Summer Health Update 2022

Last Thursday morning we set an alarm for 4:00am and got ready for our first inpatient hospital visit with Rowland. I was on autopilot and oddly at peace about the entire situation. I had many people praying for us and so for me, I felt like the prayers were working. In addition, I felt a lot of relief  knowing we would get some answers soon because these past two months have been a bit rough for us. Rowland’s weight gain plateaued over the summer and he has been occasionally vomiting, however the vomiting has only been occurring at night. Weight gain is extremely important for those living with Cystic Fibrosis as it correlates with better lung function. While my suspicion was that Rowland’s slow weight gain and vomiting symptoms were the result of reflux and delayed gastric emptying, my fear was it could be something worse. 

Delayed gastric emptying is when the stomach takes too long to empty its contents. We had the opportunity to do a delayed gastric emptying study a few weeks ago where a healthcare worker put a radioactive ingredient in Rowland’s bottle that he drank. From there we took pictures of Rowland’s stomach every ten minutes for an hour. The results found that his stomach takes about twice as long as it should to empty. For Bry and I, these results were not surprising as it made sense to us. Symptoms of delayed gastric emptying include vomiting at night and feeling full after a few bites. These symptoms have been consistent with what Rowland has been experiencing. 

Despite already having abnormal delayed gastric emptying results, we decided to also go through with additional procedures for Rowland– an endoscopy, laryngoscopy, bronchoscopy, annual lab draws, lab draws for potentially starting a modulator, an allergy test, a nasal brush for a theratyping study, and a pH probe study.  Now, what the heck does all of this mean? For anyone who has read this far, and is interested in details (like I am), I will break down the purpose of each procedure or lab draw.

Endoscopy- An endoscopy is when a doctor inserts a camera into the esophagus to examine the esophagus, stomach, and beginning of the small intestine. This was one of the most important procedures for us since Rowland has been having some gastrointestinal issues. For the most part, everything looked good. The doctor noticed some patterns in his esophagus that may be associated with reflux and discovered that Rowland has a hiatal hernia. According to the doctor, a hiatal hernia is rather common and not something to worry about, however it can be associated with reflux. 

Laryngoscopy- A laryngoscopy is when an ENT (Ear, Nose, Throat) doctor uses a camera to examine the airway, and nasal passages. We opted to do a laryngoscopy to see if anything in those areas were causing his vomiting and/or lack of appetite symptoms . While reflux has always been the suspicion, we were not able to confirm reflux until these procedures. We had been giving Rowland a medication called Omeprazole, a proton pump inhibitor, and I didn’t believe that it was impacting Rowland positively- his symptoms (a cough, and raspy sound in throat) did not ever go away when he was taking Omeprazole. This led to one pediatric gastroenterologist (GI) to theorize that maybe it was not reflux and hence we chose to do this procedure to ensure it wasn’t ear, nose, or throat related. Thankfully, everything looked good. 

Bronchoscopy- This is a procedure where a doctor looks at your lungs and air passages. Since Rowland has not had lung issues, it was not necessary to do this procedure at this time, however since we sedated Rowland for his other two procedures, we opted to add this one on instead of having to do another sedation procedure later. A bronchoscopy is a routine procedure for individuals living with Cystic Fibrosis and so Rowland would have had to get this procedure done eventually to check and make sure his lungs are good. I was very relieved to hear that Rowland’s bronchoscopy results were great. There was very little mucus in his lungs and the mucus that was there they sucked right out. In addition, they took a sample from the bronchoscopy to ensure he didn’t have any symptomless bacterial or fungal infections. Normally during our routine CF appointments, Rowland will have his mouth swabbed to test for bacterial and fungal infections, however those results are not perfect and sometimes you can find stuff in your lungs that was missed by the swabs. Fortunately, Rowland’s results came back clear. My hope and prayer is that we can continue to have clear results so Rowland can be put on a modulator while his lungs are healthy. 

Annual Lab Draws- Rowland will have to do annual lab draws every year. Unfortunately some of Rowland’s lab results were off. The pulmonologist and nurse were not too concerned but did share that they would monitor and possibly redo some of the draws. Rowland did have a viral infection when this all happened so my hope is that his illness threw off some of his lab results.

Lab Draws for starting a modulator- This could be a whole blog post of its own and if you don’t know what a modulator is, I have a few previous blog posts explaining what it is and why it’s so important for Rowland to be on one. We are trying to start Rowland on a modulator called Kalydeco. It is not FDA approved for Rowland’s mutation, but a case study came out very recently of a child with one of Rowland’s mutations who was able to get approved for Kalydeco through compassionate use. They share evidence in this study that Kalydeco is working for him. I shared this information with our CF team who agreed it may be beneficial to start Rowland on Kalydeco since there is a case study of Kalydeco working with the H609R mutation Rowland has. There are a few routine procedures we need to do prior to starting him on Kalydeco. First, we need to do extra lab draws to test his kidneys and we need to go to an ophthalmologist to evaluate his eyes for cataracts. From there our team will write a letter to our insurance company explaining why Kalydeco would benefit Rowland. Then our insurance will either approve or reject the request. It is unfortunately not guaranteed that it will be approved. I will have to write a separate post about this situation and I will keep you updated.

Allergy Test- One of the theories was that perhaps Rowland’s symptoms are the result of a dairy allergy. This theory seems to be unlikely as there would be times I would feed Rowland dairy, and he would be fine. Other times I would feed him dairy and then he would vomit at night. I haven’t seen the results of this test on our portal yet, but my suspicion is that he is not allergic to dairy.

Nasal Brush for Theratyping Study- I wrote a previous blog post about the challenges we will have to overcome in order to get Rowland on the miracle drug, Trikafta, a modulator. If you’re interested, the post is called, “Next Steps.” Well, we did a nasal swab brushing on July 28th to collect cells from Rowland’s nose. Rowland was not sedated during the collection and therefore it can be more difficult to successfully extract the nasal cells. These nasal cells are important because they are sent to a lab that will grow the cells for three to four months and then test them against the four modulators that are currently on the market to see if they respond. If there is a response, we are one step closer to getting Rowland on a modulator. Unfortunately, the July 28th sample became contaminated with a fungus after three weeks of growth in the lab. It was a huge bummer! We had the opportunity to try again while Rowland was sedated. Our hope is that this new sample will grow successfully in the lab.

pH Probe Study- A pH probe study uses a thin probe in the esophagus that connects the mouth to the stomach. It measures if reflux is occurring in a 24 hour period. Typically the pH probe study can be done at home after it’s placed inside the nose.  Our GI suggested that we may want to stay in the hospital for monitoring since Rowland appears to be a strong 14 month old that could pull the pH probe out of his nose, so we opted to stay in the hospital. Unfortunately, around the 10 hour mark, we turned around for a few seconds and Rowland ripped the pH probe right out of his nose and we were unable to complete the study. At least we didn’t have to spend the night in the hospital. We were all exhausted by that evening. Our doctor explained that technically anything before the 24 hour mark is not considered a valid study, however in the 10 hours of data he read, there was clearly reflux occurring. 

Whew! That was a lot. In conclusion, I’m pretty relieved with the results and while I haven’t discussed the results with his doctors in detail yet (this will happen on Tuesday at his CF Clinic appointment), it is pretty clear that his symptoms have been the result of delayed gastric emptying and reflux. To add, Rowland actually got sick a few days before his procedure. He only had a runny nose, however the excess mucus was causing him to vomit every single day. I thought we would have to reschedule the multiple procedures we had worked so hard to schedule. Thankfully, since Rowland only had a runny nose and no cough or fever, the pulmonologist checked his lungs prior to the procedures and determined it was safe to go through with the procedures. Unfortunately, I do think it made recovery longer than normal and Rowland did get a cough and continued to vomit after the procedure. It was rough but we made it through. With the help of his twice daily nebulizer treatments plus an extra treatment to really kill off his cold (they tested what it was and it was a rhinovirus), I’m so happy to say he is no longer sick. While a cold isn’t a big deal to most, Bryan and I are relieved that Rowland has been able to overcome the two illnesses he has had in a normal time frame. 

Where do we go from here? Well, we started Rowland on medication to help his delayed gastric emptying. He has been on it for two days and he has been eating his solids more and he hasn’t vomited. We have also been recommended to put him back on Omeprazole, a proton pump inhibitor, however we are holding off until we can get some questions answered by Rowland’s doctors. For now, it seems like the medication for delayed gastric emptying is working and I believe that most of his symptoms have been from that. What’s most important to me is that Rowland’s symptoms are gone and that he continues to gain weight well.