A life-changing diagnosis
Conner’s rare disease brought his family to Children’s Mercy ... in more ways than one!
Meet Conner
Less than five years ago, Kirsten, a Parent Support Program Coordinator at Children's Mercy Kansas City, was living in Canada with her husband, Craig, and their three sons, and working as an emergency department nurse. A life-threatening diagnosis for her youngest son, Conner, changed everything. Today, she has a new job, a new country and a new calling.
In June 2020, when Conner was 4, he was diagnosed with cerebral adrenoleukodystrophy (CALD). Mutations in the ABCD1 gene made it hard for Conner’s body to break down very long chain fatty acids (VLCFAs). Instead, VLCFAs were building up in his brain and starting to cause damaging lesions.
CALD is the most severe form of adrenoleukodystrophy (ALD). About 1 in every 21,000 boys develop CALD in childhood (35 to 40% of boys with the ABCD1 mutation). Genetic testing can’t predict who will develop CALD, only reveal the ABCD1 mutation. Screening newborns for high VLCFA levels can indicate ALD, and MRIs can detect CALD in its early stages.
“It's very aggressive,” explained Kirsten. “Boys who don't make it to treatment lose their sight, their ability to speak, hear, walk, talk and communicate until they fall into a vegetative state.” Untreated patients with CALD usually only live several years after the onset of symptoms. But if CALD is diagnosed early enough, it can be treated with a stem cell transplant or gene therapy.
A race to treatment
Conner first presented with severe adrenal insufficiency symptoms in early 2020, and genetic testing confirmed he had the ABCD1 gene mutation. His family wanted to know if he had CALD, but wait times for MRIs at their Canadian hospital were at least eight weeks.
“My son may have something in his brain that’s killing him,” Kirsten said to their doctors. “We cannot wait eight weeks.” They needed an MRI as soon as possible, and they needed an expert to score the MRI to tell them if there was still time for a life-saving transplant.
Instead of waiting, they contacted a children’s hospital in Minnesota with experience treating CALD. They applied to their Canadian health care system for out-of-country coverage but were denied. “With CALD, time is brain,” said Kirsten. “So we sold everything and moved to Minneapolis.”
Conner was able to have a donated cord blood transplant quickly, and the family lived in a small apartment across from the hospital for six months during the height of the early pandemic. When Conner was stable, they moved back to Canada, only to learn Craig would need to transfer to keep his job. His company gave him three destination options. The family chose Overland Park, Kan., and moved in July 2021, transferring Conner’s care to Children’s Mercy.
“We came to Children’s Mercy, and they have been spectacular,” said Kirsten. “When you have a child with a rare condition that’s really hard to treat, developing a medical team is really important.”
A new home at Children’s Mercy...
Conner’s transplant was successful, and his disease severity rating and MRIs remained unchanged afterward. Because of the lesions that developed on his brain and corpus callosum before the transplant, he has some fine motor challenges and auditory and visual processing issues. He also has a congenital heart condition, a vascular ring, that Children’s Mercy will continue to monitor.
Conner is currently seen by the Cardiology; Hematology, Oncology and Blood and Marrow Transplantation; Neurology; Endocrinology; Occupational Therapy; Physical Therapy and Survive and Thrive teams.
“His disease has been halted,” said Kirsten. “It’s unclear as to whether he may develop symptoms later in life, but there’s a lot of really amazing clinical trials taking place right now, so we’re hopeful he’ll have good options available.”
Another reason Children’s Mercy was a great fit for the family: The Children’s Mercy Research Institute is helping advance leukodystrophy research through a study using long-read genome sequencing to increase the diagnostic rate. The research is supported by a nearly $3.1 million grant by the National Institutes of Health's Eunice Kennedy Shriver National Institute of Child and Health and Human Development and in cooperation with the University of Utah and the Research Institute of the McGill University Health Centre in Montreal, Canada. More accurate diagnostic tools could help more kids like Conner get the treatment they need faster.
...in more ways than one
After their family settled into life in the U.S., Kirsten began thinking about work again.
“Craig kept saying to me, ‘Why don’t you apply to a whole bunch of places?’” remembered Kirsten. “And I said no: Children’s Mercy is where I want to be.” When a Parent Support Program position in the Kreamer Resource Center for Families came up, Kirsten jumped at the chance.
“I find it so rewarding to work with parents when they’re struggling and to be there to support them,” said Kirsten. “It’s OK to have these feelings. It’s OK to take care of yourself. It’s OK to ask for help.”
The Kreamer Resource Center offers a wide variety of family supports, but the most valuable resource might be the opportunity to simply talk with someone who “gets it.”
“We have really caring, compassionate people who are there to be a listening ear and to show compassion and empathy,” said Melissa, Certified Child Life Specialist, Assistant Director, Patient and Family Support Programs.
Kirsten spends time with parents and caregivers and connects them with the resources they need to take care of themselves and support their children.
“Accessing the support and resources and information is usually harder when it's a rare condition, which often leaves the family feeling isolated and unsure of where to go,” said Melissa. “Knowing Kirsten has been in a similar spot, I see parents picking up on that and feeling comfortable to open up and share their experiences and feelings.”
“If you are the parent of a medically complex child, there is a silent understanding,” Kirsten confirmed. “You can see their stress level dissipate because they know you’ve been there and that these supports are available to them.”
Kirsten’s passion for helping others facing complex diagnoses extends outside the hospital, too. Alongside two other Children’s Mercy families, she successfully lobbied Kansas and Missouri to add X-Linked Adrenoleukodystrophy to their newborn screening programs. “I’m still trying to advocate back in Canada and not having much luck, but I’m not giving up,” said Kirsten.
Kirsten’s advice to any families who are dealing with a new diagnosis is to seek out other parents who have gone before you, put a plan of action in place so you know what to focus on and prioritize self-care.
“You’ll be stronger for it,” said Kirsten.