The flurry of medical excitement over Li-Li’s recent cochlear implant is fading a bit, and we’re considering bilateral implantation, although less urgently than our efforts to get that first surgery completed prior to 2 years, after which the brain is increasingly less plastic, mapping is not so easily achieved, and by which time it is optimal that speech recognition skills have begun to be developed. So, of course, it makes sense to begin a whole new discovery: research into the wee one’s genetics.
This is a fascinating area for two big reasons: 1. we know very little about her first year and nothing about her birth or her first parents (something I imagine that Li-Li at 16 will want to remedy) and 2. knowing the cause of her deafness may have medical implications (is it hereditary — not a big deal, but something to note, is it associated with heart, kidney, potential blindness or other disorders, for example, Usher’s, that we need to watch or test for?).
She’s had significant medical analysis as part of the cochlear implant process, as well as several DNA tests that show no mutations for the Connexin 26 or 30 genes, PDS gene, 12S rRNA/MTRNR, tRNA-Leu (MELAS), tRNA-Lys (MERRF), or tRNA-Ser genes — all associated with sensorineural hearing loss. You all know how lovely my little legal alien is, but those unusually wide-set eyes and flat profile combined with deafness have flagged a medical possibility: Waardenburg Syndrome.
Waardenburg is most often characterized by a shock or forelock of white hair at the temple and one blue/one brown eye (which she doesn’t have) along with deafness and wide-set eyes (she does have) but not all symptoms are required. The implications are mostly positive: if she has Waardenburg Syndrome it rules out a lot of other possibilities (or so my geneticist says). And the most significant of implications: “She may be deaf!” Not exactly a surprise anymore.
Oh, I know, I got you all excited about a profound new medical discovery, and you knew that already, didn’t you? But, the DNA tests won’t come back for another 3 months. So much for all those cool TV shows where they identify mothers, fathers and murderers with DNA testing conducted overnight.
And, I asked if we could determine other information, too: from where in China her family originates, for example. Not available now, but our geneticist reassured me that by the time Li-Li is 16 and wants that information, we’re sure to have a lot more information at available from this little vial of her precious blood.
UPDATE: We’ve since gotten the results of this PAX 3 analysis and the tests indicate with 95% certainty that she does not have Waardenburg Syndrome, so we remain in the dark as to the cause of her deafness.