An unwanted and hopefully temporary title : Adrenal insufficiency

First, a little background for those of you who may be just tuning in…..

We here at the Bush house have had an ongoing love/hate relationship with oral steroid, in our case prednisolone. Before Mason was given his diagnosis of NEHI he was believed to have pneumonia or other lung conditions and was given oral steroids time and time again as treatment.  Even after we had his diagnosis he had times where he was in such respiratory distress our pulmonologist thought giving some steroids in hopes of giving him some respiratory relief was necessary. There were times it did seem to help him and he was only on them a few short days. Then there were the times we have no idea if it did him any good and he would be on them for so long he would then get “stuck” on the dreadful stuff. Now do you understand the love/hate? That’s the short version of what Mason’s steroid experience has been.

Secondly, lets have a little endocrinology lesson.

 (I feel it’s my duty to first say I am by no means qualified to give this lesson. This profession is a LOT about numbers and I willingly admit I’m terrible with numbers. I know I’m about to totally dumb this down. I just want to get enough information across that we can get to talking about the stuff I’m good at; Mason. )

Your brain sends a signal to your adrenal glands telling them to produce cortisol. The signal that is sent is the hormone ACTH. If you don’t produce cortisol you receive oral steroids as a replacement. So when you receive a lot of oral steroid and for an extended period of time your adrenal glands can shut down or go to sleep because there is no need for them to produce, you are giving the body all it needs. Cortisol is known as the “stress hormone”. Your body needs cortisol to regulate many things and to respond to stress. Without it you could go into shock.

Lastly, but definitely not least lets get to Mason.

Mason’s cortisol levels have always been on the lower end when we test him. I’m not going to name names but lets just say we had some doctors willing to sit on it and others not ok with it. Jonathan and I were not ok with it and wanted to find out more and why. We have learned that when it comes to the rare and unknown we want to, need to, push to know as much as possible. Where better to go then to our right hand man, in this case a hospital. We set up an appointment with the endocrinology department in Denver and went for a second opinion. As always, Children’s Hospital Colorado delivered.  The doctor agreed his levels were low and she too felt like we should look into it more. She wanted to do an ACTH stimulation test. Basically they put in an IV and inject him with some ACTH and then test him at 30 and 60 minutes to see how his adrenal glands respond, do they stress respond and produce cortisol like they should. They take a baseline cortisol level first thing before injecting the ACTH and Mason was at a 6.1 which is not stellar, but acceptable. At 30 minutes the response should be at least a 10 and Mason was at 13.1. Go Mason Go! At 60 minutes the level should be 18 and Mason was only at a 13.9. Boo Mason Boo! In the doctors notes she said “he still has evidence of iatrogenic adrenal insufficiency.” Since he is insufficient we will have to stress dose him if he gets ill. He can be stress dosed by oral steroid as long as he can keep it down, if he can’t keep it down I have an injection that I can give him. In 3-4 months we will repeat the ACTH test to see where he is. The hope is that this is all because of the steroid and that his adrenal glands are not damaged and will eventually wake up and produce at the level they should.

I want to address two things that I’m sure many of you are thinking.

1.  This would have never happened if the doctors didn’t put him on steroid for no reason or for so long! (or something like that).  I don’t blame the doctors and I don’t hate the medicine. This road that we have been on and continue to be on with Mason isn’t straight and narrow. Mason has a rare disease; one with no treatment, no cure and little known about it at all. Steroids have been known to help pneumonia respiratory issues, asthma and other lung conditions.  When Mason was prescribed oral steroid it was because it was truly believed it could help him. It’s not always fun feeling like your son is the guinea pig or that you are paving the road. The truth is I’d much rather have some beautiful road with all the answers laid out for me. That’s not reality though and so I’m not mad we sometimes pave the road I just hope that we can look back and see some others go straight over bumps because of pavement we laid. There is simply no point to look back and be mad.

 2.   Adrenal insufficient sounds crappy and like a bad test result. However it isn’t adrenal failure, now that would be a bad test result! I look at it as if he got a C maybe even C+ on this test. His adrenal glands are functioning and that is great news! So they aren’t functioning at the level they should be, we’ve all not functioned at the level we should from time to time right? We will wait it out and live life for the next few months and then do testing again. If the results are still insufficient then we start to look into if something other than the medication has caused this or if it’s more permanent than we thought. For now I’ll make sure the adrenal glands know a C is unacceptable and there will be some grounding, no TV for a week for sure!

As always, Thank you all SO much for your love and support through all of this. Having Mason wrapped in your prayers and your strength is so comforting. His smile and his spirit take all my worry away. Mason is such a light and a blessing in my life, I know whatever the road ahead holds he will pave it with greatness!

Love you all!

Carly

Did I just use the word 'healthy'?

The question I get most often is “How is Mason doing?”.  This is a challenging question for me.  Mason, like most chILDren, is not a black or white case so to speak; he is always gray.  I could easily answer why he is doing well or not so well but that always would come with some sort of qualifying “but….”. That is why such a seemingly simple question is such a challenge for me. Not knowing how much to say or how in detail I should get with each individual often left me not answering very well; and for that I’m sorry.

Today, however, the question of “How is Mason doing?” brings on a whole new emotion/issue for me. The question doesn’t seem very challenging at all in fact. Mason is doing awesome.  Mason is eating well, drinking well, growing, learning, laughing; I could go on for days it seems like when I think of how well he is doing at the moment. Mason is OFF OF STEROIDS (as of October) and his body is finally functioning with a high enough cortisol level that we don’t have to live in constant worry of him going into shock. Mason is my little rock star! So what’s my issue with the question of how Mason is doing? This question makes me a nervous anxious wreck at times because I catch myself almost blurting out “he is doing great, he is really healthy”.

*Insert Gasp Here

*also please knock on any wood you have nearby

Healthy. Did I just call my son…that word? This simple word, a word that seems like a perfectly acceptable way to describe someone when asked how they are doing, is a very emotional word for me.  My sweet boy has a lung disease, he will always have a lung disease, so dare I call him healthy? I know this seems very silly to many of you and sometimes I would agree with you; but here is my reasoning. Although Mason is doing so very well I must always keep my guard up. It is my job as his Mom to protect and take care of him and that means I must always remember that he is my Mason chILD. Every single day when I tape the oxygen onto his sweet little cheeks I am reminded that no matter how well he is doing his lungs are not healthy; they are compromised so to speak. So while the world sees this amazingly happy, healthy young boy I have to see that too but also remain on the offense. I know how quickly that picture of health can change with one cold, one virus, one illness. Maybe I fear using the word will throw me off my game, make me slack or become complacent. So please know, Mason isn’t doing terrible just because I didn’t say he was healthy. Mason is doing phenomenal right now, I just want to make sure I can be even halfway phenomenal in keeping up with him and his health.

Thank you all for your many thoughts and prayers for Mason. He is in a truly great and blessed place right now! I pray he continues down the path he is on because I see nothing but bright things in my sweet boys future!


Here are some more recent photos of our sweet Mason!

Current Battle: Stuck on the Steroid

Before Mason received his official NEHI diagnosis he, like almost all chILD kiddos, was given test after test, medicine after medicine and diagnosis after diagnosis.  When he was believed to have Pneumonia he was put on an oral steroid. Since he constantly had respiratory issues (undiagnosed NEHI) he was off and on steroids often.  Mason has been on some pretty high doses some of this time.  Once we finally received our diagnosis and had an answer to all he has been going through we realized one major problem, steroids DO NOT help NEHI kids. Leaving Denver our number one goal was to get him off oral steroid and get him on Oxygen.

            Mason has been on an oral steroid since October. That’s ten unnecessary months of the nasty stuff. (On a side note. The doctors truly believed the steroids were helping. They were doing their best to treat Mason without knowing what was going on. I am truly not upset or blaming anyone for the use of the oral steroid.) Long term steroid use can and does in Mason’s case have many side effects. This brings me to the battle we are in now, getting him off the nasty stuff.

1.     Long term steroid use can stop or severely decrease your bodies ability to produce it’s own cortisol.  We have weaned Mason down to the lowest possible dose of oral steroid possible. Every two weeks we go to have blood work to test his cortisol level and see if his body has “woken up” and is producing sufficiently on its own. We have been testing for about 10 weeks now and we are not even half way to where we need to be. We go again next week for another test and if the levels aren’t better we are going to an endocrinologist. They can run more specific tests to find out why his adrenal glands are not functioning like they should.

2.     Long term steroid use can cause you to have high blood pressure. While in Denver Mason’s blood pressure was high, very high, like high for an adult high. So he has been on a blood pressure medicine ever since. The hope is that once we get him off the steroid his blood pressure will go back to normal and he will no longer need the blood pressure medicine.

3.     Failure to Thrive.  Mason is doing great, he is a sweet boy who by all means looks healthy and happy. However, his height and weight are below average and when graphed you can definitely see where he has leveled out and in weight even decreased. NEHI itself can cause and contribute to failure to thrive but the steroid definitely isn’t helping anything!

4.     All kinds of other crappy side effects that can be caused by steroids that we are going to have to look into. Decreased bone density and cataracts for starters.

So the battle to get off the steroid and get Mason’s adrenal glands functioning is the big one right now. I’m hoping for good test results next week but if not I’m ready to start the next step of testing and figuring out a plan to move forward. I’m hopeful we’ll get him off the junk soon and I’m praying his little body has not suffered many, if any, lasting side effects.

A Soggy Bowl of Rice Krispy Treats

         A couple days after we got home from Denver we had an appointment with our pediatrician for a general check up after Mason’s procedure.  We went into the appointment feeling really positive about what we had accomplished in Denver and ready to share all the information with her. We were NOT prepared for what was about to happen. As we were filling her in she was examining Mason and he was all smiles like usual when all of a sudden we saw that “look” on her face, you know the look doctors get during an exam that immediately tells you something isn’t right. She asked us if we had noticed anything strange with Mason’s side, we had not. She then told us to feel his side, as Jonathan so eloquently put it “feels like a soggy bowl of rice Krispy treats”, and it did feel just like that…and it was gross. She sent us immediately over to our pediatric pulmonologist because she was fearful it was an air leak. He took one listen/look and was on the phone to Denver. Within the hour we were on our way to be admitted to the hospital; Mason had a pneumothorax, x-rays confirmed.  A pneumothorax is a build up of air inside the chest cavity between the lung and ribs, it is typically the result of an air leak and causes the lung to become partially collapsed…the last think a kid with a lung disease needs.  It is likely that Mason’s air leak developed at one of his biopsy sites.

            As we were making ourselves at home in the hospital we got a LOT of visitors in the form of nurses, medical students etc.  It turns out Mason’s pneumothorax was pretty large and most people had never seen, heard or felt one. Everyone was very nice about asking and Mason was more than happy to lift up his shirt and show his belly. I figured if we are going to be in the hospital we might as well let people learn from our little man! It was decided that we were going to try and “flush” out the air. Mason was put on 5L pure oxygen via mask. The thought is that the pure oxygen will wash out the pneumothorax by causing it to be reabsorbed by the body.  Technically there is no scientific “proof” that this works however it is less invasive than a chest tube. The plan was to push the O2 and have daily x-ray to make sure it wasn’t growing.  While doing this plan Mason was put on NPO (no food or drink) in case he were to need an emergency chest tube. 

           After two days of no progress and Mason getting nothing but IV fluids he was reevaluated and it was determined he needed a chest tube. Within minutes of being told his pneumothorax was “dangerously large” we were heading down for emergency surgery. At this point Mason has had several procedures including a lung biopsy so you would think I would be a little bit more seasoned at this. I’ll chalk it up to the fact that it was “emergency”, unplanned and very rushed. Whatever the reason, this procedure was hard on me and seeing him come out with the chest tube draining from his tiny little body was even worse.  They say a “leak” is a possible complication of a lung biopsy however it’s rare. Well I should have known better, Mason is all about rare! Good thing he is SO much stronger than I am AND good thing I have my wonderfully amazing husband, his parents, my sis-in law and brother in-law, my parents and many other friends and family. They say “it takes a tribe to raise a child” and man o man do I have a strong tribe!!! Mason had the chest tube in for four days before the leak had stopped and the pneumothorax was gone. Every single doctor, nurse and tech that came to our room commented on how amazed they were with Mason. They said they have A) never seen a child so young with a chest tube B) all the adults they see lay in bed and can barely move, Mason was all over the place smiling and laughing. We followed him around with the oxygen and chest tube box and it was a job because he did not slow down. Mason is a trooper! After a little over a week in the hospital we were on our way home with that little complication behind us. Our little Mason man is doing awesome and all that remains from all the procedures, lung biopsy and pneumothorax is three little scars on his side and most importantly A DIAGNOSIS!

The chILD in Mason is…. NEHI (Neuroendocrine Hyperplasia of Infancy)

Today we met with Dr. Deterding to discuss results of the tests and procedures Mason has had done this week. There was a lot of information discussed and I’m going to do my best to relay it to you all in an organized manner….bear with me here.

Test Results

            The results of the infant pulmonary function test were pretty typical for NEHI patients.  The test gives you a multitude of respiratory measurements. The most telling I think is the “air trapping” shown.  When a healthy individual breathes out they exhale about 75% of the air from their lungs leaving their lung 25% full pretty much all the time. This allows room for large deep breathes.  During the iPFT they use a vest to apply pressure and kind of push all the air from Mason’s lungs. When this happens it gives a measure of his sort of maximum exhale. The study showed that when they did this Mason still had about 50% of the air still in his lung after exhale. Since after exhale his lungs are still so full it leaves significantly less room to inhale fresh, oxygenated air. This explains Mason’s short quick breaths. It is also a good indication of “air trapping” which is one of the main markers of NEHI.

            The pathology from the lung biopsy also confirmed the NEHI diagnosis. You can see on the sample that there is an abundance of neuroendocrine cells, which is a marker for NEHI. (Picture Below). There was also some visible scarring or fibrosis in some of his airways. This could be from some previous pneumonia or respiratory virus but is most likely related to the aspiration caused by his laryngeal cleft.

The Neuroendocrine cells are stained brown here with Bombesin.  Heavily magnified.

Diagnosis

            We can now official say that Mason has chILD, specifically NEHI, with slight complications due to scarring in the air sacs. Here is the link to information on NEHI: http://child-foundation.com/education/NEHI

            I am not excited to say my son has a lung disease. However, in terms of children’s interstitial lung disease, I am somewhat excited to say that my son has NEHI. All chILD diseases are extremely rare, NEHI, however, is one that often does get better with age. This fact gives me hope. I know Mason has a chronic lung disease but to know he may get better is such a remarkable piece of information that I hold dearly in my heart.  How ones body tolerates the air trapping and breathing troubles is totally based on the kid. Some NEHI patients require oxygen 24/7, some only at night and some not at all. I plan to hold firmly to the belief that Mason is a strong little trooper and he will be one of the ones that kicks his disease to the back burner and enjoys life and all it has to offer!

Plan going Forward

1.     Get Mason off of the oral steroid. Chronic steroid use has some pretty crappy side effects. One of which we are already seeing, high blood pressure. Mason has had some extremely high blood pressure readings so we are going to put him on a blood pressure medication. Hopefully this will help keep his blood pressure under control during the steroid tapering. We fully anticipate once he is off the steroid his blood pressure will be fine and we will be able to take him off the medication. The tapering off of his steroid is a gradual one since he has been on it for so long. I believe if all goes well and no illnesses or other complications arise he should be off of it completely in 3-4 weeks.

2.     Keep pumping him full of the good stuff….Oxygen. We hope to keep him on oxygen 24/7 for at least two months. What we hope is that Mason can have good saturation and no respiratory issues being on just oxygen with no oral steroid. If after two months he seems to be great and we have a pretty healthy baseline we can then play around with having him off of it at times. Like I mentioned before, all NEHI children require oxygen on different magnitudes. We need to find out what keeps Mason the healthiest.

3.     Mason will continue to take his inhaled steroid. We believe this is necessary because of the small scarring in his airways.

4.     Get the laryngeal cleft surgically repaired. We will go through all the tests to hopefully see that it is making a difference and helping him to have the polymer in there. However, even if there isn’t definitive evidence, we should have it fixed to get rid of any other underlying issues that could be contributing to, or complicating his lung disease.

5.     Lots and lots of visits to the doctor. We will need to meet with our pediatrician to discuss the blood pressure issue. She will need to monitor this to make sure the medicine is helping and that it’s not getting worse with the steroid tapering. We will also need to be in constant contact with our Pediatric Pulmonologist at home in regards to the steroid tapering and how it is affecting his respiratory rate and symptoms.

6.     Buy Oxygen! We have been renting oxygen equipment for this trip since he doesn’t need it in Tulsa.  Now that he does require it we’ll need a concentrator for the house and a portable one for when we are out and about. I can only imagine how fun this is going to be. A 17 month old hooked up to a long cord wrestling his 3 year old brother and chasing his dog. If you are trying to reach me and I don’t answer it’s probably because I’m bound up in oxygen tubing somewhere!

This trip to Denver has been truly remarkable. We have learned so much about ourselves, our son and his disease. We are leaving here with a diagnosis and a plan to move forward. The hospital and all of the staff have been beyond what we expected and could have hoped for. Dr. Deterding and all of her staff are top of the line and we are forever grateful to have them on our team. I am so confident we made the right decision to come here and we plan to come back often for check-ups and to keep up-to-date on the latest in the research of NEHI. Knowledge is power and I am glad to say we are finally knowledgeable when it comes to our son’s disease.  Mason has a lung disease but I am absolutely, positively determined to not let that define him. I’m sure our plan and path going forward will be constantly evolving and changing but one thing will always remain constant; we will keep going forward!

I want to send a GIANT hug out to all of you who sent so many hugs, kisses, prayers, positive thoughts and words of encouragement our way this week. We are all so blessed to have to you all in our lives. We love you and Thanks a million!