In 2005, Xavier was born. As with most newborns, he received a newborn hearing screening test which he failed. Xavy’s parents were devastated but moved forward as best they could. What followed over the next 4 yrs were chronic ear infections, multiple medications and numerous trips to hearing specialists. None of the clinicians were able to explain the chronic ear infections or the cause of Xavy’s hearing loss. Despite his chronic ear infections and abnormal hearing, Xavy was exceptionally bright, insatiably curious and did not experience any delays in language or speech.Thank you for reading this post, don't forget to subscribe!
In 2010 at 5 years of age, Xavy was diagnosed with Bi Lateral Sensorineural hearing loss (SNHL) nonsyndromic. He was fitted for hearing aids and told he would wear them for the rest of his life. Xavy started school and was the kid in the front of the class wearing the hearing aids with the brightly colored ear molds.
In January 2015, a New York Times article written by Andrew Pollack entitled “Ear Ailments are New Focus for Drugs from Vertigo to Tinnitus”, talked about advances in the development of therapies for hearing loss including the work of Dr. Hinrich Staecker (Univ of Kansas) principal investigator for the first human clinical trial to regenerate cochlear hair cells in the inner ear. With this new insight, Xavy’s parents went about finding the cause of Xavy’s hearing loss.
First, a CT scan to assess the structural integrity of his outer, middle and inner ear. No structural defects were found. Next, a blood test to screen for the most common cause of hereditary hearing loss- mutations of the GJB2 gene (aka Connexin 26). The test results were negative. Xavy’s blood was then sent to one of the leading experts in identifying genetic causes of hearing loss, Dr. Richard Smith’s lab at the University of Iowa.
The test results: “This patient carries the following variants in gene: STRC: Allele I: STRC-CATSPER2 deletion; Allele 2; STRC to pSTRC conversion. These findings are consistent with autosomal recessive non-syndromic hearing loss at the DFNB 16 locus”.
With this knowledge, interviews were conducted with over 25 Key Opinion Leaders in the hearing loss field, over 21 companies developing hearing loss therapies were profiled, relationships were established with hearing loss foundations, a blog was created on Linked-In called “Dispatches from the Hearing Loss Space” and a scientific conference was attended (ARO- Association for Research in Otolaryngology).
As a result of the aforementioned due diligence and with the support and encouragement of the scientific community, a company was created. A company dedicated to developing solutions for those with hearing loss. The company is Rescue Hearing Inc.
In spite of his hearing loss, Xavy is a very bright student and active in team sports like swimming, baseball and lacrosse. Xavy is also a gifted musical theater actor who has appeared as “Oliver” in Oliver the musical, “Captain Hook” in Peter Pan and as “Tiny Tim” in a Christmas Carol. He has auditioned for the Broadway cast of “Matilda” in NYC, participates in a NYC based musical theater camp for kids called “Broadway Workshop” and has appeared in a commercial for “Disney”