Branchio-Oto-Renal Syndrome - The Cain Foundation

Max is 7 1/2 months old and was born on 26-09-'07 by elective caesarean section. The reason for the C-section was unrelated to my pregnancy with Max, but because of damage caused during the birth of my eldest son. Max's weight a healthy 8.1 pounds at birth. Max has 2 older brothers who do not have any signs of BOR.

There were no complications during the pregnancy. We did the usual check ups, ultrasound at 19 weeks (they found a calcium deposit on his heart, but we were told that this is very common and nothing to be worried about). We also did a first trimester test which gets done between 11 and 13 weeks. This test involves an ultrasound and blood test and screens for Down syndrome, but everything was fine.

Straight after birth, Max got checked by a paediatrician, who noticed that Max's right ear was folded over and smaller then his left ear; it also has no ear canal. He also had a little skin tag at the same ear (the skin tag fell off by itself after a couple of days). A little dimple at the lower part of his neck was noticed as well, which we were told at a later stage is a branchial fistula. Max wasn't diagnosed at birth with the syndrome. The Dr. just said that it was isolated to an under developed ear and a little dimple in his neck.

When Max was 3 months old we went to see a paediatrician for a general check up, he said the same thing as what we were told when Max was born, but during the appointment the Dr. went to ask a college who was more specialized in bronchiolar deformities to have a look at Max. He straight away started asking questions about the branchial fistula and if there was fluid coming out of it. I thought this was a very strange question as I thought it was just a dimple. This doctor also told us to have an ultrasound done on Max's kidneys.

Max had a kidney ultrasound and doesn't have any kidney problems. (He'll get them check again as he gets older). We've also been seeing a geneticist, who diagnosed Max with BOR syndrome. Some of Max's blood has been sent of for genetic testing at a research centre in the US (Iowa). (Results aren�t back yet). My partner and I both have had our hearing tested and a kidney ultrasound, but neither one of us has a hearing loss or kidney problems.

We are still at the stages of figuring out the severity of Max's hearing loss. His right ear has an atresia. His left hear also has a hearing loss at the moment, but it is still unsure if this is just because of fluid in the ear. If this is the case his hearing should improve. Max just had a CT scan. The CT scan was done on his ears and neck (the neck to have a look at the fistula).The scan should tell us bit more about how Max's inner ears are formed. I am very keen to get results back soon, as I am worried he'll get behind in his speech development. In the coming months Max might get a grommet placed in his good ear and his fistula removed at the same time.

Max hasn't been fitted with a bone conductive hearing aid yet. This all depends on how well his other ear functions. Bone conductive hearing aids can be very unconvertible to wear. (They have to sit very tight against the head, so the sound can vibrate through the scull instead of the ear canal). Max has just joint a program where he will receive Auditory-Verbal Therapy. An Auditory Verbal therapist guide parents to teach their children to listen and acquire spoken language.

We're not that worried about Max. He's a very happy little camper and besides his hearing problems (and neck fistula), doesn't seem to have any other medical issues at the moment. He's growing at a normal rate and weighs a healthy 8.7kg which is the average weight for a boy at his ages. I am very hopeful that with the support we are getting now, his speech will develop normally. He might find it harder to hear in a classroom situation, but this is still years away.

Max is a gorgeous sweet little boy, who has to put up with two older brothers fussing over him. It won't be long before he'll be running around with them. We are very blessed to have 3 amazing boys all unique in their own little way.

Thank you to Fiona for creating this website and for all her time and effort that she puts into it. I have found the forum really helpful, it has been very nice to meet and speak to people with similar experiences.