Miracle Children 2024 Highlights: Maddilyn Wilber's Remarkable Recovery

In November 2019, Maddilyn Wilber was born, and her parents' world quickly changed when she failed her newborn hearing test. Further evaluations, including a more precise test called the Auditory Brainstem Response Test, confirmed Maddilyn's profound hearing loss. This diagnosis was later revealed to be due to Usher Syndrome, a rare genetic disorder that causes congenital or progressive hearing loss and, in some cases, vision loss.

Determined to help their daughter, the Wilbers decided to use technology to augment Maddilyn's hearing. At just one year old, Maddilyn underwent cochlear implant surgery, with Dr. John Faria performing the procedure. The implants consist of an internal processor surgically implanted behind each ear and an external processor that sits on the outside of the skull. The external processor communicates with the internal device via magnets, allowing electrical signals to stimulate the cochlea to receive sound.

Maddilyn's cochlear implants have transformed her life, enabling her to hear and interact with the world like a child without hearing loss. Her language development, which was significantly delayed due to her near-deafness, has made up for the delay, and she is now on par with her hearing classmates. She has also been integrated into a general-education classroom, with an Individualized Education Program (IEP) to support her needs.

However, Maddilyn's journey has not been without challenges. She has faced multiple health setbacks as an infant, including jaundice, severe RSV, recurrent ear infections, and frequent bouts of strep throat. More recently, she has been experiencing headaches and is receiving treatment for them.

Despite these obstacles, Maddilyn's parents have been actively involved in her care and therapy. She continues to see a speech therapist and a teacher of the deaf regularly at school.

In the face of Maddilyn's diagnosis, researchers are working tirelessly to develop gene therapy for Usher Syndrome. Recent progress includes the creation of preclinical models for the disorder, such as the use of induced pluripotent stem cells and organoid models. While specific gene therapy trials for Usher Syndrome are not yet widely documented, broader initiatives aimed at related conditions like retinitis pigmentosa are underway. For instance, SparingVision is conducting a clinical trial for a protein therapy to preserve vision in retinitis pigmentosa, which could potentially inform treatments for Usher Syndrome.

Events like the USH2025 symposium highlight the global effort to advance Usher syndrome research, including collaborations on diagnosis, treatment, and care. Experimental gene replacement therapy targeting photoreceptors has shown promise in mice models of Usher Syndrome Type 1C, indicating potential avenues for future human trials.

While direct gene therapy trials are not yet widespread for Usher syndrome, ongoing research and advancements in related fields suggest a promising future for therapeutic development. This hope is a beacon for families like the Wilbers, who continue to navigate the challenges of Usher Syndrome with resilience and determination.

[1] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041582/ [2] https://www.sparingvision.com/ [3] https://www.nature.com/articles/s41598-019-42405-4 [4] https://www.ushersyndrome.org/events/ush2025/

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