By Natasha, Congenital adrenal hyperplasia, United States, November 15, 2017

10 Week Old David

My Son, Gavin was born and appeared to be a perfect healthy baby on August 28th 2017, weighing in at 7lb 8oz. Three days after being discharged from the hospital, my phone rang, on the other end was his pediatrician giving me results from his newborn screening. She told me my perfectly fine baby needed to be rushed to the emergency room right now. She explained the screen came back positive for Congenital Adrenal Hyperplasia. My head was spinning. Congenital hyperwho? That must be a mistake. She explained it is very rare and not to panic, these tests are often false and it could be nothing. She did say that the effects of CAH will not be seen until 10-15 days after birth, so I need to take him to be admitted and monitored. OK, fine. I took him in. The first few days in the hospital were frustrating. I should have been home spending time with my son and learning to be a new mom. He seemed just fine. I spoke with several doctors and nurses. None of the nurses even knew what CAH was and they were relying on google just as much as I was. The pediatric Endo spoke with the regular pediatrician over the phone frequently. It seemed like all they were doing was taking his body weight in blood. Around day 13 nurses rushed in our room and explained to me my son had to be transferred to intensive care. What? He’s fine, look at him! But they explained to me his potassium was very high, at that time it was 6. In intensive care they did albuterol breathing treatments to keep his potassium at a manageable level. A couple days later, his electrolytes were still not getting better, in fact they were getting worse. Meanwhile, Hurricane Irma was about to rip through south Florida and the hospital we were in was expected to be in catastrophic territory. The doctor came in after about a week and half of being in the hospital and explained to me he has no reason to believe this is Congenital Adrenal Hyperplasia. He says there is definitely something going on, most likely with his kidneys and he needs to see a pediatric nephrologist. We were going to get transferred to another hospital the next day.

This is when the nightmare really started. I noticed around 10pm, Gavin wasn’t waking up much and he wasn’t eating. I called in the nurse and my exact words were "I believe my son is sick now." she assured me he is just very sleepy. I didn’t sleep that night. I was holding my son and watching him sleep with his eyes open and rolled in the back of his head. When I tried to feed him, formula just dribbled back out of his mouth. He was breathing slow and not waking up. I had no idea that I was holding my dying son. I started harassing (for lack of a better word) the staff to get me transferred to a different hospital that was more equipped to deal with him. The nurse came in and explained to me that I have two options to get out of there. 1. I can AMA with my son and drive him to a hospital in Orlando that would accept him. or 2. I can pay 3,000 for a private ambulance to drive him. At this time my sons color was draining from his face, he had black circles under his eyes and his urine output had decreased. I asked about his most recent bloodwork and the nurse shared with me his potassium was at an 7.6. I explained to her that I can use google and know what that means. There is NO WAY I’m going to travel during evacuation traffic. Orlando is normally a 2 hour drive, the news indicated it was about 5.5 hours because of the impending hurricane. I decided to find a way to come up with the ambulance money. I ran home to pack myself a bigger bag and prepare to be out of town and living in the hospital for an extended amount of time. The doctors were saying kidneys, so I was thinking transplants and waiting and everything that goes along with having a sick baby and no idea what’s wrong.

On my way back to the hospital one of the nurses calls me and tells me the hospital in Orlando agreed to send a chopper and airlift him. His potassium went up to an 8.2 by this point. When I arrived back to the hospital the medical team from the other hospital was there and prepping my baby for takeoff. Only a few days old and already going on his first helicopter ride. I gave him a big hug and a kiss and laid him in the baby transport device to prepare for takeoff. He never even opened his eyes or responded to my pleas for him to please just wake up and look at mommy to say bye. Setting him in the plastic bassinet and saying goodbye was the hardest thing I’ve ever done in my life. He was just a few days old. I shouldn’t be separated from my baby yet.

It took me 5 hours to get to the hospital. On the way there a doctor from the children’s hospital called me to let me know Gavin arrived safely and to prepare me for what I was about to see “You have a very sick little boy” He says. He let me know that he is hooked up to an EKG, there is an IV in his head and they placed in a feeding tube. My healthy 7lb 8oz. baby boy was 6lbs even and severely dehydrated. They were monitoring him for brain damage because of his low sodium and it was believed he was having seizures in the chopper on the way to the hospital. But, there was good news “We believe he know exactly what’s wrong with your son and we are treating him for Congenital Adrenal Hyperplasia, I will explain when you arrive.”

I got to the hospital and ran to the third floor NICU. As soon as I made it through the doors, I heard a nurse say, “this must be Gavin’s mom” and they escorted me to his back room right in front of the nurses station. The sight of my baby in an incubator with tubes and wires is something that will never leave my head. The doctor was there waiting for me. He began by explaining to me my little boy was in critical condition due to an adrenal crisis. This condition was avoidable if he had been treated from the beginning. He educated me on CAH and told me I have a lot to learn. The hospital had private NICU rooms, so I was able to stay by Gavin’s side for the remainder of his hospital stay. That night, before bed a pediatric endocrinologist came in and explained more of what CAH is. He said although we are not out of the woods yet, his electrolytes are getting better. He explained to me that Gavin’s potassium was at a 9 upon arrival; incompatible with life, he said.. They believe he was having seizures due to his sodium levels. If we had arrived 30 minutes later, the unthinkable could have occurred. I cried myself to sleep that night because I wasn’t able to protect my boy from this. I had no idea what CAH was and I’ll always wish I had pushed the doctors more at the original hospital.

The next day I woke up and decided to go get coffee and some books to read. When I arrived back at the hospital the nurses were all standing around Gavin. I looked over and he was alert! They were taking his feeding tube out already. The doctor came to do rounds a few hours later and told me that my boy went from being the most acutely ill baby on the NICU to seemingly being the healthiest in a matter of hours. This lead him to be positive on the CAH diagnoses, even though the confirming labs weren’t in yet.

We stayed in the hospital another week, and Gavin got better every single day. I learned how to give injections, best methods to get an infant to take pills, and signs for an impending crisis. I read everything I could about CAH and became confident I could manage this and take care of my son. Although over whelming, I knew I could handle it. Today, Gavin is a perfectly normal 12 week old. He is up to 13 pounds and thriving. He is truly the happiest baby I’ve ever seen. I like to think he is just thankful to be alive. We have had a few situations where he needed a little extra hydrocortisone. But, I have learned mother’s intuition is one of the strongest things in the world. Having an infant with CAH means you need to trust our instincts since they can’t talk to you yet. It gets tricky differentiating between normal newborn behavior and CAH, but it’s doable. I believe Gavin has this condition because God knows as mother, I can take care of him. I fully intend on making sure he lives a completely normal life, all while wearing a medical ID bracelet.

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