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!

Procedure Day

Mason’s procedure day was one that we had all been dreading for a long time, although we knew how necessary it was.  We prayed for all to go well in the operating room, Mason to recover well and for us to get answers. ALL of this came true!

The day of the procedure Mason woke up a little extra early so I brought him to bed with me hoping to catch a few minutes of cuddles before the big day. Turns out I got a good two hours of cuddle time and I loved every minute! We arrived at the hospital and went through the check-in process. Once we were back in pre-op the nerves started settling in. Mason was in his little hospital gown and all the doctors were coming in to discuss their part of the surgery. This was real. This was scary. Then an amazing, wonderful, totally unexpected thing happened. We look up to see Jonathan’s parents peeking in the door at us. Mason immediately said “Gama…Paw Paw” and smiled; I’m pretty sure I got a little teary eyed. How wonderful it was to have actually real life hugs, support and love there for Mason, Jonathan and I.  How amazing are they, and how blessed are we? Jonathan and I were allowed to go back with Mason to the operating room and be there with him until he fell asleep. I’m a huge, wimpy, probably would have cried like a blabbering fool, baby….so Jonathan got the Dad of the Year award and went with our sweet boy. Next was the waiting room, each doctor would come out after their part to discuss results.

The pulmonary bronchoscopy was pretty straightforward. They went in, everything they look at looked normal. They retrieved fluid samples from the lungs to test. Mason did great.

Next was the ENT doctor going in with his scope. He found that Mason’s adenoids looked fine so he left them alone. He did find that Mason had a Type 1 Laryngeal Cleft. He injected a polymer to fill the cleft. In a couple weeks we’ll need to do another swallow study to see if this helps and then start thinning liquids. If Mason is able to drink regular liquids we’ll know this is the issue and we’ll need to come back in 2-3months when the polymer has dissolved and have the cleft surgically repaired.

The last part was the hour-long wait that felt like a year; the biopsy. Mason did amazing! The surgeon said he was able to get two great samples and that, to the naked eye, the lung tissue looked great and it felt great. This is all we could hope for from a biopsy. Mason has two incision sites with steristrips (Like a heavy duty band aide/patch) on them that will eventually fall off. He also has one larger site that has gauze and tegaterm covering it; this can be removed 48hrs post op. That’s it, and all stitches are dissolvable, no wound care of any kind. Isn’t this crazy? This kid had a lung biopsy and has three little ouchies that really require no care and will be better in no time. This hospital, and these doctors have it down to a science and I’m SO grateful to be here!

When we went to see Mason in the recovery room he snuggled right up in Mommy’s lap and passed out. He pretty much stayed snuggled up to me for the next 6hrs with little breaks here and there to snuggle Gama once and Daddy once. Oh, and once to wake up and scream for his balloon which he grabbed with a death grip and slept another solid 2hrs holding on to.  Once he had slept it off quite a bit he woke up and ate and drank a little and then was ready for night time. Daddy had a sleep over with little dude and he had a pretty good night. His saturation levels were dropping so they had to up his oxygen level, but that’s not unheard of after a surgery. The next morning he was bright eyed and bushy tailed trying to run everywhere. He ate a great breakfast and we hooked him up to portable oxygen to go for a walk. He smiled and waved at everyone we passed on our wing. I absolutely love this kid. He seriously has a smile and a spirit that just demands a smile back. Seriously, I dare you to try and be around him and not smile, it’s pretty impossible! Anyway…enough bragging about my supper adorable Mason. We were released before lunch, less than a 24hr hospital stay after a LUNG BIOPSY. I’ll take it!!!

            

Mason’s Journey has taken us to Denver!

I am going to do my best to keep everyone as updated as possible during our week here in Denver. With so much going on I’ll try to be concise and not stray to the path of information overload…no promises though….I can get carried away. So, lets get to it!

I want to start by saying how grateful we are to have all the loving support of our family and friends. I am so grateful to my dad for coming to Tulsa to stay with Jackson while we are in Denver.  Leaving Jackson was difficult but I know focusing on Mason is very important this week. We are lucky to be able to do all that we are doing because of the amazing family and friends we have!

          Sunday afternoon we hopped on a flight to Denver. We had Mason hooked up to a pulse oximeter during the flight and pretty much as soon as we started reaching altitude his stats dropped.  Mason’s oxygen saturation is pretty steadily at 94% in Tulsa so he has never required oxygen. His saturation dropped to the mid 80’s so on the oxygen went. I have to say I was quite impressed with how well he did for never having worn oxygen before, he tolerates the cannula very well. Other than a little turbulence the flight was uneventful and enjoyable.  Mason has continued to be on oxygen 24/7 while here in Denver (due to the elevation) and is adjusting well.

Mason admiring his stats mid-flight

            Monday morning we headed across the street to the beautiful Children’s Hospital Colorado. The hospital is only five years old and is absolutely amazing. It truly is beautiful both inside and out and the amenities and staff are wonderful.  We were greeted by our welcoming coordinator upon arrival. She was so very sweet and she took us to our fist appointment. She had a nice arrival bag full of goodies; including a super soft bear for Mason. She will meet us downstairs every day to show us to our appointments and she offers to plan visits to the zoo, aquarium and other locations. Maybe she does this for all patients, but I’m just guessing it’s because Mason is so stinkin cute and special! Honestly though, the hospitality of this hospital is out of this world.

            Our first appointment Monday was with Dr. Deterding.  She was exactly what we expected after doing our research; kind, caring, knowledgeable and passionate about chILD.  She feels that his case presents itself in a way that is very typical for NEHI.  She believes the infant pulmonary function test (iPFT) scheduled for Tuesday will follow a “pattern” she sees in NEHI patients and the biopsy Thursday will hopefully confirm.  Her goals for this week’s visit is to reach a diagnosis, develop a treatment plan going forward that gets him off his steroid and to address the aspiration issue. The first two she will take care of. The aspiration issue she wants an Ear Nose & Throat doctor to assist with.  We meet with the ENT Tuesday.  Our appointment with Dr. Deterding was great and we are so blessed to have her on Mason’s team and we look forward to continuing to work with her.

            Our second appointment Monday was with the surgeon that will be performing Mason’s lung biopsy.  The surgeon was very nice and I am extremely confident in his ability to perform, he does this quite often. I would be lying, however, if I said I was “comfortable” with the procedure. I know they do this often, I know we are at an amazing hospital, probably the best one to be at….I still don’t like it. First they will look at Mason’s CT scan from December to pick where they will sample. Two samples about 2cm each will be taken from Mason’s lung. There are three incisions; one for the scope to observe and navigate and two for tools for the actual biopsy. The lung will be deflated for the biopsy then re-inflated with the scope still in place to make sure it all looks ok. Immediately after, and again the next day, an x-ray will be taken to check on everything. The pathology for the NEHI diagnosis should take less than 48 hours. This procedure has my anxiety level through the roof already; Thursday is going to be tough.

            Tuesday we went to meet the ENT in the morning.  We discussed Mason’s issue with thin liquids and how he never actually showed aspiration on a swallow study. The ENT will go in with a scope Thursday and look for a physical reason for the aspiration. There is a chance that he has a laryngeal cleft. If he sees this he will spray a type of polymer to seal the opening. Over the next few weeks we would then try thin liquids with Mason and observe how he does. If this seems to be a fix for his aspiration we would need to go back in and have a surgery to medically “fix” the gap because the polymer is a temporary fix that will eventually dissolve.  While he is in there he is also going to look at Mason’s adenoids to see if they are enlarged. He believes this could be the cause of Mason’s thick mucus. If the adenoids are enlarged the mucus would get trapped in the nasal passage instead of running freely down the throat and, as a result, gets dehydrated by breathing and therefore thicker. If he finds this to be the case he will remove them while he is in there.

Pictures of what he is going to be looking for on the laryngeal cleft in figures 15 & 16 of the link: http://cdn.intechopen.com/pdfs/24338/InTech-Endoscopy_in_the_evaluation_and_management_of_the_pediatric_airway.pdf

            Tuesday afternoon was the iPFT. We kept Mason awake all day before the test so he was good and tired. They gave him a moderate sedative and he was out. After he was nice and passed out in my arms I took him to the room with the iPFT machine. Jonathan and I were able to watch from the other room as they performed the test. He stayed asleep wonderfully although barely fitting in the “infant” size glass box. The test took about an hour and they brought him back to momma. He was passed out in my arms for another good 45min before we tried to arouse him. He was not having it, we poked and prodded him and he was out cold. Eventually we got him undressed and sat him up and he started to come to. Seeing your 1.5yr old loopy as can be is little funny! The nurse that performed the test analyzes the data then sends it to the iPFT doctor who makes some notes and then sends it on to Dr. Deterding. We should get the results either Wednesday or when we see her for the procedure Thursday.

Mason in the iPFT machine

Sleeping it off

            So far everything is going pretty well here in Denver. The hospital and multiple doctors and nurses we have met have all been amazing. Being at a hospital that has such a team approach is remarkable. As Jonathan put it today “This hospital is amazing, it’s like a one-stop-medical-shop!” We couldn’t be more pleased with our decision to come here. Wednesday is our day off so we plan to take Mason to the aquarium and hopefully the park in the afternoon. Thank you everyone for your continued thoughts and prayers this week. The anxiety and fear for Thursday is really starting to set in with me. Knowing Mason has such a support team through all of you helps calm my mind a little. Most importantly, though, is my wonderful husband. Thank goodness for his cool, calm and collected nature. I know this all weighs heavily on his heart too; but at least he can hold it together better than me!

Much love and thanks to you all!

This long , winding and inconclusive road is FINALLY (fingers crossed) coming to and end!!

First , let me get you up to date: Mason’s genetic tests for surfactant deficiency all came back negative! This is great news because it gives us hope that his condition may not be life long and/or life threatening. However it also means we still don’t have an exact diagnosis.

Now onto the next BIG, HUGE, EXCITING, SCARY step…….

As I mentioned in my last post, we have been in contact with Dr. Deterding from Children’s Hospital Colorado.  I think I can pretty confidently say she is in the top three, if not the leading, doctor involved with chILD.  Jonathan has been working very diligently with our doctors here in Tulsa and the team in Colorado to get all of Mason’s medical files transferred. After reviewing all the information, our doctor told us the stack was about a foot tall, Dr. Deterding has agreed she needs/wants to see Mason. In fact, she wants to see him next week. So on Sunday afternoon Jonathan and I will be heading out with Mason to Colorado! This is not going to be an easy trip for several reasons yet we are excited to go and we are determined this will be the end of our road to diagnosis of Mason.  Mason has always been borderline on needing oxygen but since the altitude of Colorado will likely bring his saturation down 3-4 percentage points he will need it at night and possibly 24/7 depending on how he does. We have an oxygen saturation monitor we will be using to make sure he is doing all right. Mason has never worn oxygen so this may be an interesting challenge. Here is our schedule for the week:

·      Monday morning we will meet with Dr. Deterding for the first time. She conducts chILD clinic days that day. I’m very anxious to hear what she has to say about Mason after reviewing his files. We also meet with the surgeon that day to discuss Mason’s procedures.

·      Tuesday afternoon Mason will have a iPFT (infant pulmonary function test) done. Here are two links explaining the iPFT:

http://www.cincinnatichildrens.org/health/p/pulmonarytests-infantfunction/

http://www.youtube.com/watch?feature=player_detailpage&v=ja-L-INvd0c#t=75s

           

·      Wednesday we actually have free. Hopefully we’ll find some fun, germ free, activity to do with Mason!

·      Thursday is the big, scary, exciting, nerve wrecking day. Mason will have a bronchoscopy (this will be his 3^rd so I’m good with that) and a lung biopsy. I wish so very much that he didn’t have to have this biopsy or that I could somehow have it for him. However I know that this is our last resort.  We have exhausted all other options and this is our best shot at getting a diagnosis. I know that Jonathan and I made this decision with a heavy heart but a very sound mind; that doesn’t make it any easier. I dread this day but I also look forward to the knowledge it will hopefully bring us.

·      The next few days will be all about recovery for Mason. I’m confident in the doctor’s abilities and I know how strong Mason Man is. We got this!

This week in Colorado is something Jonathan and I have been hoping for yet dreading for some time now. Being able to meet with such an amazing team that has expertise in chILD is absolutely invaluable. To think that at the end of all this we may have a diagnosis of which chILD disease Mason has is so very exciting. With that information we can better understand what his future looks like and we can create and implement the absolute best treatment for him. I want nothing more than to know I’m doing the right thing and everything that I can when it comes to Mason’s health and well-being.  Mason will be wearing oxygen & saturation monitors, he will have test & blood work done, he will be seen by many doctors and after all that have a lung biopsy. I hate that Mason is sick. I hate that we don’t know exactly what disease Mason has. I hate that to find out we must go thru all this. I hate that I can’t take his place. However I know that Mason is a strong, loving, sweet, precious boy that will get thru this. I also know that so many of our dear sweet friends and family reading this blog will be sending up prayers to surround Mason throughout the week and especially on Thursday. I hope you all know how much you are appreciated!