Joel age 9 & Leo age 7 are brothers both diagnosed with ZC4H2 Associated Rare Disorders (ZARD). Joel and Leo are often mistaken for twins and although they share many similarities, they have different personalities and preferences.

Joel and Leo love classic animated Disney movies and Walt Disney World. They love cruising on their adaptive bikes, riding roller coasters, exploring nature trails in their wheelchairs, swinging at the local park, feeling the ocean waves, listening to live jazz music in New Orleans, and spending time with extended family. Joel and Leo both attend school full time in a self-contained classroom for children with severe cognitive impairment. We live in middle Georgia, USA.

Joel loves tasting chocolate and sweets especially Georgia peach cobbler with ice cream. His favorite movies are currently Beauty and the Beast and The Little Mermaid which are watched daily. Joel has music playing 23 hours a day and will raise his elbow when he wants the song changed. He has been obsessed with music since infancy. Despite being nonverbal, Joel has strong opinions and loves making choices about his daily activities by smiling or raising his arm. He has an exceptionally precise internal clock and communicates when his schedule is off by minutes. Joel loves physical therapy and massage; however, he dislikes classwork and has mastered faking sleep to avoid it including snoring on occasion.

Leo, like many younger siblings, is influenced by his brother’s interests. Leo also loves Disney movies but prefers Moana and Aladdin currently. While Joel would prefer to relax in the pool, Leo prefers to splash and play with his dad. Leo loves riding in the golf cart with wind whipping through his hair. Although Leo is over fifty pounds (and bigger than his brother), he still loves to cuddle and expects cuddle time every night. Leo is a joyful child who is rarely without a smile. Also nonverbal, Leo has grown more opinionated about his preferences with maturity which we strongly encourage and will smile or raise a hand to make a choice.

Joel was diagnosed with the pathogenic ZC4H2 mutation through a lengthy and emotionally painful process. Joel’s health challenges were a surprise at birth. He had significant issues with breathing in addition to heart issues and as a result was air-flighted to Texas Children’s Hospital for heart surgery after a few days in the NICU. The genetic microarray panel completed at birth was incorrect and caused confusion in regards to treatment. Citing cost, insurance denied any further genetic testing. In part because of Joel’s contractures (Joel was never formerly diagnosed with arthrogryposis), Joel’s maternal grandmother ended up reaching out to Dr. Judith Hall via email and presented Joel’s case to her via slide show presentation. Dr. Hall suspected arthrogryposis and possible spinal muscular atrophy and directed us to the Translational Genomics Research Institute (TGen) which was conducting exome sequencing for a clinical study. We still failed to get a result until… Leo was born a year later. TGen compared Joel and Leo’s exome sequencing results and the diagnosis was finally made. However, in 2014, information about ZC4H2 was extremely limited and inaccurate. It was not until we connected with more families through Facebook that the diagnosis really made a difference in clinical treatment.

Unfortunately, Joel and Leo are severely affected by ZARD. Some of the neurological symptoms they have include: epilepsy, cortical visual impairment, apraxia, dysphasia, spasticity, muscle atrophy, cognitive impairment, tethered spinal cord, Riga-Fede disease (Joel), autonomic dysfunction, and neurological pain. They also have orthopedic symptoms which include: scoliosis, kyphosis, hip dislocation, rocker bottom feet (Joel), proximally placed toes, talipes equinovarus (Leo), ulnar deviation of fingers, proximally placed thumbs, and symphalangia (a lack of finger joint on the ring finger of their left hand). Other symptoms include: keratosis pilaris, bullous pemphigoid dermatitis, strabismus, ptosis (Joel), optic nerve hypoplasia (Joel), heart defect (Joel), urinary incontinence, and asthma. Joel and Leo both have spinal growing rods and gastric tubes. Joel and Leo both receive speech therapy, occupational therapy, physical therapy, and vision services in school, as well as additional physical therapy services in a private setting. As they have aged, we have prioritized their time in the classroom over additional private therapies.

Despite all of these symptoms, Joel and Leo live happy and enriched lives. Like many families we struggle with respiratory illness, surgery recovery, and general burnout, but we choose to focus on the positive by relying on our Catholic faith, supportive family, and caring medical professionals and educators.

I am so grateful to have found an amazing advocate, friend, and fellow special needs mother in Cathy Paul-Fijten. Thanks for creating this foundation and we look forward to continuing the mission of empowering our families with ZARD.

If any fellow parents have questions about our story feel free to reach me personally at connect@zc4h2foundation.org.