'Hope for the future': Family of boy with rare disorder raising funds for Malan Syndrome Foundation
At 9 months old, Noah Ivelic's parents started to notice he was falling behind in his milestones.
Their pediatrician at the time didn't seem concerned, but Nicole and Zeljko Ivelic, who live in Carpentersville, instinctively knew something wasn't right with their baby.
So they got a second opinion.
In May 2021, that new doctor recommended an evaluation, and Noah was referred to Lurie Children's Hospital in Chicago for genetic testing. While waiting for those results, Noah, who is now 3, was evaluated by Early Intervention and diagnosed with a "global delay." With this diagnosis, he could start therapeutic services.
"The week of Thanksgiving in 2021, our family received the news that Noah had Malan Syndrome. Our family was devastated by the news, but we were able to find the support and resources Noah needed to thrive," said Noah's uncle, Kyle Tourtellott, in an email.
First identified in 2010, Malan Syndrome is caused by a change in the NFIX gene, which plays a role in brain and muscle development, as well as skeletogenesis.
According to the foundation's website, malansyndrome.org, the clinical features of Malan Syndrome may include: stereotypical craniofacial features such as tall forehead, long or triangular face, deeply set eyes, down-slanting eyes, low set ears, small mouth; intellectual disability; large head circumference; low muscle tone; vision and hearing impairments; speech delay/inability to speak; gross and fine motor skills delays; enlarged aorta; structural abnormalities in the brain; skeletal anomalies such as advanced bone age, scoliosis, sternum malformations and more.
Tourtellott said the Malan Syndrome Foundation was able to host its first Family and Scientific Conference in North Carolina this past July. There, Malan children were represented by six different countries, along with their families and the scientific community.
"They were able to come together to learn, grow, and spread hope for the future," Tourtellott said.
Right now, there are only a small number of kids diagnosed with Malan Syndrome, but more genetic testing may make it more prevalent.
To help raise funds to advance that testing and offer support programs globally, the foundation is hosting The Malan Syndrome Foundation's Run, Walk and Roll Virtual 5K now through Sept. 3.
The Ivelic family and their friends are also participating with their team name Noah's Garden of Hope.
"This is the second annual virtual 5K, and it has groups and people from all over the world participating," Tourtellott said in the email.
The family's goal is to raise $50,000 for the foundation. To help them reach it, sign up at runsignup.com/noahsgardenofhope and donate directly to the team, or visit malansyndrome.org.
"Noah is a happy, social kid who loves to be with others. He loves the outdoors, water play, and being read to," Tourtellott said. "He has come very far in his therapeutic services, and has grown significantly in this last year. We will continue to support him in his journey, and raise funds and awareness for the Malan community."
Tourtellott shares more information about Malan Syndrome, the foundation and the upcoming virtual walk.
Q: What is the Malan Syndrome Foundation? Give a brief overview of what the organization does and who they serve.
A: The mission of the Malan Syndrome Foundation is to improve the lives of individuals and families affected by Malan Syndrome in the global community through support, outreach, and research.
The Malan Syndrome Foundation's mission is to provide a broad network of support to families affected by Malan Syndrome and help advance access to a diagnosis. They help promote knowledge, development, awareness, and sharing of information.
They explore research pathways to treatments and cures, as well as enhance the understanding of Malan Syndrome and disorders.
Q: How many people per year do they serve?
A: As of January 2022, there have been 200 individuals worldwide with a genetically confirmed case of Malan Syndrome. The number is likely to increase as genetic testing becomes more widely available.
Q: What are some of the programs that help people with this syndrome?
A: The foundation has created a Parent Support Group through a secured WhatsApp group. This allows parents or caregivers of confirmed Malan Syndrome family members to be able to connect globally.
Through partnership with their medical and scientific advisory board, the foundation has created a brochure for families to provide their personal professional medical team with common medical concerns with this diagnosis.
The foundation has created the RARE CARES Program, which helps bring comfort to children and adults with Malan Syndrome who are hospitalized or undergo a medical procedure that requires a significant recovery time or recovering from an injury at home.
Q: Tell us about the upcoming 5K to support the foundation?
A: The Malan Syndrome Foundation's Run, Walk and Roll Virtual 5K kicked off Aug. 19, which is Malan Syndrome Awareness Day. This is their biggest fundraiser of the year.
This virtual 5K will run through Sept. 3 anywhere in the world, and all donations will go directly to research that will improve the understanding of Malan Syndrome and accelerate treatments for children affected.
The foundation is currently raising funds to support bio-repository, development and characterization of disease models, and drug repurposing.
Q: How can people participate?
A: Anyone who would like to donate to this amazing event and help reach our goal of $50,000 can sign up at runsignup.com/noahsgardenofhope and donate directly to our team. The run itself for our family will take place privately this year with close family and friends, but we look forward to hosting a public event in 2023.
Q: What else would you like readers to know?
A: Malan Syndrome was first identified in 2010, and is a rare genetic disorder caused by a change in the Nuclear Factor One X (NFIX) gene. The NFIX gene is located on the short arm of chromosome 19 at position 13.2.
This gene contains the instructions to produce the NFIX protein. Malan Syndrome is associated with the loss of function in one of the two copies of the gene, referred to as NFIX haploinsufficiency. The NFIX protein plays an essential role in brain and muscle development, as well as skeletogenesis.
Most often, NFIX variants are de novo, meaning they occur spontaneously for the first time in the affected individual with no prior family history. It is characterized by overgrowth, intellectual disability, vision and/or hearing impairment, skeletal anomalies, epilepsy and anxiety.
To learn more, visit malansyndrome.org.
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Malan Syndrome Foundation
What: The Malan Syndrome Foundation's Run, Walk and Roll Virtual 5K
When: Now through Sept. 3
• To donate to Noah's Garden of Hope, visit runsignup.com/noahsgardenofhope.
• To donate directly to The Malan Syndrome Foundation, visit malansyndrome.org.