Bug's First Endoscopy/Colonoscopy

December 19 was the day! We went in to get Bug's upper endoscopy and colonoscopy at Children's Hospital.

The day before was no fun to say the least. She was unable to do anything other than eat and drink "clear" liquids. She also had to drink 64 oz of Gatorade with 1 bottle of Miralax mixed in. We did our best to make it fun. We ate lots of popsicles, made snow cones out of Gatorade ice cubes, and tried jello (she didn't like it) along with just drinking Gatorade.  She was a trooper and did a really good job with not complaining too much about being hungry and sticking to no purple and no red popsicles.

Our procedure was scheduled for 12 noon and we were supposed to be there by 10am. We got there around 9:30am as the roads were a little iffy, and we wanted to make sure that we were safe. When we got there and while we waited we got to meet Santa! She even got a present, a baby doll, which she was very excited about.

Holding the Soldier's Hand

We got to meet Santa!

Once we got called back at 10am we got to wait and watch a movie. She chose Home Alone, one of her favorites. After we watched some of that she found the play room with dad and got to bring some Hot Wheels back to the room to play with.  Children's does a great job of coming and explaining everything that will happen. So we got to during this time talk to not only our GI doctor, but also to a Child Life Specialist (they explain everything to the child so they won't be scared and show them pictures of what the room will look like etc.) as well as we talked to the anesthesiologist.

We found the playroom and some cars

Watching Home Alone while we wait

Right on schedule at 12 noon they wheeled her back and as she left she was giving everyone princess waves, so I felt confident that she was in good spirits and not scared. They told us that it would be about 45 minutes for the procedure, after 2 hours Dr. T came to talk to us. At that point I knew something had gone wrong, as it had taken too long, but not so wrong that they felt they need to come get us early. As I thought the procedure was finished, but they had some complications. The endoscopy was uneventful, but the colonoscopy was not. While she was doing the scope she said it felt as if someone was tugging on the camera. When she pulled the scope out, blood came with it. To be safe they had the GI surgeon come and take a look. What had happened was a hemangioma had formed (like a blood blister). She also had taken out a large clump of polyps that was  approximately 2 inches around and had to get close to the intestine to remove it, which had some potential for perforation. There was also about 20 other polyps in there that we will keep an eye on. All of this together meant that they wanted us to stay the night to keep an eye on things so that if something should go wrong we would be in the right spot.

Bobo & Titi sent us balloons!

In our room resting after our procedure

Once we were back in our room she got to eat after about an hour and watch movies. We rested for a while, at some point she needed to use the restroom, so I picked her up to head that direction. When we did that I felt liquid, at first I thought she had to go so bad that she couldn't hold it, but it turned out to be blood. Luckily the nurse as well as the nurse practitioner was there at that moment, so they reassured us that it was alright. This continued for a couple hours before the bleeding finally seemed to stop. All said and done she lost about 5-6 oz of blood, but the pediatrician on staff said that it was the amount they would expect to bleed out of the hemangioma, so as long as it stayed stopped, then they were not too worried about it. He had however gotten all the appropriate doctors up to speed just in case. Due to the bleeding they did put her back on no food and gave her and IV to keep her hydrated. So she was very hungry, but all in all we were able to distract her with movies. We did get up to go for a walk, although she was pretty unsteady on her feet, so it didn't last very long.

Out for a walk (it didn't last long)

After a "good" nights sleep (or at least some sleep) we were up and had some color in her cheeks which was a good thing. Since the bleeding had stopped, she finally got to eat and she was very excited about that. Once we finally got the all clear to go home, we waited for awhile, and watched yet another movie. We got home in the late afternoon and spent the rest of the day resting.

Finally getting to eat! She was HUNGRY!

Even Cupcake was glad to see her home!

Going Home!

Within a couple of days we were back to normal and hopefully we will remain so for awhile! The biopsy results from the polyps removed came back as normal, so that is good. We will have a follow up appointment in January to talk about next steps with Dr. T. Until then we continue on, like we always do!

And So It Begins...

Both Bug and Jay-Are have JPS (Juvenile Polyp Syndrome) as a part of their HHT (Hereditary Hemorrhagic Telangiectasia) / in addition to their HHT. This is caused by the specific genetic mutation that they have; which is SMAD4. We know this as we have done the genetic tests to confirm as much. As a result of this we know without a doubt that Bug will have polyps in her GI tract (Jay-Are has this as well and has had several surgeries as a result in the past as well as he gets yearly screening). It is just a matter of fact, and one that we have accepted. What we did not know is how soon those will appear and the extent of what is to come. This means that part of our reality is that there is a very real possibility that one day Bug will have to have her colon removed just like Jay-Are did, but hopefully not, and if so, hopefully for not many years to come.

In order to make sure that things are in the right hands we have a GI Specialist that we see once a year (Dr. T). Dr. T is awesome and does a really good job of helping us to understand what we should and should not do in order to be as preventative as we can in our situation. For us that includes Bug taking MiraLAX on a normal basis to ensure that her stool remains soft, and watching for blood in her stool (yes we look at every single one, oh the joys of parenthood).

Recently the second came to light. There was blood in her stool two different times, in a short amount of time (within two days of each other the week before Thanksgiving). For most parents this would probably be extremely frightening. For us, unfortunately it was expected, and as I mentioned, something we are always watching for. As a result, we called Dr. T and let her know what was going on and she got us in for an appointment this week on Tuesday. At that appointment she told us what we already knew, but did not really want to hear. If there is blood, then there is probably a polyp bothering her, which means that we have to be invasive much sooner than we wanted to. Up until now the plan had been to observe and monitor and be as non-invasive as possible. With this new development, plans have changed.

What this means for us now is that Dr. T will need to start looking on the inside to see what is going on. So long story short, we will be doing an upper endoscopy and colonoscopy the week of December 19 at Children's Hospital. From there we hopefully will have a better idea of what is happening on the inside and be able to formulate a plan from there! I will keep you posted once that has happened, but wanted to make sure to keep things up to date for those that were interested! 

Doctors, Doctors and more Doctors

Sorry it's been awhile since we have provided an update! For the most part things have been good, but we have most certainly been busy with various doctors and appointments.
 
One of the most frustrating things about HHT is that it affects so many different parts of your body. As a result, this means that we have lots of different specialists that we have to see on a normal basis. This seems like even more considering that we have both specialists for Jay-Are and pediatric specialists for Bug. We have not only having a Primary Care doctor, but also a cardiologist, pulmonologist, genetic specialist, and gastrointestinal (GI) specialist, all of which we have to meet with, not only for just check in appointments, but also for procedures, follow ups to procedures etc. 

In April we met with both Jay-Are and Bug's GI doctors - separately. 
Bug's appointment was just to establish care with the specialist. I have to say Dr. T is awesome. From our visit we basically established that yes Bug most likely has polyps in her GI Tract given the family history and positive genetic test for JPS, however the best we can do right at this minute in time is monitor. The less invasive we can be the better, as polyp's like scar tissue or scabs - grow with irritation. For now her numbers look good, she doesn't have any abdominal shunting that was visible from her scans last June, and she is on a good growth curve. We will visit once a year for now, keep monitoring her various levels (iron, proteins etc) and talk about more invasive testing later on. 

Jay-Are's specialist visit was in order to talk about next steps in his testing. Since we already knew about his well involved case of JPS, and he has had his colon removed years ago, it really is monitoring at this point. For him this meant that he had an upper endoscopy on May 23rd and then a pill camera test on June 1 - where he had to swallow the camera pill and it is supposed show us what is going on in the rest of his system that the endoscopy won't show. Unfortunately this did not work the first time around, so we had to go back in on July 1 to have it placed into his small intestine via an upper endoscopy (they put him out for this, and it was considered an outpatient thing). The results of this were positive, meaning there was no additional polyps in the in-between areas that we need to be worried about at this time. 

We did however end up in the Emergency Room on July 3 for Jay-Are for what we believe was a partial bowel obstruction. Luckily after spending 8 hours there we were able to go home, take it easy and it seems to have resolved itself.  

In May (I think) we also went to see a pulmonologist for Bug, where she has been diagnosed with exercise induced asthma. Nothing really to worry about, basically just an inhaler as needed and some preventative medication to help (which it seems to have done). 

In July we also saw the cardiologist for both Jay-Are and Bug. Both are checking in good here, nothing to worry about at this point. Jay-Are had both a CT and MRI - everything is as it should be and he will have a heart echo next year. Bug didn't have to do anything other than the equivilent of an exercise test! They had her walk really fast in a circle around the office to check her oxygen levels. All which were within the range, although a little low once she got going, still nothing to worry about. She will get a CT and and MRI again in another couple years once she is a little older.  

 
Not only is all of this time consuming, and nerve racking, but also costly, as all of these appointments, procedures, hospital stays cost money.

We have pretty good insurance all things considered, but there are moments when  it seems like all I will have is years upon years of fighting insurance in our future, which is daunting to say the least. Luckily since the first of the year when we switched carriers this has been MUCH better, because before I consistently was having to request appeals in order to have certain things covered that insurance thought they shouldn’t need to cover.

For the bills that we do have, we have been blessed to be helped significantly by our family members, and there are not enough thanks that I can give them for that assistance.

The biggest thing that we can say about having HHT/JPS is that you really do have to be your own advocate. This is a rare enough thing that unless you go to an HHT center (which we have not done as of yet), then a lot of times doctors themselves have to read up on the disorder and how it presents. More often than not the doctor’s immediate response is something along the lines of “wow I didn’t know anything about this” or “I have a colleague who knows a little bit about this”. I (Danielle) have taken to being our family advocate, and I have tried to continue to learn as much as I can in order to help educate others as well. I will tell anyone that wants to hear (or not) about HHT!

Most importantly you want to have a doctor that is willing to learn about the disorder and is willing to help manage your overall care. They don’t need to be an expert, but they do need to be willing to learn. We have been lucky in the sense that our doctors have all been very willing to learn about this and help direct us to appropriate individuals locally that may have some additional knowledge and experience dealing with HHT. It helps to live in a larger metro (we live in Omaha, NE), as there is more healthcare providers available for reference and as resources. Someday we would like to try to go to and HHT center, however the closest one to us is the Mayo Clinic in Rochester, MN which is just over 5 hours away from us. Luckily it’s not an unreasonable distance to travel; we could feasibly drive not fly, which would help with the cost. Maybe one day in the next few years we will be able to do that! 

As always we thank you all for your continued support and prayers as we take this journey. It will be a lifelong one for us, but one that we are prepared for one step at a time. We will continue to do our best to keep you updated as things progress, but no news is actually good news in our case, as if there is something going on it's usually extreme!