thecainfoundation

Our daughter was born 12-21-07 after a complicated pregnancy. It all began at 6 weeks (when the ears form) when I was told I would miscarry, obviously I never did. Flash forward to my 21 week ultrasound. I was diagnosed with polyhydramnios (excess fluid) and there were also a few other findings that my Dr didnt discuss, (I have requested my records and am waiting for them to arrive). As far as I Know everything was normal with her kidneys, but no testing was done by my Dr to determine the cause of the excess fluid, which really bothers me, it leaves too many unanswered questions. From 23 weeks on I had problems with preterm labor and was on various medications for it. Our daughter passed her hearing test in the hospital, one ear had to be tested twice. I noticed shortly after arriving home that she has bilateral pits. She is going on the 21st for a 2 hr hearing test and the local university. I know she can hear, but often I wonder how well. She has clogged tear ducts which have yet to clear up. I don't know what to do from here. If the tests show that she has hearing loss do I push for further testing? Do I push for it even if she has no hearing impairment? My husband has 2 1st cousins with hearing impairment and his sister had to have surgery when she was 3 to fix a problem with her ureters.




The pit in this ear isnt showing too well as it is clogged with "stuff" right now.

Hi my name is Fiona Cain and I am the creator of this site. I hope that is has been of some help to you.

Firstly what is your name and where are you located?

This does look like the symptoms of BOR Syndrome. I would definately look at getting a second opinion from some one other than the Doctor that you have been seeing for the past months. This is a real hard case as many Medical Practitioners no nothing or only of the name of BOR. I have loads of information here which you should read through to see if you think there may be other symptoms of BOR that are related to your little girl.

This must be a very hard time for you. Keep calm and try to stay on top of things. A believe a Mother knows best and in most cases after reading through my forum you will find that this is true. Some parents persisted with what they thought may had been BOR and went against the Drs and they turned out to be correct.

Your daughters ear pits are the exact same as the ones my Son had before i had them removed. Whiich I also strongly suggest doing. It was the best thing we ever did to avoid infections etc. I am glad to hear that there are no kidney problems that you know of. Have you noticed any little marks on her neck at all? They seem to go along with the ear pits. Have a good look.

Anyhow I hope that I have been some help. I look forward to talking with you further. Keep your chin up.

Sincerely
Fiona

Thank you for your reply. My name is Tresa, my daughter's name is Avery. We live in the US. I have read through all the info on this site as well as Boys Town and it has been very helpful. Do you know where Harrison's bloods were sent to be tested? I found this website, which was developed at a University just over an hour away from us, but it doesnt say if they do testing or not http://www.geneclinics.org/profiles/bor/details.html I want to have everything prepared/ready to present before I go to the pediatrician.

Hi Tresa,

Harrison's bloods were organised by a Genetics Professor at Boys Town Hospital. We were able to get it done through them at that time as they were funded to research a project for BOR at that time. I am quite sure that they are not testing there at present but will be again in the future. I will have a look at your site. I think your doing a great job. Please feel free to ask any other questions and keep me updated with how you are going.

Best wishes.

Fiona

Fiona- I'm still busy searching and reading info. I have looked Avery's neck over multiple times and am happy to say I haven't found any pits. Are branchial pits always present with BOR? If they are not always present, I would like to have an answer prepared for the Dr when he says "well she doesnt have branchial pits, there's no need to test..." Her hearing test is on the 21st...I'm getting nervous.

Thanks, Tresa

Dear Tresa,

No the neck fistulas are not always present with people who are diagnosed with BOR. Unfortunately for us BOR comes with a very large amount of varied symptoms. I have now learnt of many cases but not one has been the exact same as another. They vary from 1 symptom to several symptoms. Your best bet would be to photocopy our page which has BOR info on it. The symptoms etc and take it along with you for back up.

Your her mother so do not feel bad to push further to find out more. It can be a hard road to travel but we are here to support you. Try not to get too anxious about her hearing test. Just wait and see what happens. It is great news for you that the neck fistulas are not present. That is one worry out of the way. They can also get infected easily and cause dramas. So strike that one off. Woo hoo.

Feel free to email me anytime. I will be sure to keep track of how you are going. I am always happy to answer any questions if I can.

Take care.
Fiona

Avery's hearing test went well. They did 3 different test and didnt detect "anything for concern". She will go back in a year for another test. However, she has her first pit infection We are going to the Dr later today to get it looked at. I wasnt able to get an appt with her pediatrician, but hopefully the on call Dr can do something.

Dear Tresa,

That is great news about her hearing but unfortunate to have an infection. I hope that you are all well otherwise.

Keep in contact.

Regards
Fiona

Just thought I would update quickly. Avery had a renal u/s on Monday. They determined she has 2 kidneys and a bladder (well duh!). Her kidneys are the same size and "appear normal". Its a relief to not have to wonder about her kidney's anymore. I still can't shake the feeling that something is just not quite right with her though. We are struggling with her weight gain, (she has dropped from 90% at 2 months to 40% at 10 months) and she is slow at hitting developmental milestones, a far cry from our other 2 children. Lastnight I was inspecting her pits and I think she is starting to get another infection. ugh!!

HI Tresa,

That is just fantastic news about Averys kidneys. Yes that is definately one less thing to worry about.

I hope that you are all keeping well. Keep in contact.

Sincerely
Fiona

Hi Tresa
I just read through your posts. I am with Fiona that it can be very frustrating. I am a nurse myself and my sons peditrician only sent us to a geneticist after a year of harassing her. As Fiona said Mother knows best. I think you will see among all the children many have trouble gaining weight. My son has been low weight forever. And they even threatened a feeding tube. I live outside boston, MA and we go to Children's Hospital in boston. they sent Jason's labs to Canada. I would ask the pediatrician to see a geneticist to have the gene tests. It can be a long road but I have found once you get all the tests done initially and doctors are lined up it is not so much.
Hope all is well
Pam
Mom of Jason 28 months old with BOR

Hi Tresa,

I was just reading through your posts and found something you said to be very interesting. My son also has BOR Syndrome (branchial cleft cysts, ear pits, and hearing loss but no kidney problems).

During my pregnancy with my son, I had too much amniotic fluid too. I didn't think much of it at the time since his kidneys appeared to be perfectly fine. The OB just told me to decrease my sugar intake. I did not have diabetes or anything, but did what I was told. The baby measured smallish (29%) and I had a very hard time gaining weight. I only gained 20 lbs during the pregnancy.

The prenatal sonograms showed no trace of BOR so we thought our son would be fine. However, when he was born it was clear that he had BOR after all. He had a kidney scan after birth and it was normal.

I wonder how common it is for babies with BOR to have too much or to little amniotic fluid? What's interesting is that my first baby, a daughter, had kidney problems from 20 weeks of pregnancy until she was born at 38 weeks (early because of the kidney problems)- when they spontaneously became normal. We thought she would have BOR, but she shows no signs of it. We have not had her kidney's checked again.

Strange...