Navigating Life's Journey with a Rare Genetic Disease: Meekel’s story

Meekel Stevens, a remarkable 14-year-old, is the embodiment of strength in the face of a rare genetic disorder known as Mucopolysaccharidosis type VI (MPS-VI), or Maroteaux-Lamy syndrome. This disease is characterized by the deficiency of the enzyme that helps the body break down molecules. Without this enzyme, the body’s cells cannot function as they should. MPS-VI is a multifaceted disorder, affecting many different bodily processes, which is why having a team of multidisciplinary doctors all in one place is so important for the Stevens family. Meekel's journey is marked by challenges, triumphs, and an unwavering spirit that inspires all who meet her.

Dixie Stevens, Meekel’s mom, first realized something was wrong when Meekel was born with clubfoot. What initially appeared as a treatable condition turned into a series of medical complexities as Meekel continued to grow. Dixie brought baby Meekel to Children’s Hospital New Orleans to begin a treatment plan. Despite treatment of her clubfoot, her right foot resisted correction. “She started with braces on her feet,” says Dixie. “The left foot corrected, but the right foot didn’t, so they tried a cast for 6-weeks in hopes that it would solve the issue, but the foot went right back to how it was.” At Children’s Hospital New Orleans, Meekel’s orthopedic surgeon, Dr. Tony Gonzales made the discovery that Meekel had narrowing in her spinal cord in the C vertebrae and diagnosed her with cervical spinal stenosis, a rare condition in infants, which prompted genetic testing to figure out the cause. 

“Meekel started genetic testing right before her first birthday,” Dixie recalls. All signs pointed to MPS-VI, a condition that occurs in 1 in roughly 200,000 births. The fateful call confirming MPS-VI marked a turning point for the Stevens family. Despite the overwhelming medical terminology, Meekel's mother, Dixie, recalls the moment, saying, "I remember we got the call from the doctor on a Saturday and my mother-in-law was with me. The doctor was saying all of these medical terms, and I was just 18 years old and wondered how we were going to manage this. But Meekel is a fighter.”

The family embarked on a journey that would redefine their understanding of resilience with the support of the Children's Hospital New Orleans genetics team. Meekel's journey with MPS-VI started with surgery to help correct the stenosis in her spine to give her vertebrae some breathing room. Then, she was given a Broviac (central IV line) so that she could receive infusions of the enzyme she was lacking. Surgical interventions and weekly infusions became a regular part of Meekel’s life. She has since had two more surgeries, one in 2014 and one in 2017, aimed to correct cervical spinal stenosis, utilizing innovative procedures like decompression and bone grafts. Meekel's indomitable spirit and the expertise of her comprehensive medical team played crucial roles in navigating these complex procedures.

 Living with MPS-VI entails managing a spectrum of symptoms, including cloudy corneas, a heart murmur, ear infections, short stature, and respiratory challenges. Meekel's regular visits to Children's Hospital involve consultations with specialists from multiple disciplines, including ENT, Orthopedics, Cardiology, Ophthalmology, and Neurosurgery. She maintains care with Children’s Hospital pediatric geneticist, Dr. Regina Zambrano, who monitors her weekly infusions. Despite these challenges, Meekel embraces life to the fullest, attending school and aspiring to become a chef when she grows up. “She works hard to get along just like everyone else does,” says Dixie, “Meekel uses a walker to travel long distances and gets a lot of ear infections but aside from that, she lives her life to the fullest every day.” 

Dixie emphasizes the importance of support, acknowledging the initial fear that accompanied Meekel's diagnosis. The Stevens family's dedication to Meekel's wellbeing is evident in their efforts to create an adaptable home environment. Meekel's independence is a priority, and her parents strive to ensure she experiences life like any other teenager. As seasoned parents and caregivers of a child with a rare condition, the Stevens family offers advice to others facing similar challenges. Dixie encourages parents to trust their instincts, reminding them that their experiences matter, even when others may suggest otherwise. In the face of adversity, reaching out for support is crucial. “You never think it’ll happen to you. It all happened so fast and it’s tough as young parents with a sick child,” Dixie says. “But without God she would not be where she is today. He gives her all her strength.”

At 14 years old, Meekel is small but mighty at 38 pounds and comes up to Dixie’s hip in height. Her story is a testament to the power of resilience, familial love, and the pursuit of a fulfilling life despite the challenges posed by rare diseases such as MPS-VI. As Meekel continues to inspire those around her, her narrative becomes a beacon of hope for others navigating rare genetic disorders.