A year in the life...

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

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!

Another Pulmonary AVM Embolization

These last couple of months have been long ones to say the very least. On Tuesday, October 6, 2015 my grandfather passed away. This was very unexpected for all of us, and we were all very upset by it to say the least. This meant me getting in the car and driving 4 hours to be there with my mother and my siblings who also took the trip to be there. Jay-Are and Bug stayed home so that they could maintain some semblance of normality for her. Jay-Are also needed to rest up some as Thursday, October 8 he was scheduled to have his pulmonary AVM's embolized (plugged). By Wednesday evening I was back home after a very emotionally draining couple of days, ready (or as ready as we could be) for Thursday morning and Jay-Are's procedure.

Around 40% of people with HHT have AVMs in their lungs (these are known as pulmonary AVM's or PAVM for short). PAVMs, are at risk of rupturing if blood volume increases for any reason. This can be life-threatening as you can essentially bleed out. There are also additional concerns with untreated PAVM's. In a normal lung, your arteries get smaller and smaller as they go deeper into your lung, and at the ends there are capillaries that join the arteries and veins. Capillaries have many important functions like gathering oxygen from the blood as well as filtering out things like blood clots, bacteria and air bubbles. In people with PAVM's the capillaries are missing and the artery connects directly to the vein, meaning there is a higher risk of blood clots and bacteria getting to the brain which can then cause a stroke or a brain abscess. The good thing is that, PAVMs are almost always easily treatable. Bug had a similar procedure done in June for her PAVM, so we knew what to expect.

On Thursday, we had to be there by 6am, so that meant getting up and around about 4:30am or so in order to get everyone ready and out the door. Bug and I dropped Jay-Are off at the hospital and in an attempt to get her to sleep a little more before school we went back home. Needless to say, she did not go back to sleep...go figure. Off to school we went and on with our day, waiting and waiting for news of Jay-Are's status. By noon I had picked Bug up from preschool and still hadn't heard anything from the hospital, so we headed on over!

When we got to the hospital we checked in to the waiting room only to find out that Jay-Are was STILL in the procedure. It had been 4 hours at that point, so naturally I was a little concerned, but the nurses told me he was doing well, so Bug and I decided to go wander around the hospital while we waited. About another 30 minutes or so and we got called back up to the waiting room to wait to hear from the surgeon.

The surgeon that conducted the embolization was the same one that had done Bug's, so we already knew he would do a good job. When he came in to meet with us he let us know that the procedure had gone well, it just took a lot longer than he had originally anticipated.  Basically you can't really tell how long it will take or how easy it will be to get to the PAVM's until you get in there. Jay-Are had 2 large PAVM's that needed to be plugged, the first one took almost 4 hours to get to as they had to try a few different routes to get to it. The second one took about 15 min as it was a straight shot.

After a short stay and some rest by the next day he was doing well and ready to go home! For the most part everything has been going great since then, unfortunately Jay-Are's O2 stats didn't go up as much as Bug's did, but still all seems to be well. Since then we have been back to see the Pulmonary specialist and for now we are set!

For more information about Pulmonary AVM's and HHT: http://curehht.org/about-hht/symptoms/

Two steps forward, one step back

We almost made it to a year. February passed and we were good. We had almost made it to September, yet there we were with Jay-Are in the hospital yet again with yet another bowel obstruction. Frustrating and scary and irritating and expected... Isn't that sad when you expect to go back to the hospital yet again?

The day started out ominously when Jay-Are woke up with severe stomach pains. While stomach pain is not unusual when you have been cut open the number of times he has, it usually is pretty obvious when it is a more worrisome type of pain. Bug and I left him home to rest while we went to church, but by the time we got home he still wasn't doing real great. We played it pretty low key for the day so that he could rest, but come 4pm or so it was obvious where this was heading. 

So we got ready for another round of this. Unfortunately we are old pros, so we got the Gameboy and the phone charger and changes of underwear, all those things you don't really think about until you need them. Jay-Are being the person that he is made sure to take the time to mow the front lawn before he would let us leave, because "if I'm going to be stuck in the hospital for a week, I don't want you to have to worry about it." Then we dropped bug off at our friends house that we are blessed to have live just down the block from us, and they offered to watch bug for us while we went to get Jay-Are checked out.

Once we finally got to the hospital it was slow going to get checked in. Who knew that 6pm on a Sunday night was a busy ER time? About an hour later Jay-Are was finally triaged and settled in with some pain and nausea medicine. They took him in to get an x-ray which as we expected showed something that could be a blockage. So off to CT. Based on all this information the recommendation was to keep him at a minimum of overnight to try and get the blockage to break up on its own, so they put him on NPO (Nothing by Mouth) and had him on IV fluids. They called in to the surgeon who did his last 2 surgeries and he will come and visit him the next day.

When we were getting transported to the room from the ER the transporter asked us if we had a room named after us yet after we told him how often we were in. You would think, but apparently just giving money to the hospital as a patient and not as a donation doesn't count!

In good spirits at least!

Always silly....

Monday mostly consisted of watching and waiting. For the good part of the day Jay-Are remained on fluids only, and then to a liquid diet. For dinner he was up to a soft diet, watching and waiting to see how his body handled things. The biggest challenge of the day by far was that he also was fighting a migraine, so it was hard for us to tell if the nausea was from that or from the food intake. The doctors decided to keep him another night at this point just so they could make sure.

Tuesday he got to go home! The blockage had broken up enough that the doctors felt comfortable sending him home.  Basically we were told that at this point in time they aren't going to operate unless it gets to the point of an emergency due to the amount of scar tissue that he has from previous surgeries.  For awhile he will be on a soft diet in order to help make sure things are still good, then back to normal, with the hope that this won't happen again anytime soon!

The most frustrating thing about this is that there is essentially nothing that we can do in order to prevent these blockages from happening. As a result of the HHT/JPS Jay-Are doesn't have a large intestine (colon) this means that he has all that extra room for his small intestine to float about, which then can get caught on all the scar tissue that he has from previous surgeries.

Children's Hospital - Again...

In June of 2015, we were headed back to Children's Hospital to get miss Bug's pulmonary AVM's plugged. This by far was probably much more scary for mom and dad then for her. This procedure was done via a cardiac catheter that was inserted in the artery near her groin, went up through her heart and then into her lung to put a small coil into the AVM to essentially block the blood running to the malformation.

We had to be at the hospital bright and early at 6am for check in. They did the preliminary blood work etc, explained to her what was going to happen (Children's Hospital is amazing about doing this) and then we said our goodbyes and they wheeled her back.

To our surprise one of our pastor's from church came and sat with us until she was back and settled. It was wonderful to have him come and pray with us all, and he and his wife even brought Bug a little gift which was so sweet.

Once she was back and in the procedure we got a phone call from the cath lab letting us know that she was all settled. She was a little scared once they got there, but was a trooper and went down easy after a little more talking. The procedure itself was about a two and a half hours long and they called us about once an hour to keep us posted. Once she was done and in the recovery room she apparently woke up and had to go potty, but refused to use the diaper they had put her in (we had just recently potty trained, and once she was potty trained there was no going back!). So they had to pick her up and keep her leg as straight as they could to let her go. She is clearly my child...

After we finally got to our room we had six hours of laying flat. When they originally had told us about this part, I being her mother, was a bit skeptical as to how we were supposed to get a three year old to sit still and lay flat for that long. Amazingly though, she did with the help of lots of movies and lots of popsicles.

After another night in the hospital and another heart echo, we were ready to go home once again! This procedure made an amazing difference for her. Prior to the AVM being plugged her blood oxygen levels on average were running around 91% (a normal level should be around 98%), after the plug they almost immediately jumped to 98%! A HUGE difference. I didn't think she could possibly have more energy, but she does now! :)

Hopefully the other small pulmonary AVM's that she has will never grow, but we will have to keep an eye on them over the years. For now we are happy to have a for all things considered very happy and healthy little girl.

All checked in and ready for our procedure!

Laying flat for 6 hours

Up and walking the halls

Headed home in style

We are well loved for sure!