Rare Disease Day 2016 - Making the voice of Rare disease heard

Today is the worldwide Rare Disease Day; this year’s theme is the patient voice. The goal is to encourage and empower patients to get their voice heard. The little patient’s voice that is nearest and dearest to my heart is that of my sweet Mason. Every day I get to hear him tell stories, jokes, say his prayers and tell me that he loves me. I haven’t heard Mason speak much about his rare disease. He is well aware that he has NEHI and he also knows he doesn’t really like all the test and procedures he has done and continues to do. The one big question we have received hasn’t been from him but from his older brother. Jackson once asked us “Why did God give Mason lung disease? That wasn’t a very kind thing for him to do.” This raw and honest question came from a brotherly love and it kicked me right in the stomach. After getting my breath back I explained to them both that “God loves us all so much and we are all perfect in his eyes, however just like some people wear glasses because their eyes don’t work perfectly, Mason has to use oxygen because his lungs aren’t perfect. I get that this seems unfair but God knows Mason’s strength, he knows he is a fighter, a lover, a calm and sweet child; God knows he can handle this. God also made sure Mason had an amazing older brother who would love and care for his sweet younger brother. He also gave Daddy and I the sweet blessing of these two boys because he knew we could handle it!” They both seemed satisfied with this answer. This year’s theme has me thinking back to this question and realizing that the older Mason gets the more questions he will have. Right now it’s my job to ask the questions and fight for answers. Right now I am the patient voice but what happens when he speaks for himself? I can handle the “we don’t know” that comes along with almost every question I have because it just gives me more drive to do something. I want Mason’s voice to be confident and informed; I can’t stand the thought of it being weak and unsure because there are no answers. Today I am thankful for Mason and the great year that he has had health wise. Today I also felt like I got another kick to the gut because the next question I get asked by my boys I may not have an answer to. We have no idea what Mason’s future will look like health wise; we can’t even predict what next month will look like. NEHI may be rare and unpredictable but that doesn’t discourage me. We need answers before more questions are asked and we need Mason’s voice to heard. For now I’ll speak and I’ll speak loud; I love Mason with all my heart and I will defeat NEHI. Jonathan and I will continue to make our voice heard and very soon we hope to have a plan that all our friends and family can join and with the loudness of a crowd we will make a change in Mason’s future and all the lives of the precious NEHI kiddos around the world!

Since the theme is "Making the voice of rare disease heard" here is a video I made last year. I don't exactly like the sound of my own voice but when it's talking about something this important I have to share!

Mason's Big Day

I don’t know that Mason could tell you what his first memory is, or even how far back he can remember. I am certain however that he can’t remember a time he slept without wearing his oxygen, a time before his diagnosis. I can tell you though; it’s been over 2 years, pretty much all his life. I remember how I felt when they told me my baby boy would need to wear oxygen anytime he was sleeping. My little chubby bubby now seemed so fragile. Next thing I know I have a huge oxygen concentrator and all that goes with it in my son’s nursery. His sweet simple blue nursery now housed medical equipment.  It seems like such a small thing to do really. You put the cannula in his nose, you tape it to his cheeks so it stays in place, the cannula tubing goes into the longer tubing that attaches to the oxygen machine, you turn it on.  Simple. NOT!

That lovely oxygen machine makes the loudest beep known to mankind when you turn it on. If you rock your sweet boy to sleep and then turn it on it will be sure to startle him into total alertness instantly. Then the constant hum of the machine, which actually sounds like white noise, will be bothersome to him and you on the monitor at first. Of course you also have to have to portable oxygen to take anytime you aren’t at home and he will be sleeping. When traveling with that don’t forget the extra battery, charger, connectors, ext. Sleeping is now never simple.

Then there’s the tape. Do you have any idea how many types of medical tape there are out there?  Some tapes work so well that when you take them off they take some sweet little baby cheek with it. So now the next night you have to find a way to tape it down around the raw patches from the night before. Some tapes just don’t come off period. I literally had to debate if it’s worse to leave the tape on or use some kind of rubbing alcohol to try and remove it. Of course we eventually found the perfect tape to go on and off easy and leave his cheeks as chubby and intact as ever! Tape crisis over......until they start moving. When they lay still on their backs the cannula pretty much just sits in the nose. When he starts moving his head side to side and rolling around you have to be more strategic about tape placement.  Turns out taping half way between the nose and the ears at a slight upward angle is just perfect!

Now that it’s taped to his face he has about 10 feet of tubing connecting him to his oxygen machine. The tubing never bothered Mason, he’d roll around in it and sleep just fine. He’d wake up with tubing around his belly 4 times and his neck twice. Nothing lets a momma get good nights sleep like the vision of her son being strangled by the very tubing carrying the oxygen he needs to thrive. We tucked it down the back of his pajama top, thru his pants, anything we could think of. Thankfully most mornings he wakes up tangle free but even now it takes my breath away a little when I see that damn tubing around my boy like a boa constrictor. (side note: if you know me you know I’m terrified of snakes so this makes it doubly as bad!)

Although it was a learning process for everyone involved Mason took it all in stride. I joke at all the “struggles” we had in the beginning and I think that’s only natural when you are learning something new. Mason never seemed to notice, never seemed to mind, he just smiled and went with the flow. Mason has never known what it’s like to sleep without a cannula in his nose and tubing restricting him to his bed and about a 15-foot radius. He has never complained, never seemed to think he was different or like it made him sad. Mason is such an amazingly strong, young boy!

Mason did a sleep study to see how his oxygen saturations where doing while he slept. Most NEHI kiddos typically have less O2 needs the older and stronger they become. The study left us all eagerly anticipating the results. For Mason, this would be life-changing news. The study showed that Mason had a few moments of low oxygen levels but was consistently high enough that he could sleep without oxygen. Let me say that again, or maybe scream that, MASON CAN SLEEP WITHOUT OXYGEN!!!!!!!!!!! I almost broke into tears when the nurse called to tell me. Mason is strong, I’ve always known that, but now his lungs are getting stronger too; I’ve always prayed for that. Mason will still have times of sickness or other struggles where he will need to wear it again but while “healthy” he can sleep oxygen free! This is a rare moment for me because I truly feel like I cannot put into words how this makes me feel. So what I want to do is share with all of you the moment we told Mason. This moment is a moment I will absolutely cherish for the rest of my life.  The night this video was taken Mason went to sleep with nothing but a smile on his face. Our Journey with Mason is far from over; he will always have a lung disease and therefore always have struggles. For now I’m taking this as a win, a giant step, a positive move toward the future. I hope you all will enjoy sharing in this moment with us!

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!