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! 

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/

Tests, Tests, and More Tests

Day 1 in the hospital was mainly just hanging out and getting vitals etc., as we did not get checked in until late afternoon.

Day 2 the doctor’s performed an ultrasound/echo of Bug’s heart, to make sure that everything looked good there. After that came back clear we were basically going to be discharged, as they did not know what was going on, however on the back end our doctor was advocating for them to do more chest x-rays in order to see the hazy spot that they had originally seen the day before. Once the x-rays came back it was determined that she would get a CT and potentially and MRI the following day, since she had been eating all day and they would have to put her under sedation, they had to wait. Given that her Jay-Are has a history of pulmonary AVM’s (Arteriovenous Malformations https://en.wikipedia.org/wiki/Arteriovenous_malformation) which are a result of HHT (Hereditary hemorrhagic telangiectasia https://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia ), we knew what we were looking for. The hazy area that was showing up on Bug’s lung was most likely the result of a pulmonary AVM, however the only way for us to know for sure was to do all of the tests. If the CT did come back positive for a pulmonary AVM, then the next step would be the MRI in order to check for AVM’s in her brain and liver, hence the need to put her under sedation.

Always such a happy girl!

Day 3 we were scheduled for a CT and potential MRI at 5pm. The bad part about this was that bug was not able to eat all day as they were going to put her under sedation for the procedures. After a long day of waiting and a very cranky, but for the most part distracted little girl (thank you playroom!), the CT happened as planned. This for mom and dad was by far the hardest thing that we have ever had to do. They had us hold her while they were putting her to sleep via her IV, and when she went limp in my arms all I could do was start to cry. Once the CT came back as positive for pulmonary AVM’s the next step was that they were going to do the MRI to rule out any AVM’s in her brain or liver which are the other 2 most common places that AVM’s form. 2 hours later and more than a few tears from mom and dad, luckily everything came back clear from the MRI, and there were no additional AVM’s in other areas of her body.

Ready to go home!

Day 4 meant results, and with them tons of new doctors to talk to. We talked to in the span of a few hours a cardiologist, geneticist, and regular pediatrician. After many conversations and more than a little bit of information, our next steps for the most part was follow up appointments. This meant us going to see the geneticist as well as setting up an appointment to have Bug’s pulmonary AVM’s taken care of. So after 4 days in the hospital, and finally some answers, we were ready to go home!

Yawning

In early April of 2015 our Bug started doing this weird yawning thing. Now obviously that is not at all the medically correct term, but none the less that is the best way I can describe it. It was almost as if she was gasping for air, sometimes as much as 10-15 times a minute. As it didn’t appear to bother her, and it mostly happened when she was relaxed, for a few days we decided to just keep an eye on her and see what happened. 

After about 3 days where it did not go away and was not get any less frequent, we called her pediatrician who had us come in for a visit to check things out. After an exam where the doctor listened to her breathing, and took some blood for good measure, we were about to be sent on our way with the thought that it probably was just a tick that would go away with time. Last thing before we left, the doctor decided to check her blood oxygen levels, just to see if they were normal (98-100). Bug’s were measuring on average 87, so not normal. Needless to say, we did not get to go home.

With the absence of any other symptoms such as wheezing or coughing, we were back to square 1 with what was going on. In an effort to at least get an idea, the pediatrician had us do a chest x-ray to see what we could see. From the x-ray we could see that there was a hazy area on her lower right lung. Our next step was off to Children’s Hospital Omaha for more tests!

April 2015

HHT/JPS Defined:

Both Jay-Are and Bug have been diagnosed with Hereditary Hemorrhagic Telangiectasia (tel-AN-jee-eck-TAZE-ee-ya) / Juvenile polyp syndrome (HHT/JPS). Jay-Are has previously had many symptoms and complications from this disorder that only recently have we been able to put together and give a name to.

HHT (also known as Osler-Weber-Rendu) affects approximately 1 in 5,000 people, males and females equally from all racial and ethnic groups. Most simply defined it is a hereditary disorder that is characterized by abnormal blood vessels. This disorder presents itself through the abnormal formation of capillaries between arteries and veins – basically it means you don’t always form normal capillaries and that causes telangiectasia’s (tel-AN-jee-eck-TAZE-ee-ya) in the smaller blood vessels and Arteriovenous malformation (AVM) in the larger blood vessels.

These abnormal formations have a tendency to bleed, and depending upon where they are located and the size of the telangiectasia, it can cause major complications. These most commonly occur on the face and hands and the lining of the nose and mouth. Recurrent nosebleeds are common (the most common symptom) of HHT. Telangiectasia’s can also show up in the digestive tract which can cause bleeding leading to anemia.

The larger AVMs can be in multiple organs, but most typically are seen in the brain, lungs and liver. In Jay-Are and Bug’s case they only have pulmonary AVMs. These AVMs cause a person to be at a higher risk for both stroke and brain embolism due to the lack of capillaries to screen the blood through.

A great website for additional information is http://curehht.org/about-hht/. I would encourage everyone to learn more as this is a disorder that is often left undiagnosed or misunderstood.

JPS is a disorder that occurs in approximately 1 in 100,000 people worldwide. Most simply defined it is characterized by multiple non-cancerous growths, these typically start to develop before the age of 20, in the gastrointestinal (GI) tract, typically in your large intestine (colon). The number of polyps can vary from person to person anywhere from just a few, to hundreds, even within the same family.

JPS is the area that we as a family have the most experience, as this is what has caused many of Jay-Are’s symptoms and therefore as a result surgeries in the past. Up until recently Jay-Are had been clinically diagnosed with Familial Adenomatous Polyposis (FAP) due to the shear amount of polyps that he had in his colon, but we have recently learned that he does not have this at all. This is a relief in many ways, but doesn’t change the past and the pain that he has gone through, it does however allow us a clear path for the future for Bug and her treatment plans.

Both of these disorders are caused by a mutation on the SMAD4 Gene. Approximately 15-22% of people with an alteration to this gene have the combined disorder. So it’s a relatively rare thing to have the combined syndrome, but not unheard of. One of the hardest parts of dealing with this disorder is just not knowing what we were dealing with for so long. It’s been 13 years of various random symptoms for Jay-Are, only to have them all put together and confirmed because of the situation that we recently had with Bug.