We made Madison’s genetics appointment back in early July... The soonest available appointment was October 24. With mommy in California, daddy and Gloria (our nanny) took Madison to Dr. Davis – our geneticist at Cornell Medical Center. The appointment began with a lengthy conversation with an assistant to Dr. Davis, as she was teaching a class. The assistant went through mommy and daddy’s family trees – asking numerous questions (all negative ones) about each family member, how old were they now, how old were they if they died, how they died, illnesses, children, if not children – how come, etc. After Dr. Davis’ class ended, she met with Madison. She gave Madison a routine physical and then went over the family tree. The conversation with Dr. Davis felt a little weird, as her assistant didn’t tell her that Gloria wasn’t my wife. In fact, Gloria told her a few minutes into the conversation, in which Dr. Davis replied, “Yes, something seemed a little off.” With Dr. Davis getting a better understanding of the entire family history and situation (and now realizing Madison has European descent on her mother’s side, not South American) we went over the possibilities of what may have caused the hearing loss, as well as future concerns.
Hearing loss is either caused by problems during pregnancy/labor, structural impairments, or by certain genetic conditions. Pregnancy was more than fine, mommy was very strict and stayed away from caffeine, splenda products and even deli meats! Labor and delivery could not have gone any smoother. Not a single day goes by with the thoughts of "what did we do to cause this??" Dr. Davis reassured us that Madison's hearing loss is not a result of something we did. With Madison’s CT Scan still in the future – we haven’t been able to rule out structure. In fact, Dr. Davis kept mentioning how adorable Madison is, and how coordinated she is – which may lead us to rule out structural issues. This is because if there were structural issues, it’s not usually isolated to hearing loss. For example, many children with hearing loss may require other types of therapy (i.e. occupational or physical). If the hearing loss is not due to structural impairments, science is not always able to determine the genetic cause. Because there are so many possible mutations, they are not able to test for every possibility. The most frequent genetic cause is due to a mutation in the connexin gene. In fact, the 3 most common ethnic groups are Ashkenazi Jews, Caucasians and Asians. Apparently 1 in 33 people carry this recessive gene.
Based on Madison’s physical evaluation and her ethnic background (and not being half-Paraguayan) Dr. Davis encouraged us to have her tested for Connexin. The only effect of the Connexin mutation is to prevent hair cells from growing within the ear/cochleae, hence, not allowing one to hear. There are no other impacts to her vision or motor skills. So, if she were to test positive, mommy and daddy can breathe a little easier. If she tests negative, then there are several other syndromes out there that cause deafness in infants – each worse than the next, and many of them are impossible to detect before other symptoms appear.
We thought that if they were to test for Connexin, it would be with a cotton swab. How wrong we were! Two vials of blood later, and a screaming baby…the doctor told us it would take anywhere from 3-5 weeks for the results. And so we wait…