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Maverick was born March 24, 2017, after an uneventful pregnancy (well, besides the endless heartburn…but look at all that hair!) He was due on March 25, but the last ultrasound indicated his weight to be about 9 pounds, and his head size was off the charts. He had a normal delivery and was born at 8lb, 10oz. He was very alert and just as cute as he could be! We spent a couple of days in the hospital and were sent home. Everything seemed perfect, until it wasn’t.
At the time, we were living with my parents, so we had as much help as we wanted, which was a huge blessing. When Maverick was 6 days old, Trevor had to go back to work, and this was the first day I was to be home alone with Maverick. As a first-time mom, I was terrified! Maverick had been a little more fussy the night before, but slept ok. I woke up with Maverick at 6 am, and when I tried to feed him, his little body went tense, and he held himself in the fetal position. I ran him upstairs to my mom, who took him and tried to soothe him. He was fussy, not wanting to eat, and continued to tense up every couple of minutes. She thought he might have a tummy ache, so we gave him some gas drops, and he was dozing off as my mom left for work.
Not too long after that, Maverick woke up and continued tensing up, refusing to eat. My mother-in-law came over, and we took Maverick to the pediatrician, where they told me that this was unusual but assumed it was something related to acid reflux. We went back home with prepackaged formula bottles and had no luck. Things were progressively getting worse. I called the pediatrician back, and they said it was time to take him to the ER to have him checked out. On our way there, I was watching him bear down (looked like he was really constipated and couldn’t poop), and it was getting more and more frequent.
I have never felt more helpless in my life. Our families came to the ER with us, and we sat for a couple of hours waiting for answers. They took his temperature, noticed that it was low, but they blamed the thermometer. They took his blood pressure, which was also low, but again said it was hard to read because he was so small. They continued to tell me it was acid reflux or gas, and just kind of brushed us off as anxious new parents.. We were getting desperate, begging them to come back and check on him! At this point, he would bear down and go limp while we saw his body and face changing colors from blue, yellow, and gray.
Thankfully, I had a friend who worked as a nurse at my pediatrician’s office. I sent her a video of what Maverick was doing and how his face was changing colors. She showed the video to our pediatrician, who called the ER doctor to see what was going on. At this point, they finally called a pediatric ER doctor to come and check Maverick.
After a couple of minutes, we were taken to a bigger room. Our new ER doctor came in and checked Maverick’s blood sugar, which was extremely low. He watched Maverick tense up and asked the previous doctor, “How long has he been doing that?” She responded, “The whole time they’ve been here.” And within a second, our bigger room was flooded with multiple doctors and nurses. I was convinced we were watching our baby go to heaven at this moment. I remember them bagging him and transporting him to the PICU.
That night, we had friends and family waiting and praying with us as we watched our little guy continue to have seizures, one after another. He had not slept or eaten all day. They had Maverick hooked up to everything: EEG, EKG, IVs, and they were taking vial after vial of blood to hopefully get some answers. They told us they were going to do a spinal tap and asked us all to go out of the room. I remember praying, “If it’s time for him to go, please take him quickly.” I was having such a hard time watching him look so miserable, and not being able to even hold him. The first doctor in the PICU put him on Seizure medicine, which should have stopped or at least slowed down the seizures. When that didn’t work, he was baffled. His shift was over, but he sat outside our room for hours trying to come up with answers for us, and to fill in the morning shift as to what he tried and all the tests he was running. We could tell he truly was upset that he could not make our little guy better.
The next day, our family came up to sit with Maverick and told Trevor and me to go take a walk and eat something. Before we left, Dr. York, our saving grace… told us the last resort was to try B6. She explained that she had heard about a disorder that could present like this, and if it worked, it would be a miracle, and if not, it wouldn’t hurt him. She said most likely it wouldn’t, and then they would have to move Maverick to St. Louis Children’s Hospital. We left and went for our walk, and within 30 minutes, my mom called and said, “You need to get up here right now!” We rushed back up, and Maverick was asleep… His body had gone into a natural coma from not sleeping or eating for 36 hours. My mom told me that she was holding his hand, and all of a sudden, he had just gone limp. The nurse was in the room, but was charting at the computer, so my mom asked her to see if Maverick was ok…The nurse checked him, said he was ok, and RAN out of the room to tell the doctor it had worked!!
We were so relieved just knowing that our baby was able to rest. From there, we took everything day by day. The doctors were still trying to get answers and took so much blood. He was doing better, but his heart rate was all over the place, and he had lost a lot of his color. They were giving him IVs, and he had a feeding tube in his nose. He wasn’t bouncing back like they expected and it still very concerning. After 4 days, they decided to do a blood transfusion, and after that, Maverick made his comeback! Within 2 days, he was eating again and starting to gain weight. (He had gotten down to about 71/2 pounds during his hospital stay.) Eventually, we were told that Maverick was being treated for a Genetic disorder called Pyridoxine Dependent Epilepsy or PDE. They were sending his blood for genetic testing to verify this, but were 90% positive that it was his diagnosis. They really didn’t have much information to tell us about this disorder, as it was pretty rare, but we were to follow up with a geneticist. After 2 weeks in the hospital, we were able to go home with a prescription for B6, leucovorin, arginine, and a seizure medicine that we were able to wean off.
The genetic test confirmed Maverick did have PDE. We were sent to St. Louis Children’s Hospital to work with a geneticist, Dr. Shinawi, and his team of dieticians who were already treating an incredible little girl with PDE who was older than Maverick and thriving. It was so nice to finally hear someone talk about PDE who actually knew what it was, and who was dedicated to making sure their patients were getting the best care they could provide. Maverick did have a few episodes of febrile seizures in his first few years. We have been followed closely with a neurologist to make sure we are watching and prepared for anything to happen. Maverick to speech therapy, physical therapy, & occupational therapy to make sure he had the best head start he could have when he started school.
Now, Maverick is 8 years old and in 2nd grade! He is the kindest, most creative boy who loves anything with wheels, planes, and building with magnets. Maverick is currently in PT and OT and receives services through school to help him reach his full potential. He loves to climb and swim! Maverickis a great big brother to his sister, Lucy (5), and lets her boss him around most of the time!
Finding CurePDE and all the families who have gone through what we have has been the biggest blessing. We are so thankful for this community and the beautiful stories of hope! The work that CurePDE is doing to have this disorder added to the Newborn screenings is wonderful. PDE is easily treatable if caught early, but devastating if not. If this would help one family not to have to endure the trauma that many of us have gone through, it is well worth it! We are so thankful for all the research they are doing to find better treatments, and even a cure! What a blessing to be a part of the story.
