thecainfoundation

Hi everyone,

I was just referred to this website from the Geneticist at Sydney Children's Hospital. Fiona what a great website, really nice to know we are not the only ones even in Sydney.

It looks like BOR runs in the family with my Dad, me and my first and third sons with symptoms, we all wear hearing aids. My Dad has mod/severe hearing loss and earpits, I have mod hearing loss, had one ear pit and a branchial fistula, which we have only discovered what the hole that I had in my neck as a baby was called when my 3rd son was born with one too. My eldest has mod hearing loss and my youngest got the worst of it with mod hearing loss, a branchial fistula, an attached helix and most significantly an incomplete unilateral cleft lip and palate. So far we have not seen any kidney issues but we have not all been checked out.

After little Alex was born last year, looks like we had one of your pediatricians Fiona visiting us when he was born. Dr C actually mentioned to me to get the kidneys checked out and told me the name of the hole in his neck. With that info I went searching the internet and discovered BOR, it was like a light went on. Finally something that fitted and could cast aside some of the family theories.

We have now asked to be part of a research study that Dr Smith is doing at the University of Iowa mainly relating to hearing loss dominant genes.

All my sons were C sections and ended up in special care behaving young, though gestationally they were not. My first Ronan was very lethargic and difficult to feed, he was born before the SWISH program so we had to wait 5 months (even with my pushing) for the hearing test and another 6 months to confirm sensoneural loss and fitted with hearing aids. He was behind his peers for a long time but with a lot of work he is catching up and will be 7 in Nov. Our third son also behaved young and had added feeding issues with his cleft. This been a difficult year with 2 major operations and him being not 100% with reflux and tracheomalacia (soft windpipe). We have seen more doctors and therapists than I can count. Hopefully we are over the worst of it.

I am now an active member of the Cleftpals NSW and think that a link to this site would be worthwhile.

Thanks

Hi there,

Firstly I want to say a BIG welcome to our site and that I am soooooo excited to finally know another family in Sydney with BOR. I am very interested to see where you live? The closest families I know with BOR are in Adelaide and Mackay. I have many great friends all round the world now due to my site, with some very special friends in South Africa but none that I can go and meet for coffee. We were told just after Harri's diagnosis that the Doctors at Sydney Childrens have treated other BOR patients but due to privacy laws they are unable to put us in contact with any of them. And I have never had any other contacts from the Hospital. So I am actually very excited to hear from you. Was it Dr Mowat that referred you onto us? We have our Hospital appointment this week so I am thinking about printing up some little cards/ flyers to take out there with me just to promote us a little more out there. As I am sure there must be others????

I very much look forward to hearing back from you.
Kindest Regards
Fiona Cain

Hi Fiona,

My name is Fiona as well and we live in Padstow, so barely 15 min from you. We go to Como regularly, doing the walk across from Oatley on a Sunday. Lovely spot! would love to catch up for a coffee one day.

Dr Mowatt's offsider Emma referred us actually. I have seen both of them.

They told me the odds are 1 in 40,000 to have BOR so there must be more in Syd. My EYA1 gene test was neg but they said only 40% come up there. I wonder sometimes if blue eyes have something to do with it as well, as all of us that have it have blue eyes, but my mid son who doesn't has brown.

Regards
Fiona

Hi Fiona,

I am so excited to hear that you are so close. We have to meet up for coffee for sure. Maybe take the kids to the park.

I have your email so I will send you my mobile number and we can orgainse a day and time to meet. Can't wait to have many more chats with you.

Will contact you soon.
Fiona

Sounds good, love to have a chat too.

Cheers
Fiona

Hi Fiona,

I would love to book in with you to meet up for a coffee. What days are best for you? And where would you suggest. I am free on Wednesdays and Thursdays without both my boys as they are at school and preschool otherwise i can do it any other day.

Fiona