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!