thecainfoundation

Hi, my name is Lou and I live in Peoria, Illinois but am originally from the UK. I am married to Stephan and we have 3 wonderful kids; Molly will be 9 in Aug, Isabel will be 6 in Nov and Finley will be 2 mid July.

Here's my journey to arriving here:
My eldest daughter Molly was born without problem, she had a small skin tag on her ear which dropped off within a few days of birth and she has a little extra 'bump' on the front of her ear and for the first couple of months of life we were very careful how we lay her down as she had 1 ear that bent over, which corrected itself. And so we thought no more of it.

Isabel was born without incident.

Then my little man arrived! His delivery was somewhat traumatic, he suffered a broken collar bone and bells palsy (we think) and still has an asymmetrical crying face. His Ped picked up an ear pit and told us it can be a sign of hearing loss or kidney problems so as he'd already passed his newborn hearing test they sent him for a renal sonogram. The sono showed that whilst he has 2 kidneys one is smaller and located in his pelvis. They also conducted a VCUG to check that his bladder was draining properly and not back into his kidney and this was fine. So we were scheduled to see the renal specialist at 6 mths, 12mths & 18 mths for a sono to check that both kidneys were growing at the same rate. So far so good, but due to 2 house moves in 3 months we missed the 18 mth sono and are scheduled for the end of Aug. Anyway, I digress, I had noticed 2 little pin prick holes on either side of Finn's neck but really wasn't concerned and kept forgetting to mention them At 3 mths Finn had an MRI as his Bells Palsy 'droop' wasn't improving and the neurologist wanted to check there was no other issues. The MRI results were normal but after having the breathing tube I noticed that there was some fluid secreting from one of the little holes. So back to the Ped we went and he diagnosed them as bilateral branchial cleft fistulas possibly with cysts. So we made our first ENT appointment. As Finn was so young the ENT said treatment is removal but he would prefer to wait until Finn is about 3 yrs. In Oct 08 Finn had a CT done as the cysts were continually getting infected and as the drainage smelt so bad I was concerned that if they were draining internally he would end up with some awful infection. The CT showed that the cycst/fistulas had long tracts but they were sure that they are only draining externally. Finn has also had a blocked tear duct since he was born, but we opted not to have surgery because we felt it was 'only a blocked tear duct' and that he really had enough to deal with.

Sorry I didn't realize my story was so long! Finn has also been very slow to talk, which we put down to being no. 3 and having 2 very talkative big sisters! However we finally decided we needed to start going down the route of speech therapy and as a precaution we requested a hearing test - despite family and friends claiming he was just a regular boy going through the terrible twos - we both had a gut feeling that something wasn't right. Anyway we had the hearing test earlier this week and although they couldn't give us too much info he does seem to have mild to moderate hearing loss in both ears (and a large build up of wax in one) Upon receiving the report our Ped (who is new - our old one just left) she has referred us for further hearing tests with our ENT and for genetic testing for BOR. I immediately looked it up on the internet and rang my husband to tell him as it seems to connect all the dots. So here we are!

We have started speech therapy too and are now busy learning as many signs as we can in an effort to ease Finn's frustration at not being able to communicate and he is doing so well We see the ENT on July 22nd and I can't wait.

I feel confident that Finn will be diagnosed with BOR and bizarrely pleased that we actually have a name for all that is going on with him and that I'm not some crazy over the top Mum!

Hi Lou,

Thank you for posting your story. I am sure Fiona will be very keen to talk to you, she's the creator of this site. I think she's on holidays and her Son Harri has been unwell as well, otherwise I am sure she would have welcomed you already .
This website has been very helpful when we found out that our son has BOR, he's almost the same age as your little one (and a handful It sounds like everything is happening and you are getting some more information now you have a new pediatrician. There is lots of info on this site and lots of people to talk to .

good luck with everything, would love to hear any updates.

regards to you and your family, Sandra (Australia)

Hi Sandra

Many thanks for the welcome! I have actually caught up with Fiona via Facebook, I added the Cain Foundation as a cause and have chatted a little with Fiona via facebook e-mail.

We have no updates as yet, we still waiting for our ENT appt to roll around and feeling a little frustrated that there isn't anything we can do to move things forward more quickly. We are also still waiting on our appt to come through for genetic testing but I'm not so concerned about that right now. In the meantime we've been busy learning some basic baby signs and with the whole family doing it it is already making life a little easier, Finn doesn't seem to be resorting to hitting out of frustration half as much which is a good thing!!!

One question I do have is regarding his branchial cysts & fistulas - our ENT wanted to wait until he was physically bigger before removing them but I am concerned about the fact that they are permanently infected and I really hate giving him such regular high dose AB's. Does anyone on here have experience of having cysts removed as well as fistulas? And at what age did you have it done? I'm looking for info to take to my ENT so that he can see I know what I'm talking about and not get bulldozed with medical jargon!

Many thanks
Lou

Hi Lou,

Glad to hear You've already spoken to Fiona, Isn't facebook great, I love it
My son still has his neck fistulas, he only has one of them and is in a more unusual place on his neck (at the front, very low just above the collarbone). We were told that there is no need to get it removed because it isn't infected it never has had any discharge coming out.
We have asked to have it removed, but they want to wait till he's over two as he has a small hernia above his bellybutton that needs a small operation as well and they want to do both things at the same time.

If it had been infected they would have removed it along time ago! We were told that the infections will cause some scare tissue and that this will make it harder to remove. I think most children have them removed at about 6 months of age.
Because your son's fistulas are infected all the time I would ask the doctor to have them removed as soon as possible.

This is only my opinion.Why are the doctors waiting to have them removed?

take care Sandra

HI Lou,

I have just read over your conversations with Sandra. She is great. I so love being able to chat with others going through the same situations we are.

I can fill you in a little about the neck fistulas and ear pits removal. Harrison had both of his, 2 ear pits and 2 neck fistulas removed at 6 months old. It was both the best and worst thing ever. The only reason it turned out to be bad for us was that Harrison was THE WORST feeder in the world!!! He would fuss incredibly at bottle times and it always proved to be a fight. He went in for the day surgery and the surgery itself was quick and easy. They were very happy with it. But when he came out of the anesthetic they gave him a bottle straight away - Hang on - I forgot to mention he had a very little tongue tie that they said they would snip while he was getting the surgery done. (Big mistake) so back to the story, when he came out they quickly gave him a bottle thinking he should just start drinking and wake up like any normal child but it obviously stung his little snip and decided NOT to drink again for about 2 weeks! Our story is actually written in full on the site. Other than that happening - the actual surgery for his neck and ears went brilliant. They healed very quickly, we have never had problems since. There is only the smallest mark from one neck fistual and his ears you would never know. If we didnt have the tongue tie done at the same time this would have been an in and out surgery. I think getting them removed was the best thing. We have avoided infections and all the other stuff that goes with it. I would recommend you get it done the earlier the better. Especially with all of these flus etc around these days. You have enough to worry about i say.

I am keen to know more about who you will be getting your genetic testing done with?

Anyhow welcome to the site and I hope this helps you out a little. Look forward to hearing back from you.

Sincerely
Fiona

Hey Fiona

We finally have our ENT appt tomorrow and I can't wait - I feel likes it's been a long wait, just hope that we actually accomplish something while we're there!

We have also finally got our appt scheduled with a genetics specialist and we'll be seeing Dr George Hoganson. We have to travel up to Chicago to see him which is about a 3 hour drive for us, but fingers crossed if he agrees to test for BOR (the genetic councillor that I've already spoken to said it would be highly likely) then we can have the blood drawn at our local hospital as our insurance won't cover any 'services' out of our local network. I also understand that our nearest place that tests for BOR is the University Hospital in Iowa.

Speech therapy is also going pretty well and Finn (for a two year old!) is being fairly co-operative! I rang my hubby at work because he actually said 'Thank you' and it was clear as day! Yay!!!!

I think that his hearing is really fluctuating at this point because one minute he'll be really attentive and interactive and then it's like he just shuts down for a little while and then just as quickly he's back! Well, that and he's already sussed that if he doesn't look at you he can ignore you!!! He is however, picking up signs very quickly so life is getting a little easier every day!

I'll post tomorrow and let you all know how his ENT appt went!

Take care all
Lou

Hi Lou,

I am so glad that things are getting a little easier for you and your family. I am so glad that you went to see the speech pathologist it is clearly helping Finn to communicate much easier, imagine how frustrated he must have been getting. It should only get easier for you all now, even exciting as he is starting to talk more. Well done!

Yes I hope you get some good news from your ENT. We were told Harri was born with a mild hearing loss and that they don't think it will get any worse. (I beg to differ - i hope they are correct though). I have noticed lately that Harri has been saying "What" a lot lately, it drives me crazy - mind you i think all men say it - but I have noticed a change in him saying it much more. I hope it is nothing. His last hearing tests were only a couple of months back so I don't want to take him in again yet. I'll just keep an eye on it.

Please let us know how you go today. Best of luck.

Fiona xo

So, I hope no one minds to much if I vent a little!

I was so pleased that we were finally taking Finn to see his ENT with regard to his recently diagnosed hearing loss and even felt excited that we would be starting on the path to hopefully improving his hearing so that his speech would naturally start to improve and his frustration would continue to diminish.

However, my positive attitude stopped about 10 mins into our appt. when having talked about Finn possibly having BOR - which I felt like the Dr just blew it off as pretty much irrelevant (in fact he stated that you know you've made it in your field when they name a 'syndrome' after you!) and then we talked about Finn's branchial cleft cysts at which point I interrupted the Doctor to say that yes, whilst that was a major concern of ours our reason for todays visit was to make a plan relating to his hearing loss and then to talk about possible removal of the cysts. At which the Dr looked blank and said he had no idea that Finn had an issue with his hearing! No one from our Peds office had bothered to fax the results of his initial hearing evaluation to the ENT's office - I can't even put into words how fed up & upset I am about this . I have just called my Ped's office and surprisingly they say they sent it! So obviously I'll never know either way.

We did however manage to 'persuade' the Dr to remove the cyst that is continually infected but he wouldn't agree to take out both so the second will have to be done at another time. He will also be removing the wax build up that Finn has is one ear when he is under the anesthetic. We did also speak to another audiologist at his office regarding further hearing tests for Finn and she wanted to conduct them after the wax had been removed, but unfortunately the next available appt the ENT Dr had was Sept 21st so I said I really didn't want to wait that long and she agreed to do some testing before. So he has another appt in August and the ENT Dr has already signed a hearing aid approval form so that if that is required we don't have to go back to see him for a signature.

So whilst we have made a little progress I feel very disappointed as I already feel guilty for not picking up on the hearing loss sooner and every day that we have to wait for further appts is another day that I could have prevented if I'd spotted it earlier.

...........thanks for listening!

Dearest Lou,

This is soooo not your fault. BOR Syndrome has a huge range of symptoms. You said that it is only recently that you found out the Finn may have BOR! You are lucky that he has been diagnosed early rather than later. I know an aweful lot of people who were not diagnosed until they were adults simply because Doctors do not know enough about BOR. Be grateful you have an answer and now unfortunately we have to wait long periods to start moving forward again. I so get it! Feel free to vent - this is why we are here.

Keep doing what your doing with your speech and signs you are doing a wonderful job.

Please keep in contact and let us know how Finn is progressing.

Best Wishes.