Author: simonetm

For those of you that haven’t heard, we had a beautiful baby boy early on the morning of Wednesday, May 13. I’m going to do a separate blog post covering how amazing bringing a kid into the world is but I just need to get the below post off my chest even though it happened after the birth.

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Friday – 5PM

“This is Kristin.”

I heard in the other room. We had just been discharged from Woodwinds Labor and Delivery unit and were still unpacking at home.

“Yes hi.”

I walked towards the sound of her voice coming from baby Luke’s nursery. We almost collided as she was walking out to get me. It was Luke’s pediatrician. Friday after 5PM, that’s a little odd I thought. Kristin sat down and put the phone on speaker. Luke’s doctor got to the point, his Minnesota Department of Health screening had come back with suspect levels related to a metabolic disorder called Medium-chain acyl-CoA dehydrogenase deficiency or MCADD. She explained that this was just a screening and didn’t mean he had the disorder but that further testing was needed as soon as possible to determine if he did. She asked us to go to the University of Minnesota Masonic Children’s Emergency Department to get labs done right now.

As we packed up the car and got Luke all ready to go, my mind couldn’t help but race. The feeling I got from the phone call was that this was out of an abundance of caution and we didn’t really have a reason to worry. Mostly I didn’t.

We got to the ER and only one parent was permitted to come in with Luke due to COVID. Kristin was still recovering from the birth so we decided I would go. I grabbed his little carrier and headed in, not what I pictured for our first Dad/son trip out of the house.

Our doctor had called ahead and we were brought back to an exam room and asked all the standard ER questions. It was tough being alone on day 1 with a newborn baby in the ER all by yourself. Frankly the tests were a nightmare. The nurses couldn’t find anywhere to draw blood so they spent what felt like an eternity tying to get a needle into a vein until they eventually just gave up and asked a lab tech to do it. The lab tech took some blood via an ankle prick and took some urine via a catheter. After three hours of mostly waiting, poking, and prodding we were back in the car.

Kristin and I chatted on the way home, we were both worried but still felt like it might have just been a fluke on the test. Kristin’s phone rang when we were about 10 minutes from home. My stomach jumped into my throat. She put it on speaker.

“Hi this is Tom from the emergency department at U of M Masonic. We just got some of Luke’s labs back. His blood sugar looks low and we need to retest it to see if it is still low.”

I spoke up, “We are 5 minutes from Woodwinds, should we go there to get it checked?”

“That sounds like a good option”

I took the next exit, the clock read 9PM. I could feel the anxiety rising inside me like an ocean tide. While waiting in the ER at Masonic, I had spent a fair amount of time reading about MCADD. It was an incurable genetic disorder and low blood sugar was a hallmark symptom. It was starting to feel less and less like his screening result was just a fluke.

Woodwinds knew we were coming and same as Masonic, Kristin was not allowed inside. I gave Kristin a hug and headed in. They tested his sugar right away.

“Still low, follow me”, the nurse said.

She led me back to an exam room where a Doctor stepped in and told me she had just talked to the Supervising Emergency Department Doctor at Masonic. They wanted Luke started on 10% Dextrose IV immediately to raise his blood sugar and then have us drive him back to Masonic.

A new challenge became clear immediately. Two emergency room nurses at a pediatric hospital couldn’t even find a place to draw blood for labs a few hours ago. All they do all day long is deal with pediatric patients and they couldn’t get it. How would Woodwinds, a hospital that doesn’t have a NICU and doesn’t specialize in pediatrics, get an IV in him?

They paged two nurses from the special care nursery upstairs and they got to work. Time ticked by as they poked place after place unable to get a needle in that worked. Eventually two different nurses came down to try and they wheeled in an ultrasound to help guide them. Since they had started my stress level had been rising steadily. 30 minutes had passed and I was pinned to the ceiling at this point. I couldn’t sit down, had a lump in my throat, and felt sick to my stomach. Masonic was 21 minutes away and as the clock pushed 45 minutes since they started trying I asked them to page the ER Doctor.

“This isn’t working, we could have been at Masonic where they specialize in caring for patients Luke’s age 20 minutes ago. At this point it’s seeming likely they might not ever get an IV in, is it time to cut our losses and get to Masonic?”

“Okay I’m going to call the ED at Masonic, I want their input and then we’ll make a decision. I’ll be right back.”

A few minutes later she returned.

“I just talked to the Masonic and they agree let’s get him to there. The transfer team is on their way right now should just be 10 or 15 minutes.”

“Transfer team? Does he need to go by ambulance?” I said.

“Yes, he’ll need to go via ambulance.”

I lost it. It felt like this whole thing was spiraling out of control.

“Does he need that? We want to do what you think is best but we can’t take him?

“I think an ambulance would be best”

I didn’t realize he was that bad. He needed to go by ambulance? Was he going to be okay? Were we going to lose our beautiful baby boy before he was even four days old? I called Kristin. She had ran home, packed me a bag and was waiting in the parking lot to take us to Masonic. I told her about the plans with the ambulance, we both broke down. Luke would be going on his first ambulance ride before he’s even spent a night at home.

The doctor returned. They had retested his blood sugar and it had gone up. She called Masonic with the news and they said we could bring him now as long as we didn’t stop anywhere. They were going to stop trying to place an IV and send us to Masonic. A tiny wave of relief came over me, we’d been drawing bad cards all night long and it felt like we just drew our first good one with his blood sugar going up.

The clock on the wall read 10:50PM, I got him all situated in his carrier and ran him out to the car. Kristin jumped in the back with him and I climbed in the drivers seat. There wasn’t much to say on the way over, we were both scared. It was hard to look at our little boy, who had no visual symptoms of anything, and think he had an incredibly rare incurable genetic disorder. We called both our parents. Neither of us could keep it together to explain what was going on so we took turns filling them in.

We got to Masonic and again had to part ways at the door. I kissed Kristin and she kissed Luke before heading in. Doing this alone made this whole thing so much harder. Kristin had to go sit alone at home all night wondering how her newborn kid was doing. I was alone at the hospital, watching Luke be poked and prodded and trying to keep Kristin updated.

We were lead again to an ER exam room, this time the charge nurse greeted me. She said she was sorry for what we had gone through so far and that Luke needed an IV and she had paged two NICU nurses to come down and place it. In the meantime she would try and place one herself but promised not to poke him unless she was confident it would work. She couldn’t get one but shortly two NICU nurses showed up who were able to get an IV placed in a matter of minutes. They took some blood for additional labs and put a urine bag on him before telling me to hop on the bed and taking us upstairs.

A nurse wheeled us down a long corridor to a bank of elevators. Despite being a hospital the area we were in had the feeling of a school after hours, mostly empty, mostly dark. The nurse pushed the button for the fifth floor. When they opened we were met with locked double doors with a sign saying “Medical/Surgical 5th South”. The nurse scanned his badge and wheeled us past room after room on the ward until wheeling us into a large private room with a medical crib in the middle.

Another nurse was standing in the room. She introduced herself as Karina and told us she was assigned to take care of Luke tonight. I set down Luke in the crib and she started what would be the first of a barrage of vitals and glucose checks that would occur around the clock.

A resident swung by our room. She basically had no info except that overnight we’d keep him on 10% dextrose and monitor his blood sugar every four hours. A metabolic specialist was overseeing our case and would contact us a some point tomorrow.

After we got settled in I laid down on the couch the nurse had put a sheet and pillow on. It was now around 2AM and it was the first time since 5PM that I’d really had a chance to take a breath. In 9 hours my entire life had changed. Just bringing our first kid home from the hospital we felt like we were on top of a mountain. Now I felt like we had been thrown off a mountain. I felt helpless laying there. I had no answers, no plan, no nothing. I tried to just focus on taking care of Luke and getting through the night.

Saturday – 7AM

I’m not sure you can really say I woke up the next morning. Between nurse checks, feedings, diaper changes, and processing what was going on I’m not sure I slept more than an hour or two. When I did decide to get up I was dismayed to find I was in the same reality I had gone to sleep in. It sounds cliche but it really did feel like a bad dream.

At this point the information we had about MCADD was almost all from the internet. The one doctor I had talked to so far didn’t know much about it and was just repeating a treatment plan she had gotten from the metabolic specialist overseeing our case. I’d made repeated requests to the staff to schedule a time to speak with the specialist but hadn’t heard anything yet.

A nurse that dropped by had mentioned while Kristin and I weren’t able to both be at the hospital, we could swap out as many times a day as we wanted. I called Kristin right away and asked if she’d like to come see him. I’d been sleeping on hospital couches since Monday night and could really use a few hours at home to shower and try and catch some sleep. She eagerly agreed and said she’d be there in two hours.

We swapped out and I was barely on the freeway and the nurse called me. The metabolic specialist was driving in to meet with us and would be there in 15 to 30 minutes. The doctor wanted us both there and forced security to make an exception and let us both speak with her in person.

Dr. Sarafoglou walked into the room and spoke with a confidence we had yet to hear out of anyone in any hospital yet. She said she made a trip to the hospital today specifically to meet with us because she wanted to reassure us. She explained, at a high level, MCADD is an incurable genetic metabolic disorder where the body has an inability to break down a certain type of fat into ketones. Without those ketones the body consumes glucose for energy instead, this can cause the persons blood sugar to drop continually until they become hypoglycemic. Hypoglycemia can cause seizures, loss of unconscious, brain damage, and eventually death if untreated. Fortunately, the fix for this is fairly simple. You just need to eat. For newborns that means eating every three hours. Once you hit three or four years old you can go 12 hours without eating and that usually stays your limit for life.

This disorder is extremely manageable she said. If you had to pick a metabolic disorder to have, MCADD is the one. Luke will have a normal life. He’ll play sports. He’ll run. He’ll play with other kids. He’ll do everything a normal kid will. Being parents of kid with MCADD will require two things of you. First, your threshold for calling the doctors office will need to be much lower. For example, being sick increases the bodies energy use and often makes people lose their appetite, that combination is bad news for people with MCADD. We would want you to call the metabolic on-call doctor and track his intake and temperature carefully. If necessary, you may need to come into the hospital to receive IV dextrose. Secondly, you’ll have to ensure he is regularly fed and doesn’t fast for any period of time greater than three hours until he gets a few months older.

She laid out a plan for discharge. This evening we would stop the IV dextrose that Luke was on. This would start a test where we would feed Luke every three hours while checking his blood sugar every four hours. If his blood sugar stayed above 70 throughout the night, the test would be considered passed. If he passed the test showing he could maintain his blood sugar on his own we would be discharged the next day.

We spent another half hour asking her questions. Things like how does this compare in terms of manageability to something like diabetes (MCADD is much easier to manage). One of the things that became clear at this moment was what different places Kristin and I were at in terms of processing this. As the doctor left, Kristin burst into tears but I was feeling much more optimistic. I remember looking over at Luke and thinking, we can do this.

As Kristin and I talked it became clear the doctor speaking with us really extinguished the hope she was holding on to that this was all a mistake and he actually didn’t have this. She was just now accepting our new reality. I found myself going through that the previous night. I had accepted the diagnosis and was just trying to deal with the prognosis. From what the doctor said our outlook looked fairly positive. Not being able to go through this together due to COVID had put us in different places, adding yet another complexity to everything that was going on.

I headed home to get some rest but couldn’t settle down. Oddly, I ended up mowing the lawn. Somehow a mundane task like that took the edge off. I did a few other things around the house, laid down to rest for a bit, showered, and then headed back to the hospital.

Saturday – 8PM

I pulled into the underground garage at the hospital and called Kristin. I was going to take the night shift with Luke again. She appeared from the elevator bank ten minutes later. We hugged, talked briefly and then parted ways with a quick kiss, not wanting to make the nurse watching Luke wait too long.

I walked into the room and was greeted by the nurse rocking Luke in her arms. The staff had been pretty damn amazing on this floor, they took care of us like family. I fed him, changed him, put him down, and settled in to my makeshift bed. I was optimistic, after hearing what the doctor said, we’d be out of here by the tomorrow. We had a plan and a baby with a manageable condition, even if it is rare and incurable. I spent the night waking up every two or three hours to feed and change him.

Sunday – 5AM

“Matt?”

I jumped awake. The charge nurse Alex was standing over me with her hand on my shoulder. I abruptly sat up, startling her.

“Sorry! I just wanted to let you know Luke’s blood sugar just tested at 50.”

“Shit”, I said out loud. She told me they had paged the on-call doctor on the floor and they’d ordered his IV dextrose restarted. Basically, we had just gone back to square one and we weren’t going home tomorrow. I immediately felt defeated, the semblance of control I’d felt earlier after meeting with the doctor was gone. The uncertainty came rushing back. If he can’t manage is own blood sugar how can he leave the hospital?

My mind ticked, as I watched the nurse feed him 12 milliliters of formula. A recheck 45 minutes later showed his blood sugar at 93. The nurse called the doctor and I could hear her audible surprise over the phone. This only added to my confusion. Are swings that big in blood sugar even possible? I looked at the clock and it was almost six. I sent Kristin a message, not really say what else other than then he’d tested at 50 and was back on the IV.

Sunday- 11AM

Kristin was heading to the hospital for another swap out with me. We still didn’t have a new plan from the doctors. He was still on the IV dextrose. Same routine as before, she parked in what was becoming our usual parking spot in the underground hospital garage. I grabbed a nurse to watch Luke while I ran down.

Being at home allowed from some decompression but after a few hours you start to feel a ‘cabin fever’ type anxiety. Wondering what’s going on at the hospital. Wondering how my kid doing. Wondering that the plan was going to be.

Kristin called me sometime later and said the resident doctor had stopped by. The new plan was to start him on a nutritional supplement called L-carnitine three times a day. The metabolic team didn’t have the lab results back yet but suspected lack of this supplement in Luke’s body may have caused the big dip we saw last night. They were starting the supplement immediately and the plan was to repeat last nights test again, if he passed we’d be going home tomorrow.

I tried to get some sleep before I’d head back to the hospital for the night shift with Luke.

Monday – 1AM

Back at the hospital I was stirred awake by a commotion near Luke’s crib. Two nurses were hovering over him. After several minutes they were still there and I had seen the blood sugar meter but I almost didn’t want to ask, fearful of the answer.

“What was is blood sugar”, I blurted out.

“67”, our nurse Karina said.

Fuck fuck fuck I thought. Again we are back at square one, are we ever going to get out of this place. The nurse must have sensed my frustration.

“We just talked to the resident, they told us not to intervene and we are going to retest it shortly.”

“Do they think it could be a fluke?”, I said.

“They think it’s possible.”

I waited anxiously while they pricked his heel for the second test. The blood slowly traveled up the test strip to the machine. A countdown from 5 started. At zero the machine flashed blank and then read 83. The nurse and I looked up at each other. I could tell she wanted to assuage me but didn’t want to tell me something she didn’t know for sure. She called the resident. They were going to check it again in an hour and if it was still above 70 they weren’t going to consider the 67 reading an error. They hadn’t done anything to intervene and it had gone up on it’s own which doesn’t make any sense unless the reading was an error.

Monday – 8AM

Kristin had just called telling me she was pulling in the ramp. It sounded like we were going to get out of here today but we still planned on doing a parent swap so I could go home and freshen up just in case we had to stay another night.

Mid-afternoon came and Kristin called me to tell me we were going home! We had one final call with the metabolic doctor managing our case and got all our questions about managing a baby with MCADD at home. It really was fairly simple and boiled down to, feed him every three hours and call us if he gets sick or stops eating.

My mood was over the top driving back to the hospital. Kristin came down since she still couldn’t carry anything having given birth so recently. I packed everything up and got us the hell out of there.

Getting everyone in the car and all loaded up it felt good, to be a family again together.

Onward

It’s Thursday at 9PM and we are doing a lot better. I found a few blogs written by parents who have kids with MCADD. I decided to email one of them that hadn’t posted in several years to see if they would give us an update on how their kid was doing. Hearing parents talk about their older kid with MCADD felt like looking into our future. They sent me the below reply:

Congratulations on the birth of your son!  Getting an MCADD diagnosis is so scary and unexpected.  I’m glad that you found my blog and I hope that it offers you some optimism for the future.  The first year is a lot. The feeding schedule is pretty demanding and you’ll find yourself quite sleep deprived, but know that it definitely gets easier as he grows.  The feeding schedule will stretch out every couple months and will disappear completely by the time he’s a toddler. You’ll go from setting 4 alarms a night to setting none at all before you know it.    

Our son is now 10 years old.  He is healthy, smart, creative, funny, an amazing athlete and also compassionate beyond his years.  He lives a very normal life and MCADD has never held him back from anything he wanted to do.  In fact, the vast majority of people who know him have no idea that there’s anything different about him. Other than eating a hearty snack at bedtime (usually a yogurt and some granola) and taking a levocarnitine supplement, he eats, snacks and plays like most ordinary kids and doesn’t have any dietary or activity restrictions whatsoever. He played on a basketball team for the winter and there was one game where his team was shorthanded so he happily played the entire game. He sipped on Gatorade instead of water during the pauses in play and he had whatever snack the team parents passed out afterwards. When we got home, he went out and rode bikes with his friends for the rest of the afternoon until we called him in for dinner.

The only thing that’s a little different for our family is that we need to watch him really closely when he is sick with any illness that causes vomiting, diarrhea or loss of appetite.  If he isn’t able to eat 2/3 of his normal intake, that tends to trigger a trip to the hospital where our metabolic doctor calls ahead to let them know we’re coming, he gets an immediate IV of 10% dextrose when he arrives and we hang out there watching movies until he can eat enough on his own again (usually overnight, but sometimes up to a couple days). Hospitalizations happen VERY infrequently as he has gotten older – maybe once every couple years and usually when there is a particularly nasty germ going around at school. Our older son usually weathers that same virus on the couch with a puke bucket and some pedialyte, but our MCADD kid needs the IV as a safety net to make sure he doesn’t get into anything dangerous like a metabolic crisis. MCADD is all about preventing a metabolic crisis and you do that by avoiding fasting.

Please don’t be heartbroken about the diagnosis. It takes some getting used to, but see if you can find a way to think about it less as a “disease/disorder/sickness” and more as “information” about how your son’s body works a little bit differently.  That information is very powerful and has already saved his life. And, it will continue to save his life because you know how to keep him safe.  The best part is that keeping him safe doesn’t require anything complicated. You really just need to make sure he’s eating regularly. MCADD doesn’t have to limit his life or yours in any way.

Congratulations again!  Feel free to reach out anytime you have questions about “real life” with MCADD.

I probably read the email ten times. It really assured Kristin and I that Luke would lead a normal life with the exception of some extra snacks and Gatorade. We only have three nights under our belt but it already feels more manageable than we expected.

I know this has been a marathon of a post but it was much needed to get this all out. We are optimistic going forward and excited to watch little Luke grow!

-Matt