Hurry Up and Wait (FAP - Part 2)

If you haven't already, read part one here.

Up until this point, Jerry and I kept Wesley in the dark about our FAP concerns. We didn't want him to worry unnecessarily. Even at this point we didn't tell him everything, we told him we thought maybe something else was going on and we wanted to see another doctor.  

Thankfully, we only had to wait a week until the GI specialist appointment. This time Jerry and I took Wesley together. Filling out the paperwork we didn't check off any of the GI problems listed on the history form. Wesley had no issues - no pain, no bleeding, nothing. It was strange taking your seemingly perfectly healthy child into a GI specialist to say we're here because of these two odd (non GI) symptoms and mom's intuition. 

We were called back to the exam room where we met Dr. B. He was a nice (young) guy. He didn't act like we were totally insane when we told him our concerns, but I also didn't get the feeling he was convinced Wesley had this condition. Fortunately, this disorder does have a simple genetic blood test available. He said he would order the genetic testing to help us find out for sure.

Unfortunately, genetic testing sometimes doesn't have hard and fast results. There are variations of FAP and not all of them show up in the genetic testing, so a negative result didn't necessarily mean he doesn't have the disorder. Wesley could have a version they haven't mapped the gene for yet or we could have a false negative. We could go through the testing and still not get a firm answer. It could be that these two odd things are just weird, unrelated quirks. That was our prayer!

The doctor said he would "clinically follow" Wesley even if the results came back negative. This meant even if the results came back negative Wesley would probably be scheduled for a colonoscopy at some point. Personally, even with negative results, I wouldn't feel like Wesley was "in the clear" until he is 30 years old and had no polyps. 

We didn't know it at the time, but Dr. B's main nurse was out of the office that day. The nurse or assistant who helped us didn't know there were some special instructions for ordering genetic testing. We didn't follow the correct procedure and it would end up delaying the whole process. Not knowing this, Jerry took Wesley to the lab to get his blood drawn. We knew it may take "up to a month" to get the results so we waited patiently. When a month had passed and we hadn't heard anything we called. This is when we found out the tests weren't ordered correctly. One test came back showing "no deletions or duplications" (which was good!), but the other tests were lost. For those we had to start all over. 

Since we were starting all over the nurse suggested we get pre-approval from our insurance since genetic testing is expensive. That delayed things even more - Jerry had to call several times to get the right info either to or from the doctor to the insurance. Eventually, we did get approved and took Wesley to the lab again. Then we had to wait "up to a month" again for the results. 

A few weeks in, the preliminary results were showing some abnormal results. The nurse said Wesley was "at increased risk" for FAP. Based on that, the doctor suggested we schedule an endoscopy and colonoscopy. The only way to know for sure what was going on in there was to take a look around. Once again, this wouldn't necessarily give us a final answer. If they went in and everything looked good it was no guarantee that it would be that way in a year or two or ten. Either way we would just have to be patient and take it one step at a time because it could be years before we have a firm answer either way.

The colonoscopy was scheduled for December 11th. I couldn't send Wesley into a colonoscopy without explaining why so I sat down with him and explained everything as best I could in a kid-friendly way. He was pretty upset and even hyperventilated a little bit. At that time he was more worried about getting another IV than anything else (thanks CT scan guy!). The more he thought about it though, the more questions he had. I answered them as best I could. Unfortunately, no one could answer the question we all wanted to know the answer to... does he actually have FAP?

Then they called and bumped the colonoscopy back a week to December 18th. Great. More waiting!

Go on to part 3...

Begin at the Beginning (FAP - Part 1)

"Begin at the beginning," the King said, very gravely, 

"and go on till you come to the end: then stop."

- Lewis Carroll, Alice in Wonderland 

I guess the best place to begin this post is the beginning. Fair warning though: this will be a multi-post story, so sorry in advance if it runs long or I leave you with a cliff hanger at some point.

The very beginning of this story is a regular eye exam for Wesley back in 2008 or 2009. It was his first. Everything was fine, no prescription needed, but when looking in his eye the doctor mentioned he had a birthmark called a CHRPE (pronounced "chirpy") on his retina. CHRPE stands for congenital hypertrophy of the retinal pigment epithelium. The doctor said they weren't too common and it was good to know he has had this since he was a child because when he sees a CHRPE in an adult he sends them right to a GI doctor because they almost always have colon cancer. In Wesley's case though, he was just born with it and it wasn't a concern.

Fast forward several years... near the beginning of this year, Wesley noticed a small bump on his jaw back near his ear. I wasn't too concerned. It didn't bother him at all. It was hard and immovable so I was pretty sure it wasn't an infection or something going on with the soft tissue. We decided to just keep an eye on it for a bit to see if it changed or went away on it's own.

When it came time for his well check in June we asked the doctor about it. He wasn't sure what it was either and decided to refer us to an ENT doctor. Jerry took Wesley across town (the ENT would only see first time patients at his home office) for the appointment. The ENT didn't give us an exact name for the bump, he said it was probably just a "benign bone growth" and he wanted to do a CT scan to be sure. I googled several variations of "benign jaw bone lump/growth/tumor" and came up empty handed.

The CT scan was scheduled for July 29th, and since the scan was closer to home, I took Wesley this time. When we checked in at the hospital, they gave us some paperwork. I looked at it and was interested to see this benign bone growth did have a name: osteoma. I snapped a photo of the paper so I could remember the name and made a mental note to look that up when I got home.

The photo I snapped while waiting to go into the CT scan

[Side story: The CT scan was ordered with intravenous contrast so Wesley had to get an IV. It was not a very good experience. The tech wasn't the greatest and struggled a bit to get the IV in before finally calling a nurse to do it. By then Wesley, who was already nervous, was pretty upset. The nurse got the IV right away and the scan was over in a few minutes, but the whole experience left Wesley with a new hatred of IVs!]

Later that evening, I sat down and googled osteoma. Of course, the top hit was just a generic page on Wikipedia. There wasn't much info and the little that was there pretty much said what the ENT had said - they are a "benign neoplasm" usually with an unknown cause. No big deal. Then it said "Osteomata are also found in Gardner's syndrome." So I followed the hyper link to "Gardner syndrome" and went down the rabbit hole.

I had never heard of Gardner syndrome before so I started reading. Nothing really caught my eye, but I kept reading anyway because I'm a sucker for interesting medical stuff. When I got to the part about diagnosis I couldn't believe my eyes. It said:

Gardner syndrome can be identified based on oral findings, including multiple impacted and supernumerary teeth, multiple jaw osteomas which give a "cotton-wool" appearance to the jaws, as well as multiple odontomas, congenital hypertrophy of the retinal pigment epithelium (CHRPE), in addition to multiple adenomatous polyps of the colon.

People with Gardner syndrome can have both osteomas of the jaw and CHRPEs? What are the chances Wesley also had both these two weird things? I told Jerry about what I read and he said we should be sure to ask the ENT about it at our follow up appointment.

I started researching more about Gardner syndrome. The more I learned the more worried I got. Gardner syndrome is a subtype of familial adenomatous polyposis (FAP). The main issue with FAP is that it causes lots (like hundreds and eventually thousands) of polyps to form in the colon at a very young age. That many polyps, if left unattended, have a 100% chance of turning into colorectal cancer. There is no cure. The main treatment is to have the large intestine removed so the polyps never have a chance to become cancerous.

There were several nights I stayed up reading all I could find about it online and then I couldn't sleep. The follow-up with the ENT couldn't come soon enough. My fear was that the ENT (having never heard of this rare disorder) would tell us not to worry and send us on our way. And that is exactly what happened. The ENT doctor said the CT scan showed it was just a benign bone growth and not to worry. Even when we asked him outright if it could be a sign of something more serious or related to colon cancer, he said it wasn't.

Now what? I wasn't sure what to do. I didn't want to be accused of fabricating an illness and seeking unneeded medical attention. Parents get their kids taken away for things like that! (Munchausen by Proxy Syndrome, anyone?) But I also could NOT just ignore these two symptoms knowing that if it was this rare disorder Wesley could be developing colon cancer right this very minute. So, I followed my gut and emailed his primary doctor. Knowing how doctors feel about patients diagnosing themselves with Google, I carefully worded my my email. I just laid out the facts and let him connect the dots. He emailed me back the next day saying he was "impressed with my research" and gave us a referral to a pediatric GI specialist.

That made me feel much better! I was so thankful that he didn't just brush me off as some crazy Googling mom! We made the appointment with the GI specialist and waited.

Go on to part 2...