It has been almost a year since I have provided an update regarding how things are going for us. When it comes to us, no news is good news! It means that there is nothing out of the ordinary. What I'm starting to realize more and more - especially as I went to do this overview of our year, our ordinary is not even close to the normal persons ordinary!
The last year has been a typical one for us. Which in a nutshell means that we have been to more than a few doctor appointments. These appointments are for a variety of reasons. Some are just check in appointments with both our regular doctors and our specialists as well as regularly scheduled procedures which are done for preventative maintenance. To give you a feel for the sure magnitude of what that looks like I have given a summary of each month and what doctor(s) that we saw in that given month.
January:
Bug had her yearly appointment with her pediatrician - nothing of real significance there, Bug is growing well and that is what we care about!
In addition we had a follow up with Dr. T (our GI doctor) following the colonoscopy and endoscopy that we had done in December. This was basically just to check in and make sure she was recovering well and talk about the future. At this point this means continued and consistent monitoring via a yearly colonoscopy and endoscopy. By doing these on a yearly basis we are able to keep a good handle on the number of polyps that are growing in her intestines and remove them as necessary. The fear and risk we would have by waiting more than a year is that there could be that an increased amount of polyps would be growing and we would be unaware. Polyps that remain in her colon put her at a higher chance of colon cancer (although keep in mind the polyps that grow with Juvenile Polyposis Syndrome (JPS) are juvenile polyps, meaning the tissue is unlikely to turn malignant in a short time period) We also set up an appointment to follow up in July.
February:
Bug had a doctor appointment due to sinus infection. Unfortunately she gets a lot of those since she has a more compromised immune system then the average person. Having a chronic illness will do that to ya.
April:
Jay-Are had his annual appointment with his GI doc - to check in and to schedule his yearly upper/lower.
We went back to the regular pediatrician for Bug, this time with an upper respiratory infection.
Bug had an appointment with an ENT as she has begun to have nosebleeds - not daily, but about once every couple weeks or so. The ENT gave us some antibacterial cream that we can use twice a day that is intended to help minimize the amount of nosebleeds that she has. The only thing is that Bug refuses to use it....and at this point they are pretty minimal, so it has yet to be worth the fight.
June:
Jay-Are had his endoscopy and colonoscopy. Both with regular results - a few polyps, but nothing out of the ordinary for him! He will continue to do this on a yearly basis for the foreseeable future, just like Bug. His is less dramatic as he does not have a colon, so purely maintenance.
July:
Jay-Are went to see an ENT to see if there was anything that could be done regarding his nosebleeds. They did chemically cauterize several spots in his nose, but according to him that just made it worse. So, we probably will not be returning to do any follow up at this time. We knew that walking in as there really is no permanent solutions for the nosebleeds that he will have for the rest of his life. As you age the telangiectasias do have a tendency to increase in number, so it really is just managing it to the best of our ability.
We also had our follow up appointment for Bug with Dr. T (GI) and we got Bug scheduled for a colonoscopy in December. As I mentioned before, this will be our new normal, so we do our best to make it ok.
We also had our joint Cardiology appointment for both Jay-Are and Bug. Jay-Are had to have a heart echo bubble test done - which appeared to be "normal" for what they would expect for him. Nothing that would warrant additional follow up tests at least at this time. Bug did a walking O2 test - which means she ran around in circles (with our cardiologist who was wearing wedges!) in order to measure what the oxygen levels are when she is active. They did drop down to around 87% when active - which they would not do in a normal person - so we are going to do a heart echo bubble test on Bug as well to see what that shows. The good news is we can do that in December when she will already be at Children's Hospital for her colonoscopy.
August:
In August Bug saw her regular pediatrician. For whatever reason she has decided to stop eating at times. She will eat a piece of bread or a couple pieces of a quesadilla and that will be it, for a whole day. We took her in since this had been going on for a little over a week and we were (naturally) concerned. Basically the doctor told us she was still gaining weight and not losing any, so it is probably just a phase and not to worry too much!
September:
In September we got to see our Geneticist Dr. Starr - she is awesome. We see her about once every 2-3 years, really just as a check in. This appointment was (and I'm not joking) scheduled over a year in advance. There are only something like 3-5 geneticists in the State of Nebraska, so I feel blessed that we are plugged into this network and have had such great experiences thus far. This visit allows Dr. Starr to follow our case from an overview perspective and also allows us to get information on anything that might be "new" from a research standpoint that we have not already come upon ourselves. The only thing of note that we learned this time is that the particular genetic mutation that they both have (SMAD-4) can cause connectivity issues, which explains Jay-Are's joint pain as well as both of their flat feet. We were encouraged to make sure that Bug wears supportive shoes to help with that.
October:
We were back to our regular pediatrician, this time for pain in Bug's right ankle. They did an x-ray and everything looks normal. The doctor told us we could go to ortho if we wanted, but most likely is just a mix of her flat feet and growing pains. We have yet to decide if we want to pursue this further. At this moment in time we are just tracking when she does have pain to see if we notice any patterns.
November:
So far this month we have been to the dentist! Clear report - 1 permanent tooth, no loose teeth and no cavities!
Scheduled for the end of the month is Bug's annual appointment, we are doing it early this year (typically we do this in January around her birthday). This is due to the colonoscopy and endoscopy scheduled in the beginning of December.
December:
At the beginning of the month Bug will go in and have her second endoscopy and colonoscopy. Given the complications that occurred the first go round, we are prepared for a similar situation, but obviously pray that will not be the case! I will provide an update on things after that has occurred.
So this is a "typical" year for us. And I'm pretty sure I forgot at least one or two appointments! Nothing out of the ordinary, just our "normal" routine. I am exhausted just looking at it! Luckily the Lord has prepared us for this life and so it really does not seem overwhelming in the moment.
As always we appreciate your continued thoughts and prayers. We appreciate you on this journey with us.
-Danielle
