Parents eGuide to Branchial Cleft Abnormalities now available!

Finally!  It's exactly what I would have wanted when I was starting our daughter's branchial cleft fistula journey... 

If your child has been diagnosed or you suspect he or she might have this congenital defect, The Parents' eGuide to Branchial Cleft Abnormalities is a great resource that takes you step-by-step through the process, including the 12 questions you MUST ask your child's surgeon and to expect pre- and post-operation.  Click on the Buy Now link to the right to get the eGuide emailed to you (*I personally email the eGuide, it's not automatic, so if you are in, say, Australia and it's 2 a.m. my time when you buy it, you might not get an email back from me with the eGuide until I wake up :)

I've been lucky enough to hear back from some of the eGuide buyers and here's what parent's just like you have to say about it: 

I just downloaded your eGuide and wanted to let you know that I greatly appreciate the resource.  My son is three years old and was just diagnosed with bilateral branchial cleft cyst and will undergo surgery on September 15th.  I would love to share his story afterward and help other parents who are going through this because the information out there is so limited.  Our family doctor didn't even know what it was and dismissed it and we didn't have it diagnosed until we switched to a pediatrician.  Anyway, I will be happy to share and thank you!  ~Genevieve

Thank you for putting together the guide, it's been very helpful.  ~Anton

Thank you very much for the email. Actually, I ordered the eGuide for my cousin who lives overseas and just had a baby boy with the condition (going to send it right now!). Thank you VERY much for sharing your story to the world and helping others who are in the same boat!! ~Gina S.

My wife and three week old son live in Melbourne, Australia.  I just wanted to say thank you for your time and resourcefulness in putting together your website on Branchial Cleft abnormalities.  I just purchased the eBook. ~Kashi T.

Our daughter is 1 week old and my wife noticed a small hole on her neck on day 4. We have seen the paediatrician and he diagnosed it as a branchial sinus. From what I can tell this is similar (if not the same thing.) We had an ultrasound today and should be seeing the paediatrician soon to confirm the extent and hopefully be referred to an ENT specialist. Very scary, and my wife isn't handling the thought of surgery very well. Your blog and eGuide gave us a better idea of what to expect, even though it's not what we were hoping. Thanks. ~Gianni 

Special Guest Mom Post: Stephanie S. from Nebraska

When we were still in the hospital after delivering our daughter, I noticed a little lump on her neck. I just thought it was something weird from delivery. At her 2 month check up I mentioned it to our pediatrician. She looked at it and said it was a cyst or clump of cells or something and wasn't anything to worry about right now. That maybe when she was older we could have it removed. So that was that. Or so it seemed.

Our daughter has also struggled with ear infections. So at her consult with the ENT to discuss tubes and arrange that, I had a thought in my head that since she is going to have to go under anesthesia, I best make sure this thing on her neck wasn't cause for concern. So I mentioned it to the ENT. After careful examination, she determined Camille had a Branchial Cleft Fistula. What on earth is that? Surgery? What? Dissect it out?! My world started spinning. We came here because of ear infections and got way more than we bargained for. She said Camille is too young to have the surgery in conjunction with her tubes and that around 1 or 2 years old, it needed to be taken care of. Surgically. I will add, it would "leak" from time to time. Not much, and until I learned what it actually was, I didn't put together that her fistula was leaking fluid and it wasn't just baby neck gunk. It has continued to leak at random.

When I left the ENTs office I started asking Dr. Google everything I could think of. Turns out Dr. Google doesn't have much information on these because they are so rare. I stumbled across Kelly's blog and want to share our story for any families out there who may be in the same boat. So consider this part 1. Coming up for us is a trip to the Mayo Clinic to meet with a specialist there. Thankfully we are only a short drive away from one of the best hospitals in the country!

**UPDATE**--July 29, 2019

I wanted to send an update on Camille.

We saw the specialist at Mayo Clinic in April. Dr. Cofer was wonderful and took all the time needed to explain everything and answer any questions. As we already knew, there is no easy or risk free way to determine the extend of the abnormality until they open her neck up and start to dissect it out. She said that full excision of the abnormality is a must and this can include a tonsillectomy and potentially even needing to remove part of the thyroid. This is all dependent upon the length and path of the tract.

Dr. Cofer said she ideally likes to wait until 3 years old. As the risk of anesthesia are less at that age. However, if she has an infection, this would require us to move up the timeline. So we need to watch it carefully.

Camille will be one next month. I am relieved we aren't needing to do anything immediately. I do also feel like it is always in the back of my mind to make sure it looks okay, watch for signs of tonsillitis or infection, and the stress and worry that comes with such a big operation.

More updates to come. I have attached a picture of what her branchial cleft abnormality looks like as a 10 month old. 

**UPDATE**--April 20, 2020

Camille is now nearing one and a half. She has had tonsillitis a time or two and we have had to watch her neck very closely to ensure it has not gotten infected. Thankfully it has not. Praise God. As a mom, every time I look at her neck, I try not to think to the future and her surgery. When I do, I envision my husband and I in the waiting room while she is away from us in surgery with her neck cut open and the worry that will accompany us in that waiting room. So a big goal for me is to not focus on her neck and instead focus on her contagious smile. 

Attached is a picture of the opening on her neck draining. Sometimes it gets kind of enlarged and I have been instructed to gently squeeze it to release the built up gunk. 

That's my update for now. Less than 2 years until until her operation. 

Special Guest Dad Post: Phillip S. from Newcastle, NSW, Australia

Hi Kelly,

Just a quick shoutout to say thank you for your blog on Branchial clefts. 

Our son Kingsley was born in Newcastle N.S.W Australia on the 8th of May, 2013. He was a perfect, healthy baby in every way. Not long after birth we noticed a small mark on the right hand lower side of his neck. We voiced our concerns and were told by doctors it was an in mature pore. We knew something was not right as every time Kingsley swallowed the small hole would pucker and pull inwards. After many  G.P. consultations, we had given up because no one knew what it was. 

Fast forward 6 years...we found an awesome ENT specialist by the name of Dr. Daron Cope from Hunter ENT who finally answered all of our questions. Kingsley was officially diagnosed with a Branchial cleft believed to be a second or third. On August 8, 2019 we had it surgically excised at Hunter Valley private hospital under instruction the lesion could have negative effects later in life. It was the biggest decision of our lives as the risk of complications during surgery although unlikely would have a significant impact on Kingsley for possibly the rest of his life. The surgery lasted 2 and a half hours and it was found that a Kingsley had a complete 2nd Branchial arch fistula that extended from the lower right hand side of his neck up through his internal and external carotid arteries and terminated into his tonsils. The entire tract was thankfully removed without any nerve damage.

My partner Dannielle and I would just like to extend our thanks to the information you shared to help us in our decision making and understanding of a family's first-hand account of a relatively rare occurrence.

Special Guest Dad Post: Don A. from Maryland (WARNING: graphic surgery photo)

Don A. from Maryland wrote to share some photos of his 3 year old daughter's procedure in May of 2018.  Fair warning, the first picture is from mid-surgery and could be considering graphic or triggering to some parents.  I actually think it's fascinating because it's so hard for most of us to imagine there's really ANYTHING problematic lurking behind that innocent, teeny tiny hole in their neck!  Thank you, Don, for sharing these incredibly personal photos.

Don writes:

My daughter just had the surgery today, at age 3.5, following recommendations to wait until anesthesia was less risky and before she went to school formally. My daughter had an opening in her neck.

I will need to admit first that my wife is a physician herself (ophthomology) and we live in the Baltimore area. This means we had access to knowledgeable parental judgement calls specifically for my daughter, and she was able to see a pediatric focused ENT at Johns Hopkins.

Now, my wife also had a branchial cleft cyst, without an opening and it ended up becoming infected around age 19. She had to undergo a speedy surgery. She did not get the right level of care at the time, because she was essentially premed, and one of the non-ENT surgeons she knew offered to do the it without charge. Because of the inflammation, they ended up getting too close to a nerve and she couldn’t feel her tongue for a month, although nothing returned.

The moral of the story is, in my opinion, to get it taken care of young, or else your child may have to deal with it with worse scarring later in life. Take the advice of a good, and not underworked ENT (so they won’t be trigger happy). Second, my daughter has larger tonsils, so there was a concern that she could have sleep apnea, and that the tonsils should come out too. She was recommended to do a sleep study, and even after watching many prep YouTube videos with my daughter, the sleep study was an amazing tramatic evening for my daughter. This was a couple weeks before the surgery, so going in, she was freaked out and it made the mental trauma of surgery even worse. So take good advice, and be warned that a sleep study is likely to make the before/after of the surgery worse.

PHOTOS: The surgery. Bottom right is the chin, and the bottom left is her left ear. Shows a double incision. First on top to cut out the opening of the tube/cyst. The second after they went up a ways cutting it out, located in a neck fold, to continue as far up as they could. In her case they cut it off at the tonsil, and the thought was that she shouldn’t have any recurrences from there. 

The bandage with a drain for 1 day

Link to article about cauterization

Thanks to fellow branchial cleft cyst parent Lindsay, who shared this with us:

Hi Kelly,

Thanks so much for this info.

We have been exploring options for our daughter who has a second brachial cleft cyst. We have explored open surgical methods with Children’s Hospital of Philadelphia. I also consulted with Dr. Murakami at Nationwide Children’s Hospital about the sclerotherapy option. Dr. Murakami counseled me to have a heart to heart with our surgeon to get a good picture of risk of nerve damage. After our discussion, I came across the article http://www.hopkinsmedicine.org/news/articles/less-invasive-surgery-for-branchial-cleft-fistulasand decided to schedule with Dr. Tunkel to discuss the endoscopic option he discusses in this article. Since then I read information about endoscopic removal (https://www.ncbi.nlm.nih.gov/pubmed/26466762)  and recently realized there is a difference between endoscopic removal and  endoscopic cauterization. Dr. Tunkel’s article seems to refer to the cauterization.  We plan to see Dr. Tunkel in March, and after I realized his article refers to cauterization rather than removal I am wondering whether or not my daughter would be a candidate for this option.

Anyone out there have experience with this type of surgery and its outcomes?  It's what I was thinking my daughter could have when our doctor told us pretty unequivocally that cauterization was a bad idea and he wouldn't do it, let alone recommend it.  Feedback, parents?

Special Guest Dad Post: From Down Under!

We get readers from ALL over the world on this blog, so I thought I would share an email I got recently from K., a Dad in Melbourne, Australia, who bought the eGuide in May and sent this response:

Hi Kelly,

My wife and three week old son live in Melbourne, Australia.  I just wanted to say thank you for your time and resourcefulness in putting together your website on Branchial Cleft abnormalities.  I just purchased the eBook.

We noticed a small pore on our baby boy’s neck shortly after birth, and just today we had my internet self-diagnosis confirmed by the paediatrician (who had only seen it once before).  Your website, and particularly the picture you recently posted (which is identical to my son’s), was helpful in making me seek medical attention.  Obviously few general medical practitioners have seen this before.  We’re very fortunate to have one of the world’s best children’s hospitals here, and we’ll be taking him to see a paediatric ENT specialist soon.  Being the paranoid person I am, I’m also getting a renal ultrasound done, because the little guy also has a small ear tag (which is quite common in newborns, but can be associated with the Branchial Cleft Sinus and also kidney issues).  Thankfully, in all other areas, he is a very healthy young man, putting on weight like a machine.

Obviously, like you, I was pretty freaked out by this, mainly because of just how incredibly rare a condition it is.  It is comforting to know that, while the surgery will no doubt be a very nerve racking process, it is not a life threatening condition.  Thankfully my wife is a much less anxious person than me, and is not too worried.

I look forward to reading your ebook, and when we do finally get through all this, I will let you know the details of our specialists to add to your database to help others.  I am sure at some point in the future, someone else from Australia will contact you like I have.

                                                                                                                                                            

I envy you for having put this all behind you!

All the best,

K.

And just today, I got a the "rest" of their story with a link to their Australian specialist:

Hi Kelly,

Thanks again for your website and information presented with a personal touch.

We are yet to send our little man through surgery, as we felt it was best to wait until he was over 1.  We also decided to seek a second opinion, because the initial surgeon we were referred was a general surgeon and not an ENT specialist, and while he did perform 3-4 branchial cleft sinus/fistula excisions a year, we wanted to talk to an ENT expert.

So we took him to see this doctor: http://entparkville.com.au/about-us/dr-sarah-morrison-2/

She was very knowledgeable, and performs approximately 6 procedures like this per year.  She also, surprisingly, said that our son's was more likely a 3^rd or 4^thbranchial cleft fistula based on its position on his neck, but that we wouldn’t know for sure until the surgery.  We are going to do a couple of ultrasounds to see if that helps determine which type it is.  According to the doctor, the treatment of choice is now endoscopic cauterisation from inside the throat for 3^rd/4^th types (but not for 1^st/2^nd).  This effectively prevents infection.  Is this consistent with your understanding?

I did some reading and did find a few scholarly articles to support this idea:  http://www.ncbi.nlm.nih.gov/pubmed/23128685

I guess we will wait and see what the ultrasound suggests, and whether or not there is an opening in his throat (which means it definitely is a 3^rd/4^th).  If there isn’t, we’ll have no choice but to do the full excision anyway.   My wife and I are obviously very anxious, but if we can do something less invasive that will prevent infection, then I think that’s an acceptable outcome.

Thanks again.  Your suggested questions were very helpful to my wife when she saw the doctor yesterday.

Regards,

K.

AND FINALLY, the resolution to K's story, March 18, 2016: 

Hello again.

I’m pleased to say our son had his procedure yesterday, and all went well.  I stayed in hospital with him overnight and we’re now home.  Turns out it was a 2^ndbranchial cleft sinus, which went up into his tonsils.  This meant that they did a complete excision rather than the cauterization technique I mentioned would have been possible with a 3^rd/4^th fistula.

He had a single incision on his neck, which looks very similar to the post-op photo of your daughter.

Thanks again for taking the time to create your website.  It was the photo of the “pore” on your daughter’s that made me go and seek a specialist opinion for our son, so if it wasn’t for that we may not have done anything about it until he had an infection (which he thankfully never had).

If you get any other inquiries from Australia/Melbourne I’d be more than happy for you to pass on my email address.  We’re blessed to have one of the best children’s hospitals in the world, and a public health system that makes all of this free, including my own overnight stay (parking was my biggest expense).

Thanks again.

K

Special Guest Mom Post: Ahlea's Story

I'm excited to share another mom's branchial cleft fistula story here on the Branchial Cleft Abnormalities blog.  Thanks Ahlea, and remember to check back in with us in December to report how the removal surgery went!!

I'm trying to build up the blog with more stories/pictures of real experiences by parents.  If you would like to contribute a blog post reflecting on your child's journey, please write a short summary of your child's case, how it was resolved and which doctors/hospital you used, advice you would offer other parents and before/after/AFTER surgery pictures.  Our community of parents who visit the blog (like you did!) for education and a "real world" view of their child's condition and what to expect would thank you! 

AHLEA'S STORY: When my little girl was 2 days old I noticed a pore on her neck. I mentioned it to our pediatrician and she ordered an ultrasound. At her 2 week appointment the pedi told us she didn't see anything but she wanted to have an ENT take a look at it. 2 weeks later we met with the same ENT that put tubes in my sons ears and took out his adenoids. She is the one that diagnosed my daughter with a branchial cleft fistula. She gave a very vague description of what it was then mentioned removal. Honestly, the moment she said the word surgery I went blank. I don't remember one word she said after that. 

We live in a small town and our hospital is a small county hospital that isn't very advanced. I loved the ENT there but had no idea what was going on with my girl. She gave me a referral to an ENT in Champaign, IL at a bigger hospital. We got a better idea of her condition. However, I wasn't comfortable with the guy we met. He told us he would want to remove it within 3-4 years but by 10 at the latest. This was the day I turned to Google. I still didn't completely understand her diagnosis but definitely should not have tried to get more information on my own. And that Images button! Oh don't even consider it! When she was 3 months old she got RSV and there was green goo coming out of her neck. They didn't seem concerned but it freaked me out.