|Rylee's Story: Road to Diagnosis|
My whole pregnancy I prayed for a healthy baby. On June 14, 2008 my perfect little baby boy, Rylee entered our lives. He was over 8 pounds and seemed perfectly healthy! That night I could barely sleep watching him breathe and thinking how precious he was. I had a cousin who died of SIDS so was paying extra attention to his breathing. Was his breathing fast or was it normal for a new baby? How should a newborn baby be breathing?
The next morning the nurse took Rylee to be circumcised. The doctor kept him longer for observation afterward because he also had concerns about his fast breathing (a condition called ‘tachypnea,’ pronounced ‘tack-IP-nee-a’). They returned him to us and just told us they would just keep an eye on his breathing. I started to nurse him around 17 hours of birth and felt like he was panting. I looked at my husband, Ryan, and told him something wasn’t right. Ryan called the nurse who instantly took Rylee to the neonatal intensive care unit (NICU) where the level of oxygen in his blood was measured. His blood oxygen saturation levels were very low, so he was then placed on oxygen. We spent 13 days in our local hospital with Rylee receiving oxygen, breathing treatments, antibiotics and breast milk through a feed tube in his nose. Ryan and I were fortunate to be able to stay in a hospital room just down the hall from Rylee’s room. Each day we sat with him in the NICU praying for him to get better. Each night I would sleep a couple of hours and awake to walk down to the NICU to visit my baby. On rare occasions we were given the opportunity to hold our baby. Finally, our local hospital decided they could not explain our son’s fast breathing, low oxygen saturation levels and coughing. They transferred him by ambulance to the University of Iowa hospital.
Ryle was placed in what looked like a little oven to transport him by ambulance. We followed the ambulance the whole ride; it was the longest 2 ½ hours of my life. For the previous 13 days I had been able to check on him at any second of the day to make sure he was okay and now all I could see was the back of the ambulance he rode in. The doctors at the University of Iowa were also mystified by him. Was it pneumonia, persistent tachypnea of infancy, cystic fibrosis, children’s interstitial lung disease…?? So many frightening terms and each doctor seemed to have a different idea about what was wrong, but it was clear that no one really knew. After being in Iowa City for 12 days, we were sent home with Rylee on a ½ liter of oxygen, an apnea monitor and with ‘pneumonia’ as our only explanation.
Living at home during the next few weeks our life took on a familiar pattern. We would wake up and Ryan would move the oxygen tank and 25 foot cord from our bedroom to our living room. There I sat every day with our little miracle baby, restricted from moving too much by the cord that connected him to live-saving oxygen. I held him and wondered why he sounded so ‘junky’ all the time? Why did this little baby cough all the time? Why did he have so much mucus in his nose? Why did he need oxygen? Why was he on an apnea monitor? What was wrong with my baby?
Over the next 6 months we returned to Iowa City for appointments and to try to get an explanation for what was wrong with Rylee. Each time we saw a different pulmonologist, who would often re-order the same cystic fibrosis (CF) tests that had already been negative before. They were convinced it must be CF. Finally we asked to transfer hospitals as we felt we weren’t getting the answers we needed. Our next trip was 7 hours away to Chicago, Illinois, where Rylee had DNA testing that seemed to finally provide an answer. He had a mutation in a gene called ABCA3 that had been linked to surfactant protein deficiency and interstitial lung disease. Over the next year, interstitial lung disease was his presumed diagnosis. His treatment consisted of oxygen 24/7 to control his fast breathing. We were eventually able to stop using his apnea monitor and we had longer oxygen cords brought to the house so we could finally move around without so much restriction.
Then we got some frightening news—our insurance was changing and the new company would no longer pay for us to go to Chicago. We needed to switch to a new pulmonology group. I was very nervous about this change, but what I thought was going to be the worst change ever, turned out to be the best. Our insurance would cover visits to St. Louis Children’s Hospital in Missouri, 6 ½ hours from our home. The doctors in St. Louis wanted to be prepared for our first visit and asked my husband and me to send DNA samples prior to the visit so they could evaluate our ABCA3 status. We received shocking news at our first appointment in January of 2010. Ryan and Rylee had the same ABC-A3 mutation, but I did not carry an ABCA3 mutation. Since ABCA3-related interstitial lung disease is thought to be recessive, both parents must contribute a mutation, so the affected child carries two mutations. Rylee only had one mutation and the St. Louis specialist did not think one mutation would not cause the problems Rylee was having. We were back to not having an answer. I felt lost again. We had waited 6 months for an answer and finally got one. Now our baby was 18 months and we were back to square one!
However, while the doctors in St. Louis didn’t think interstitial lung disease explained Rylee’s health problems, they thought they knew what did. As an expert center for PCD research, they had seen this pattern before and they believed it was the result of a different recessive genetic disorder called primary ciliary dyskinesia or PCD. What? We were stunned. In the last 18 months we had seen countless doctors but no one had ever mentioned this disease to us. What did it mean? Could he really have this? In March 2010 we returned to St Louis where a nasal biopsy was done to evaluate for PCD. On Rylee’s 2nd Birthday, we received the results. It was confirmed by 3 independent experts at the primary PCD research center in the country, the University of North Carolina at Chapel Hill--Rylee did have PCD. I felt in shock. It had taken us two years to finally get a confirmed diagnosis. Now that we knew what was wrong, we needed to figure out what this would mean for Rylee’s future.
We learned that there is currently no cure for PCD and that treatment would be aimed at preventing lung infections and delaying the progression of lung disease. Rylee would need antibiotics when he had infections in his lungs, ears or sinuses and other drugs to keep his airways open and help thin mucus. He would need to wear a vest device that provided high-frequency chest wall oscillation (HFCWO) therapy every day to help keep his airways clear. Wow, did we see a difference in him in a short amount of time after starting HFCWO therapy! He no longer seemed junky all the time. He wasn’t sick and his reliance on antibiotics decreased. HFCWO therapy really did wonders for Rylee! Also, we were instructed on the importance of cough for Rylee, so we were constantly encouraging him to cough. Rylee was naturally a very active child and we encouraged his activity, noticing that running around made it easier for him to cough out mucus. We also starting putting Rylee on antibiotics for longer periods when he needed them to make sure infections were fully treated. This cut down on the roller coaster of needing to go back on antibiotics after a couple days of finishing a typical course. Now he is on antibiotics for 20 days to make sure the infection is killed before he comes off, which seems to have helped him.
Since the diagnosis of PCD, his health has been much more stable and we have had better control of it. We have not made an ER visit or had a hospital stay in the year since his diagnosis. He is also no longer on oxygen during the day. Yes, this is a lifelong disease for him that he and our family will always live with; however, I feel that having the answer and knowing what we are fighting makes it easier for us to plan for his future health needs.