In the summer of 2011 my eldest, 21, was diagnosed by DNA testing with one of the so many syndromes plaguing parents all over the world. Up until then, the problem all three of my boys share seemed rather insignificant. At age 8(middle child) we discovered quite by accident, or rather through a concerned 2nd grade teacher, that he is suffering from a hearing impairment due to a faulty cochlear. Right after that, it was confirmed for our oldest child and shortly after birth of the third boy, came the affirmation for the baby. It caused a great deal of upheaval in the extended family. Whose blood line could be at fault, as we went from specialists in Greece to the U.K. and even sent a file to an expert in the U.S.
The thing is, that I took it in stride…it was a totally non life threatening problem: All three could hear plenty, had excellent developed speech in English and German and were learning Greek and French. No one could give us any specifics, if the hearing would deteriorate, when, at what rate, but that in case this ever happened, there was always the cochlear implant, which would return hearing. So, we bought hearing aids, which they wore and wear haphazardly ever since(I am not saying that I was thrilled with the pronouncement, but I am a firm believer of the saying “it could be worse”).
Which brings me back to the summer of 2011 when during what started as a routine check up at the ophthalmologist turned into desperate hunt for answers. And my son’s complaint seemed so simple, bad night vision, though harmless, spelled Retinitis Pigmentosa
as a condition and later after lengthy and expensive DNA testing, Usher Syndrome Type 2a.
This medical fact caused another frenzied outburst in the familia! It was like witnessing a catastrophe in motion, everybody offered their ignorant “view’ of what that condition would mean to my son. For the first time in my life, I was regarding my husband of more than 20 years, as someone really not quite right in the head. His entire family was acting like he was blind already or doomed to suicide if he were told. I really can not describe how I felt about this unbridled atmosphere of doom that loomed over the future of my son.
Of course we told him about his condition, there would be no excuses or reasons plausible enough to keep this aspect from him. He has to make decisions for his future which have to involve his decreasing vision, so that he can live his life to the fullest of his capabilities and be self sufficient if no cure is found before he goes blind. Currently, he still has good vision during the day, his lack of peripheral eye sight can still be compensated by the eyes automatic ability to scan for a complete picture, his increasingly problematic night vision(dawn and dusk included) will eventually lead him to use a white cane for the visually impaired and I hope he will still be as positive about his problem as he was when the expert explained the syndrome to him…his comment was, that means if I want to have children in the future, I will have to research the odds of passing on the gene.
Having said all that, what remains to be added is that my other two sons who, as I already stated, share the same congenital hearing problem, have not been tested. The middle one, aged 19, refuses outright to acknowledge the possibility of this disease. He is in utter denial!
It saddens me to no end, to think that it is very likely that my children will lose their vision. But I hold fast to the idea that a cure will come and that it may benefit them, but not just them.
I wish I could make this condition go away, but nothing – short of wishing that they were not born -will… Here is what I do, I try to teach them that it is not our senses that define us( though they are plenty helpful)… You see with your heart and you hear with your soul.
P.S. On my own quest to come to terms with this problem, I
found came across a wonderful young Italian, afflicted by the same syndrome. He was so kind to answer many(personal) questions to me – a total stranger!! Last summer I took my son to the 17th World Congress for Rare Eye Diseases in Hamburg, Germany. The same young Italian was there on a grant he received for a project taking place in Berlin this summer, called Visionary Europe.
A picture of the two in Usher pose!