Celebrating Rare Disease Day with Grady Grundmeier

Grady Grundmeier is not your average third grader at Sawyer Elementary. He has a bright smile that lights up every classroom and a curiosity that drives him to explore the things he loves, such as reading, singing, and watching trains. Living with Kleefstra syndrome—a rare genetic condition that affects his development and impacts many systems in his body—Grady navigates challenges that most children his age will never know. Despite these hurdles, his resilience, warm heart, and infectious enthusiasm make him a beacon of inspiration for everyone around him. This is his story—a journey of courage and determination despite a rare disease.

Kleefstra syndrome (Ks) is a genetic condition that broadly affects a child’s development and multiple body systems. It typically presents with intellectual disabilities that can range from moderate to severe, along with global developmental delays marked by missed milestones. Children with the condition often have low muscle tone (hypotonia) and significant challenges with communication, with speech sometimes being severely delayed or absent. In addition, they usually exhibit distinctive facial features. The syndrome may also come with a range of other complex issues, including heart abnormalities, severe respiratory infections, epilepsy, Autism spectrum disorders, hearing loss, kidney anomalies, as well as difficulties with sleep, feeding, and behavior. 

Kleefstra syndrome is caused by a mutation in the EHMT1 gene or the deletion of a specific region of chromosome 9 that includes EHMT1. Norwegian clinical geneticist Dr. Tjitske Kleefstra officially recognized the syndrome in April 2010. Fewer than 1,000 people have been diagnosed with the syndrome in the United States. However, it is estimated that thousands more are likely living with the condition.

“Less than 24 hours after Grady was born, he suddenly began choking and could not clear his airway on his own,” Shannon Grundmeier, Grady’s mother, recalls. 

For the next 18 days, Grady was placed on oxygen support while doctors conducted numerous tests in search of answers. He was ultimately diagnosed and treated for aspiration pneumonia. At the same time, Shannon and Jacob, Grady’s father, anxiously awaited the results of his first round of genetic testing. 

“We believed we were out of the woods but soon realized this was not the end of his difficult journey,” said Jacob.

By his 9-month well-baby exam, it was evident that Grady hadn’t met the usual developmental milestones. Although their pediatrician reassured Shannon and Jacob that every child develops at their own pace, they insisted on seeking further support. In the following months, his care team expanded to include many specialists, including Otolaryngology, Gastroenterology, Pediatric Neurology, and many more. 

Shortly after his first birthday, Grady’s care took a pivotal turn when he was evaluated by a developmental pediatrician at the University of Iowa Center for Disabilities and Development. This in-depth assessment revealed further insights into his developmental challenges, underscoring the need for a broader, multidisciplinary approach to his care. As a result, his care team expanded to include more specialists in Audiology, Endocrinology, Pediatric Genetics, Dietetics, and Speech Therapy, just to name a few. Each expert brought a unique perspective, ensuring that every facet of Grady’s development was addressed comprehensively as he continued his journey. 

While many parents were celebrating milestones, the Grundmeiers were faced with two hospitalizations, five separate occasions of sedation for procedures, and blood samples for six rounds of genetic testing. At 2 ½ years old, they finally received Grady’s primary diagnosis.

“When we received his diagnosis, Grady was completely non-verbal and had only recently begun to walk on his own,” said Shannon. “He would later require structural support from Ankle-foot orthoses. With support from an augmentative and alternative communication device, he eventually learned to read and communicate verbally at age 5.”

Throughout his journey, Grady has been closely monitored and supported by a dedicated network of over 15 doctors, specialists, and genetic counselors. Alongside these experts, he has collaborated with at least 25 therapists, case managers, and service coordinators, each playing a vital role in tailoring his care to meet his unique needs. Grady’s schedule remains robust today, with weekly occupational, physical, and speech therapy sessions that continue to build on his progress. Beyond these structured therapies, he embraces adaptive sports activities and swimming lessons with contagious enthusiasm—even in the face of limited offerings in the Ames area. His ongoing commitment to these activities fuels his development and exemplifies his resilient spirit and determination.

“While we faced many challenges in reaching this diagnosis, we consider ourselves lucky to have a name and community of others who are familiar with the condition,” adds Jacob. “Countless others are still searching for answers of their own.”

Behind his inspiring resilience, the Grundmeiers admit there also brings a series of difficult sacrifices. 

“At times, we have voluntarily taken cuts to our family’s income to have the flexibility to allow Grady to participate in recommended in-home and private therapy sessions,” said Shannon. “We have also struggled to find childcare providers to meet his needs, which has impacted our well-being and relationships with others.”

“Parents of children with complex needs are often forced to make difficult choices when employers, healthcare, childcare, and education systems are not designed to support these needs,” adds Jacob. 

Grady has overcome countless obstacles, and his parents are incredibly proud of his continued progress. His determination shines through every therapy session, and he greets each challenge with a positive attitude and an unwavering work ethic.

When asked what advice they would offer to other parents facing similar challenges, Shannon’s heartfelt counsel resonates deeply. “Find and build a support network for yourself and your loved ones. No one expects their child will be diagnosed with a rare condition and the journey can be incredibly lonely. Allow yourself the time and space to move through the life-altering feelings of shock, anger, denial, grief, understanding, and acceptance.”

Despite the challenges posed by Kleefstra Syndrome, every day for the Grundmeiers has been a testament to resilience and love. In every smile, every determined step, and every moment of laughter, they see a world full of possibility. Grady’s journey teaches us that true strength lies in embracing every part of who we are—even those parts that seem most fragile. With hearts full of love and hope, the family continues to inspire all who cross their path, leaving a legacy of compassion, perseverance, and an unwavering light that guides them into the future.

To learn more about Rare Disease Day visit https://www.rarediseaseday.org/.