FAP Update - October 2016

After a LONG wait, we finally had an appointment for Wesley with the genetic counselor and doctor team on Thursday, October 6th. I, personally, found it very interesting. (Wesley didn't!) I think they found US interesting as well. They usually help diagnose conditions like FAP in families so it was a different for us to go in knowing the genetic results already. They pretty much confirmed what we expected... they don't THINK Wesley inherited the FAP from me or Jerry, but the only way to know for sure is to test. So that is where we will start. If Jerry and I both test negative we will not test the rest of the kids as the chances of them having it are just about zero. If one of us tests positive, we will have to move quickly to get treatment. We'll start with getting insurance pre-approval for the testing and go from there.

The most interesting part to me was getting their help with interpreting the genetic testing results. There was a small piece of info in the results that I didn't realize was there. They know the exact spot on the gene where Wesley's genetic code went wrong. The gene runs from 0 to 1500 something. Wesley's error is at the 554 spot. They have actually done some studies on symptoms and these numbers. With his number, Wesley is in the middle range for time of onset of symptoms. Not surprisingly, he is in the number range where it is more common for patients have CHRPEs. It's fascinating to me that they figured this all out and have studied it. Apparently, people whose error is at 1309 have very severe and early symptoms so we were thankful to know that Wesley didn't have an error at that position.

So, in the next few months Jerry and I will have genetic testing done. Now that they know the exact spot of the "error" they can just go right to that spot on our genetic code and look. Wesley's next colonoscopy is scheduled for January 13th. We will know more about how to proceed once we know those results. Please continue to keep us in your prayers!

FAP Update - July 2016

We had a follow up appointment with Wesley's GI doctor today. Last week, he ordered a thyroid ultrasound because FAP can cause cancer in other parts of the body, including the thyroid. The ultrasound was completely normal. It is something we will continue to check up on periodically.

The doctor didn't really have any new information for us. Thankfully, he agreed to schedule Wesley's next colonoscopy in January so we don't have to worry about it at Christmas time. He asked if we had gotten a second opinion, which we have not. We don't doubt the diagnosis. I think the second opinion will come in regards to the timing of his colectomy. He also asked if we had started the process of genetic testing for the rest of the family, which we have not. Although Jerry has called a few places. Genetic counselors are, surprisingly, hard to find even in a big metro area like Phoenix.

We will have to wait and see what the next colonoscopy shows before we make any surgery decisions. The average age of colectomy for FAP patients is late teens or early twenties. It seems those who know about it early tend to have the surgery earlier. I would like Wesley to keep his colon as long as possible, but the doctor reminded us they "are in the business of saving people, not colons."

I did ask him about a medication I had heard about called Sulindac.  They usually give this to patients after they have their colon removed to help prevent polyps forming in the remaining parts of the digestive tract. However, there have been a few studies that showed fewer polyps in people who took it who haven't yet had surgery and I wondered if it was worth a try. It is not a cure. Just a possible way to slow down polyp growth. The doctor had heard of it and didn't think it would really help, but since the medication has basically no side effects (it's in the same family as ibuprofen - NSAIDs) he was willing to let him try it. So we got a prescription for that.

Wesley is feeling great. No issues at all, digestive or otherwise. According to today's measurement, he is 5 feet 7 inches tall! He will be starting his homeschool high school journey in a few weeks. Please continue to pray that he stays healthy and that it will be abundantly clear when the time is right for us to move forward with the colectomy.

The End for Now (FAP - Part 5)

Wait! Have you read the other posts? They are here... part one, part two, part three, and part four.

We got a call on December 23rd that that the biopsy results were normal. No dysplasia or cell changes at this time. That was good news! It doesn't mean he won't need surgery, it just means he doesn't need surgery immediately. The doctor wants to see Wesley again in six months to see how things are going and to check his thyroid and liver. FAP, especially Wesley's type, can have other non-colon issues like cancers of the thyroid and liver. The chance is small, but a greater risk for him than someone without FAP.

I asked the doctor if it would be "straight forward" from here on out now that we know for sure Wesley has FAP. He said no, nothing is straight forward about this. It is a rare and unpredictable disorder. He only saw it twice when he was in school and Wesley is his first patient to have it since he has been a doctor. There are doctors who specialize in FAP and other hereditary colon cancer disorders and he wouldn't be offended at all if we wanted to get a second opinion from one of them.

So, where do we go from here? The next step is meeting with a genetic counselor. FAP is usually inherited, although about 30% of cases are spontaneous gene mutations. We are pretty sure that neither Jerry or I have it because we would already have colon cancer if we did, but it is pretty much standard to have the whole family (parents and siblings) tested when there is a known affected family member.

Beyond that, Wesley will have another colonoscopy in a year. We will see how many polyps he has at that time. When there are more polyps than the doctor can remove during a colonoscopy then it will be time to think about a colectomy (colon removal). Our goal is to keep him whole as long as possible without putting him at risk for cancer. Every FAP patient is different and there really is no exact timeline.

Please let me know if you have any questions. I know this was a lot to read and take in especially for those of you who had no idea this was even going on. Thank you for "listening". Now that I'm all caught up, I will post any updates as they happen. Prayers, especially for Wesley, are always appreciated! The prayers we have received up to this point have made a huge difference! No matter what we know God is in control of it all and He knows what He's doing!

If you want to read more about FAP, here are some links for you:
Familial Adenomatous Polyposis (MD Anderson)
A Patient's Guide to FAP (HCC Takes Guts)
Gardner syndrome (cancer.net)
Familial Adenomatous Polyposis (cancer.net)

If you want to read more about hereditary colon cancer disorders (including Gardner syndrome and FAP) visit HCC Takes Guts. The gentlemen that runs this website calls people like Wesley cancer "pre-vivors" because they fight cancer in a special way - before it happens!

One last thing... I know it's a little ways off, but March is National Colorectal Cancer awareness month. It is also happens to be Wesley's birthday month! March 4 is Dress in Blue Day to help spread awareness about colon cancer. We'll all be wearing blue! Feel free to join us!

Future updates can be found by clicking... HERE!

The Procedures (FAP - Part 4)

Please read part one, part two, and part three before continuing on...

They always say the prep is worse than the procedure when it comes to colonoscopies, so that is what I kept telling Wesley. He wasn't that worried about it. A diet of clear liquids sounded kinda fun to him. The thought a camera visiting his insides didn't even him bother him that much. He was more worried about getting another IV than anything else!

Bowel prep for kids is, thankfully, milder than the adult prep. I bought two over-the-counter laxatives and a shopping cart full of clear liquids to have on hand. We made several batches of jello and Kool Aid ice cubes to turn into popsicles and slushies and got started.

It went well. It went really well. There were, of course, trips to the bathroom, but nothing too bad. Wesley is my lightest eater so he didn't even really feel deprived skipping meals. He really enjoyed the broth and jello and drinks of all kinds. Everyone else was jealous of his special treats! Even completely fasting from midnight until the procedure wasn't that bad for him. He was hungry, but didn't really complain too much about it.

We were supposed to be at the hospital at 9:30am for the 11am procedures. Traffic and parking went better than expected and we were checking into admitting at 9am. We were called back to the prep area about 10:30am. Wesley was weighed and measured and got to pick out a stuffed animal to keep with him. He chose an odd looking little brown Beanie Baby bird (the tag said his name was Beak). Then he changed into a hospital gown and had his vitals taken. We met with both the anesthesiologist and Dr. B before the procedure.

The anesthesiologist was kind of a character. He asked Wesley if this was his first time with anesthesia and when he said yes, he replied "Me too!" He let Wesley choose if he wanted the medicine to put him to sleep through a mask or an IV. Of course, Wesley chose the mask. He would still get an IV, but this way he wouldn't be awake for it!

I asked the nurse about how long the procedures would take. She said an hour, but not to worry if it went longer than that. Thankfully, they were running on time. I was able to stay with Wesley up until they wheeled him into the procedure room just before 11am. I gave him a kiss and a hug and went to wait in the waiting area.

I checked Facebook. I sent a few texts to Jerry and Roz. I read a couple magazines. I tried to read a book I brought. An hour passed. Then an hour and a half. Then two. Just when I was starting to pace and get really anxious they called me back to recovery. Wesley was still groggy. He tried to sit up a couple times, but we told him to just lay down and rest. He came around pretty fast and was sitting up and chatting with me before too long.

Dr. B came to talk with us. The good news: the endoscopy was completely normal. No issues at all. The bad news: the colonoscopy was not normal. There were already polyps. Lots of them. I think even he was surprised how many there were. He removed over 40 and he was sure there were some he missed. He said it was the ones he missed that worried him most.

There is no way for them to ever get all the polyps. It's not that he gave up taking them out, he got as many as he could see, but there were probably some hidden in intestinal folds that he didn't see. The polyps are very small (2mm) and the same color as the rest of his intestine so they are camouflaged and hard to see. They were not concentrated in any one area, but spread throughout the whole colon. He saw one right at the beginning and more around each corner all the way to where the large intestine meets up with the small.

This is why they will eventually have to take out his colon. They know they could never get them all and it only takes one they miss that could be the polyp that becomes cancerous. The polyps he did remove were biopsied and sent to the lab. If any of the biopsies come back already showing dysplasia (cancerous cell changes) then we will have to start thinking about surgery sooner rather than later. If they come back okay then we will wait and do a repeat colonoscopy in one year.

Despite some of the less than positive news, we know prayers were answered! Wesley did great throughout the whole thing - both prep and procedures couldn't have gone smoother. He had no trouble at all with the anesthesia. There was no pain or bleeding from the polyp removal. His only complaint was hunger and you couldn't blame him for that!

Once he was good and awake the nurse gave him a much needed apple juice to sip on. Not too long after that he was up getting dressed and we were on our way home! Well, we didn't go right home... we made a quick pit stop to grab me a late lunch and Wesley a milkshake. We were just following orders - a milkshake was actually suggested on his discharge paperwork as post-procedure food!

We had a little surprise waiting for him when he got home. We had asked family and friends to send a card. I had intercepted the mail all week so he wouldn't see them before he got home from the hospital. A few kind friends even secretly brought small gifts. Wesley was so surprised and thankful! He asked several times how we managed to keep it a secret! He spent some time on the couch opening his big stack of envelopes and reading everyone's notes.

He wanted to display them in his room, so we hung them all up on the wall where he could see them.

Special thanks to all of you who sent something! It really made him feel special and loved.

On to the last post...

The Results (FAP - Part 3)

Read part one here and part two here, if you haven't already.

Ten days before the scheduled endoscopy and colonoscopy, I got a call from Dr. B. The final results of the genetic testing showed that Wesley does have FAP. The endoscopy/colonoscopy would remain on his schedule for the 18th, but he wanted to make Wesley the last case of the day so he could take his time and possibly remove any polyps that had already formed.

Jerry travels for work once or twice a year. He was on a plane when I got this call. I texted him and asked him to call home when he landed. I told him about the results as he walked to his next plane between flights. Then I told Wesley. He was upset, but took the news pretty well. We had already been talking about it and answering his questions for several weeks. I told him (and everyone else I talked to) over and over what a blessing in disguise it was that he had that lump on his jaw to alert us to what was going on! Not everyone with FAP has osteomas and/or CHRPEs and without those we would have never known!

There was one benefit to all the waiting. The whole thing had been such a slow process, spread out over months, that there was plenty of time to get used to one thing before moving on to the next. Since we were the ones to discover it in the first place there was never really a shock moment with a doctor where the doctor had to sit us down and break the news to us. 

The hardest part for me was back when we were first waiting to see the ENT doc and I had an idea what was going on but didn't know for sure. I couldn't sleep or think about anything else, but when we got no answers, I moved from worried to angry and determined to get answers. Then with all the delays, we got to the point where there was nothing to do but wait and pray. So that's what we did. We shared what was going on with a few close friends and family members and asked them to pray too.

We are just really thankful that God left all these clues for us and we followed them. I truly believe God has a plan here, He has all along. The plan for us to find out about Wesley having FAP was set in motion as far back as 2008/2009 when the eye doctor found that CHRPE in Wesley's eye and took the time to explain it to me. If we didn't have one piece of the puzzle, or even if a different parent had taken Wesley to a past appointment, we wouldn't have figured this out. None of us wanted this, but we're grateful we found out now and not when it was full blown colon cancer in a few years. 

Are we upset? Sad? Worried? Even a little mad? Yes! But here is the deal... Wesley has had this all along. From the moment he was conceived and his whole genetic code was written he has had this. We just know about it now. And it's much, much better to know about it!

The plan was to have Jerry take the day off and stay home with the rest of the kids when I took Wesley to hospital for his endoscopy and colonoscopy. Before we got the genetic test results, I have to admit I was a little worried about the fact that I would be alone when the doctor shared the news that Wesley did, in fact, have FAP. There was no need to worry about that now! Because of this phone call, I knew before we even went in. He definitely had it. The new unanswered question was: had the polyps already started to form?

We would have to wait until the 18th to find out.

Go on to part 4...

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...