thecainfoundation

I was just clinically diagnosed (by a geneticist) to have either BO or BOR Syndrome. I'm waiting for a kidney scan to make the determination. My husband and I have one child without BO(R). We're wondering if we should risk having another, knowing that there is a 50/50 chance of passing it on. I would be no problem if the child were like me, but we're worried about a severe case and no one can tell us the probabilities of various severities.

We're trying to decide if we should adopt or roll the dice!

Did anyone go through this same analysis? Did you decide to have or not to have children? How did it turn out?

Those of you who have kids with and without BOR... Was the child with BOR significantly more difficult because of the medical problems/hearing loss?

Also, my father and I both have a unique hearing loss where we can hear high frequencies, but not low frequencies and therefore our speech is completely normal. Is this unique to BOR or are there different types/frequency losses associated with BOR?

Dear Dannah,

Thank you so much for logging on to my site. I hope that we in some way will be able to help you.

I read your email and completely know where you are coming from. I had my first born child diagnosed with BOR Syndrome within 1 week of him being born. Instantly I thought to myself I would never have another child. My husband or I do not carry the BOR gene so the chances are less for us the second time round although I was still extremely scared. We did fall pregnant again 14 months later and my second son was born without BOR. I know that you can have an amnio test to find out whether the unborn child carries BOR or not. Also ultrasounds will show any facial abnormalities but unfortunately kidney problems are extremely hard to pick up unless there is one missing or they are extremely malformed. Unfortunately BOR Syndrome has a very large range of symptoms. There are similar cases but I have not yet heard of two exact cases with the exact same symptoms present. My BOR child was definately harder to deal with the my second child. My first had extreme feeding difficulty which we are not excatly sure if that was realated but I have found that most BOR children to have feeding difficulties. Harrison also struggled to put on weight. And just the continous medical checks are both draining on the child and the parents. I guess in my case having Harrison first made it easier to have my second. I am going to try for a third child next year but will still no doubt be worried about the chance of having another child with BOR even though the stats are low.

I do sometimes find myself thinking about what Harrison will decide when he is a grown man. He will have the 50% chance of producing children with BOR. We have been very lucky that Harrisons symptoms are minor compared to others. His kidneys are in bad condition but other than that he does not have any other immediate problems. Most cases I have heard of have been very complex and severe. I hope that you have a look over my site and maybe chat with some other families.

Take care and I look forward to hearing more from you.

Sincerely
Fiona Cain

I myself have BOR syndrome and have the same hearing loss that you have. My son Aidan is 4 months and has BOR as well. He has brachioclefts and both his ears did not develop correct. The good news is that so far his kidneys and hearing are fine. I struggled with the thought of having another child. My husband is all for it, but I worry about have another child with the severe end of BORs. At first it was very upsetting to me that I passed this on to my son and about his deformed ears. I blamed myself, that he would be looked at and picked on (we are going to have them corrected before he gets into school to try avoid the teasing). Anyway, the end result is that we are going to roll the dice again because when I look at my unique son, I can't picture my life without him and his happy go lucky personality!! He is such a happy baby and I am so blessed to have him! Wish you all the best with what ever you decide!

Well, after seeing the geneticist and hearing that if we had a baby with BOR, he or she would most likely be like myself and my father, we decided to risk it and have another baby.

We had all the prenatal genetic testing done (excep amnio) and everything was clear. We had several Level II sonograms by a parinatologist to follow what looked like an aortic arch malformity (but turned out to be fine when he was born). We asked the perinatologist to look for signs of BOR and she never found anything. We though he would be fine, but when he was born it was clear that he did have BOR Syndrome. He has bilateral ear pits, one branchial cleft cyst, and a bilateral hearing loss. The MRI shows coclear dysplasia and his cochleas do not do the full 2.5 turns. We had his kidney's scanned after birth (I had too much amniotic fluid during the pregnancy) but they were normal.

So, we're happy! We have a wonderful baby boy everything is great. We haven't figured out what his hearing loss is yet, but I'm sure it'll all work out in the long run.

Dannah