Parental Googling--AKA, a doctor's worst nightmare

Yes, I've become "that mom"...a week has passed since we heard Kate would need open-neck surgery on her branchial cleft fistula.  Now that I have had some time to think about it, I'm flabbergasted the best treatment for this is a one-inch incision to remove a 2 cm tract.  Really?  I had to do some investigating.  I found two interesting studies, both by Texas doctors who had done a cauterization on the tract.  I'm not 100% sure either of these findings exactly parallel what Kate has, since the terminology starts to swim around on me a bit, but it seems at least worth investigating further:

 
Endoscopic cauterization of fourth branchial cleft sinus tracts.

AND:

Periform Sinus Tracts in Children

So, I did what any slightly obsessive, over-protective mother would do--I contacted both these doctors and asked them more.  Dr. Green and U-M both have my fullest confidence, and if we need to do the full surgery, they're getting our business.  I just need to know I have exhausted every non-invasive, progressive option that exists and made sure it is not a fit for Kate's particular case.  Who knows, perhaps our family will pioneer the technique of cauterizing, not surgically excising, these branchial cleft abnormalities at University of Michigan hospital!!??!

Types of branchial cleft abnormalities

The Children's Hospital of Boston has an easy site on branchial cleft remnants.  There are four kinds of branchial cleft abnormalities, as described by the site:

1. First branchial cleft anomalies are rare, but do occur as cysts that lie in front, behind, or below the earlobe or under the jaw. A first branchial sinus has an external opening below the jaw and above the hyoid bone (a bone present in the neck just above the voice box).
   
2. Second branchial cleft sinuses occur as sinus tracts with an opening on the skin of the neck during the first 10 years of life, and as cysts during the second 10 years (see Figure 1). A skin tag or abnormal cartilage may occasionally be present at the opening of the sinus, and occasionally the tract may be felt as a band in the neck.
   
3. Third branchial cleft sinuses are extremely rare and are often located near the thyroid and along the front part of the muscle in the neck which attaches to the collar bone.
    
4. Fourth branchial cleft sinuses are also rare and are located low in the neck similar to the third cleft sinuses.

Dr. Green suspects Kate's is a second or third, likely second.  The ultrasound done on her at two weeks indicates it is suspected fourth, but Dr. Green is more experienced in branchial cleft abnormalities than the radiologists and doubts it is a fourth.  In fact, he said he had only seen one true fourth branchial cleft sinus in his lifetime and he said they are "a bear" to remove--they wrap down around the heart!  This would be a very grave prognosis and require (I am guessing) open chest cavity surgery.  We are prayerful it is not a fourth and perhaps even a very simple second that can be removed through the pin-hole opening only (no inch-long incision!). 

To determine where the tract goes, he will make a small cut on the opening and clamp the tract with a surgical clamp.  Then, he pulls!  He said you can see where the tract is by where it tugs on the skin.  This very low-tech method determines where and how he cuts next. 

Since we're discussing the rarity of the fourth type of branchial cleft abnormalities, it's worth discussing how rare the existence of any type at all is.  They do run in families (as ours does--my brother also has a long-closed mark on his neck!) but are only seen in a small percentage of children.  When she was diagnosed in the hospital at two weeks old, we had a contingent of medical students and residents tramp through wanting to examine our daughter's neck.  It seems that while branchial cleft abnormalities are something they all learn about, they rarely get to see one in person (lucky us!)  In fact, Dr. Green said he is referred cases from around the state of Michigan and the ENT department at U-M still only does about three or four branchial cleft cases a year!  Too bad we aren't as lucky in the lottery as we are in acquiring odd medical conditions...

A cyst is a cyst, until it's a fistula...

We met today with University of Michigan's Pediatric Ear, Nose and Throat specialist Dr. Glenn Green. He taught us that Kate's branchial cleft cyst is actually not a cyst but a fistula. Here's the difference:

• cyst--an enclosed structure, with no openings
  
  
• sinus--a structure with one opening, perhaps internally
  
  
• fistula--a structure with two openings, one internally and one externally

So she has a branchial cleft fistula, at least 2 cm. long internally from the ultrasound (they lost the tract on the ultrasound screen after that, so we really don't know how much longer, if any, it is) Dr. Green told us that the only treatment for a branchial cleft cyst (or fistula) is surgery, and unbelievably in this day and age, it still requires a GIANT neck incision. At least, this is what I heard. In reality, the incision will be about one inch (but that's giant on a baby girl's neck, don't you agree?) I was heartbroken about the severity of the surgery (1.5 hours long, general anesthesia, slicing my baby's NECK WIDE OPEN, risk of permanent nerve damage to the tongue and/or tonsil removal mid-procedure, overnight stay at Mott Children's Hospital, resulting inch-plus scar on my perfect child).

This was clearly MUCH more than I anticipated. I burst into fearful tears. All that for what appeared to be a pin-hold size opening on her neck? Was this worth it? Could we leave it? I likely had a branchial cleft cyst (closed, but still...), I had made it 32 years without an incident. Dr. Green insisted that within 7-13 years the fistula would swell and then require multiple "ladder" incisions on neck skin that is much less pliable than hers is now. And of course, the danger of infections in the neck can't be understated. We will have to remove this soon.

This is where I must question modern medicine--you can laproscopically remove a woman's uterus but you can't remove a 2 cm. cyst in a baby's neck without an inch-long incision? It doesn't seem right. If anyone knows of a less-invasive procedure on a branchial cleft cyst, please share!

We have scheduled Kate's surgery for September 2010. In the meantime, I will continue to learn as much as I can about branchial cleft fistulas and hope that hers remains safe until then.

A Branchial Cleft WHAT?

We finally met with the University of Michigan's Pediatric Ear Nose and Throat specialist who could tell us more about the procedure related to Kate's branchial cleft cyst. But of course, our story doesn't start with the ENT consultation yesterday; it began 10 months ago, on the day our baby girl Kate was born...

She was perfect in every way, but I am an overly observant (DH would say "nit-picky") mother so I continued to look her over. I noticed, during our first night at the hospital, she had a small open pore at the base of her neck. It seemed to be "leaking" and then crusting over. I thought it odd but newborn skin is notoriously "acne"-prone due to the birth hormones so I assumed it would quickly resolve. Over the next two weeks, it would occasionally leak small amounts of mucus-like material, which would crust on her shirts (pretty gross). On her two week birthday, she fell ill with a high fever and was hospitalized at University of Michigan's Mott Children's Hospital for several days. In my quest to discover the source of the fever, I mentioned to the doctor this tiny pore on her neck that seemed to still be leaking on and off. This bit of information drew immediate attention, to my everlasting surprise. The staff suspected the "open pore" might be the end of a thyroidal cyst or tumor. Okay, now you have my attention! They sent her for a neck ultrasound and discovered it was likely a branchial cleft cyst, a congential defect that wasn't causing the fever (which did go down) but WOULD continue to be a health concern and require surgery at a later date. HUH? I was flabbergasted.

Kate's "pore" was really the opening to a branchial cleft cyst running vertically up her neck. We were told it would never close on its own now that she had been born and could, if left, become infected someday and threaten her nearby carotid artery. This birth defect runs in families and is otherwise benign. And then, it hit me--*I* had the remnants of a branchial cleft cyst on MY neck! A small colorless mole on the base of neck that I had had as long as I could remember was likely a branchial cleft cyst that had closed off before my own birth. And my older daughter had an identical mark on her neck, similarly closed before birth! So at least we know which "nit-picky" mother is to blame for this condition!

Fast-forward 10 months, during which Kate's pin-hole opening on her neck continued to leak fluid occasionally. The leakage seemed worse in the days before she came down with a cold (we learned that upper respiratory onset can exacerbate branchial cleft cysts, so this makes sense). But typically, we only noticed it leaking once a week or so. However, I could only imagine our beautiful daughter as a teen, preparing for prom and worrying about pus leaking out of her neck. If for no other reason, removal of the branchial cleft cyst was going to be necessary, and I know she'll thank us later. Details of our ENT consult in the next post...