mutation, many of the Costellos, including Ian, participated in a research study five years ago at the National Institute of Health in Bethesda, Md., to understand the likelihood of his children inheriting the gene. At that time, Kelly was 8 weeks along in her pregnancy with Eloise.
Eloise was born symptom free, but knowing the family history, Ian and Kelly had Eloise tested immediately. Unfortunately, the test results showed she did indeed inherit her father’s gene mutation.
“We were not surprised as her odds were the same as the flip of a coin,” Ian said. “Of course, we were concerned, but we had direct connections with Children’s Minnesota and the National Institute of Health which had already prepared us if indeed she tested positive for the mutation.”
Hoping to carry out her care in Fargo, they quickly learned that Eloise’s pediatrician and genetic specialist there were unfamiliar with the Dicer-1 mutation. Having other family members go through treatment at Children’s Minnesota, they started making the trek down I-94 to Minneapolis every 3-6 months.
The Dicer-1 gene mutation is known to cause tumors in the lungs, kidneys, ovaries, thyroid and brain. Over time, most of these tumors become Type 1 Pleuropulmonary Blastoma or PPB. Eloise started doing lung CTs and ultrasounds to the ovaries and kidneys every 6 months at Children’s Minnesota. Initially, two cysts were found in her lungs, so they accelerated her scans to every 3 months. Two more cysts were then found and the family discussed whether they should do surgery to remove the cysts. Due to her young age, and the good possibility that more cysts would form according to previous research findings, they decided to hold off on surgery. Thankfully, Eloise’s last scans in June of 2022 showed no growth in those four cysts.
For the most part, her treatment journey has been linear to the other members of her family. However, Eloise has experienced many physical challenges along the way. She has a gross motor delay, requiring her to wear ankle orthotics and do physical therapy. She also has had ups and down with asthma-like respiratory symptoms that make them watch her more closely. Still unsure if these are related to the Dicer-1 gene or not, they make Ian and Kelly think twice about what path they should take and whether they should pursue surgery.
With many other brave family members going through a similar journey already, the Costellos have a great support system in place and know the importance of the research being conducted at Children’s Minnesota, believing that “knowledge is power.” They also know how lucky they are to have Dr. Kris Ann Schultz, the Pine Tree Apple Tennis Classic Endowed Chair in Cancer and Blood Disorders Research and one of the world’s leading doctors in PPB and Dicer-1 cancer cases, overseeing their medical care.
“From talking us through the early stages of the diagnosis at 11 p.m. as she was on vacation with her own young family to taking our questions throughout the last 4 years, Dr. Schultz has been the rock for our family,” Ian said.
Eloise just completed her first year of preschool and is very excited for the fall when she starts Pre-K five days a week. She loves princesses, learning, swinging and knows the words to every song. She also wants to be an artist when she grows up saying, “So I can teach people how to paint and they will love it!” She is also a great big sister to her younger sibling, Gradynn (2).
With so much uncertainty facing their oldest daughter, you would think Eloise would live with a constant cloud hanging over her head, but actually, it is quite the opposite.
“Eloise’s eyes and smile say it all,” Ian said. “She lives life with a sparkle and exudes joy. She is observant, smart, creative and emotionally intelligent. From the start, she has shown kindness and empathy to those around her. She cannot yet understand the purpose of all of these trips to Children’s Minnesota, getting pictures of ‘her tummy’ and that some people grow extra “bumps” in their bodies and some do not, but these trips are also time spent with family.”
This backpack is the one she wore during her first scans at Children's Minnesota and for her first day of pre-school.