Branchio-Oto-Renal Syndrome - The Cain Foundation

Our beautiful daughter, Hannah, was born on the 4th March 2007. She was 8 days overdue and delivered by emergency caesar after showing signs of distress during labour. She weighed in at 4.24kg (9lb 6oz). Hannah is our second daughter. Our eldest, Ella, is perfectly healthy. We just assumed that we were having another healthy baby as none of the pregnancy scans showed any abnormalities.

The pediatrician initially noticed the two skin tags (preauricular tags) on her left ear and my husband, Cameron, saw the slit like marks (Bilateral branchial fistulae) on either side of her neck and we later found that the one on her left side opened up to a small hole and that they both leaked a small amount of clear fluid. I noticed that her right ear stuck out slightly (lop-ear deformity) and what looked like a blister (cyst) on her bottom lip. We also found a little dimple (ear pit) at the top of each ear. Her first newborn hearing screen showed her right ear to be fine but her left ear came up with a 'refer' result. Two more screens showed the same result so we checked out of hospital with a referral to a pediatric audiologist for further testing.

There is no family history of hearing loss and we were told that 8 times out of 10 it was fluid on the ear. I was trying to be positive but was concerned about the other symptoms we had found. Just before 3 three weeks of age further testing confirmed that Hannah had moderate to severe sensori-neural hearing loss in her left ear. This type of hearing loss is permanent. This was a shock to us but we were grateful that her right ear was fine and that we knew from such a young age so that we could learn how to communicate better with her from the start. At 9 weeks of age Hannah�s hearing was retested to confirm the initial result and check that it hadn't got any worse. Luckily it hadn't.

Two pediatricians, a pediatric surgeon, an audiologist and ENT specialist had all told us that Hannah's symptoms were all related but it wasn't until our appointment with a geneticist just before 6 months of age that we found out that she had BOR syndrome. It was good to finally have a name for it. Cameron and I have no symptoms of BOR syndrome and again there is no family history, so it looks as though Hannah's was spontaneous. It was explained to us that a specific gene just didn't form properly during the pregnancy. It's like someone said to me, 'Family history has to start somewhere'. Hannah's DNA has been stored and the geneticist is currently looking into getting it tested. If they don't find anything with her DNA then that is as far as the testing will go but if they do find something then Cameron and I will have our DNA tested as well.

The geneticist also referred us for blood tests and an ultrasound to check Hannah's kidneys and these results came back normal which was a big relief. He recommended that we have them checked every 3 - 5 years to ensure that they continue to be okay. Hannah will have her hearing tested yearly to make sure that her loss doesn't get any worse. At this stage they are going to wait until she gets to school to see if she needs a hearing aid. She has also had her eyes tested, which is routine when a child has hearing loss and they are fine.

Hannah recently had her first operation to remove the skin tags, ear pit and neck fistula from her left side and in the coming months will have the ear pit and fistula removed from her right side. She recovered really well from her operation. The scars should heal nicely and not be too noticeable. The surgeon is not concerned about the cyst on her lip at this stage and I am not even sure if this is related to BOR syndrome. I have not been able to find any information that has listed something like this as a possible symptom.

Hannah has a fantastic happy nature and none of her symptoms have caused her any discomfort. I worry about how her hearing loss will affect her once she gets to school. And even though many years away, I also worry about the fact that her children have a 50% chance of having BOR syndrome and that their hearing loss could be worse. But who knows what medical advancements will have happened by then.

I was very happy to have found The Cain Foundation website and be able to get in touch with Fiona and her family. It has been a great source of information and also a huge comfort to know that there is someone else out there who understands your situation.

Michelle Bettini
18th November 2007