thecainfoundation

Hi,

My 6 months old baby was born with asymmetrical ears, bilateral skin pits and skin tags on right ear. She has small and curved ear canal on one side. She passed her newborn hearing screening test and was tested again at 3 months old, all test turned out fine. She recently had a ultrasound for her kidneys and we got the news yesterday that she "has something on it that's not supposed to be there". But we were told not to worry and go for another ultrasound in 6 (longs..) months.

As for myself, I was born with bilateral skin pits, and became progressively deaf at the age of 6, had a cochlear implant since I'm 7. I had something in my neck surgically removed (I never linked the two together until I heard about BOR) I also have the eyes duct overflowing from time to time, especially when I eat. I was never diagnosed for BOR syndrome or anything, the doctor only said I have a "congenital anomaly". I never had an ultrasound for my kidneys but I found it funny that all the food that you're not supposed to eat, I cannot eat because it makes me feeling tired and sick.

My doctor is really young and just out of medical school and she doesn't think it's all related. I had to insist several times for her make an appointment to have my baby's hearing checked again. I was just wondering if you can get tested for this syndrome here in Canada ? I live in Ottawa. I am profoundly shocked about how every single thing I've ever had seems to be related to BOR syndrome and why no doctor ever mentioned it. Thanks for any help on this matter !

Nancy
don't feel alone. Probably every parent here has been in your shoes. I live in a major medical area and still no one listens to my concerns. Waiting for testing to be done can be agonizing but remeber, it just gives you a name to what you already know is going on. There are many differences to a child with BOR but it sounds liek many of which you have expereinced yourself.
I had to also insist on being seen by several other doctors. I would be blunt with your young pediatrician. Tell her what you think it may be and ask for the testing to be done. I had to have the testing done by a Genetic doctor and it was sent to Canada from Boston. My child does not have any kidney disfunction at this time. But who knows. Regular hearing tests are good for routine care.
Good luck. Dont hestitiate to post on this forum. People are really helpful and can provide good supoprt.
Pam

Thanks so much for the answer, it helps just knowing we're not alone in this ! I'll keep you posted as I get more and more clues about Chloé's condition. I really want to have a definite answer soon before I have any more kids. It breaks my heart knowing I could have a 50% chance of passing this with each pregnancy, never knowing which symptom will be predominant or how bad they are going to be. À suivre...