Family Vacation- 2020 Style

Since several of our vacation plans earlier this year were ruined by the pandemic, we were looking forward to Carl having almost a full ten days off and spending some time just the four of us at the beach! Unfortunately, our family vacation can enter the history books the way the rest of 2020 will…on a scale of 1 to 5 stars, it will get a negative twenty.

To start things off, we were supposed to leave for the beach Monday morning, but were delayed a day because of Isaias upgrading from a tropical storm to a hurricane and then turning itself straight toward North and South Carolina. But no big deal, we got some extra things done around the house and Blaise had some extra therapies before we headed out.

We arrived on Tuesday, and Blaise had been a little out of sorts since Carl’s vacation started, but he had several teeth (even molars) coming in all at once and we assumed he was cranky because of the teething pain. After all, ibuprofen seemed to get him back to feeling like himself and we even got our Blaisey smiles during our first walk on the beach!

Unfortunately this afternoon stroll was about all we saw of the beach, because the rest of our time there it was pouring rain, thundering/lightning, or it was time for naps so we didn’t get to enjoy the sand and the waves as we had hoped. V did have an excellent time feeding ducks and turtles though, so I suppose there is some silver lining!

As the days went on, Blaise seemed to continue to get more cranky, exhausted, and not eating as well. It isn’t unusual for Blaise not to eat as well when we travel, and he still seemed to be bothered by teething. We even brought an otoscope to check his ears and make sure he wasn’t getting an infection secondary to his teething, but his ears continued to look perfectly healthy! He just wasn’t himself. He wanted held all of the time and we weren’t seeing those sweet smiles.

On Friday morning, Blaise slept in, was having staring spells and was crossing his eyes more than usual. He didn’t eat much, and even when he was being held, he was upset. We decided to pack up early and head home so he could be seen by the pediatrician the following morning. Of course, the day we had to head out was the nicest weather of the week…oh well.

Upon arriving home around 6:30 pm, I went to get Blaise out of his carseat and he was on FIRE. Not to mention he just didn’t look right at all. He was lethargic, kind of limp, and his color was off. Shortly after I left to the ER with him.

We found out he had a temperature of 104.2, a very high heart rate, and drew some labs. It is always interesting meeting new medical staff with Blaise because no one knows about PMM2-CDG, and I end up having to educate them a bit and provide input into his plan of care (like he has baseline liver abnormalities, let’s give him ibuprofen instead of Tylenol). It is also difficult because he looks typical and generally is pretty pleasant, so at one point there was discussion of just giving ibuprofen, waiting for his fever to go down a bit, and not drawing any labs (because they didn’t want to stick him, I think). Thank goodness we didn’t go with that plan- with a special shoutout to Nana and Dad for being the strongest advocates for Blaise from a distance. Because of COVID, I was the only one allowed to be with Blaise in the ED. But I was communicating with them regularly and their expertise helped make certain that Blaise got what he needed that day.

Brief soapbox alert (skip to the next paragraph if you don’t care about my soapbox 🙂) : I cannot emphasize enough to any parents, especially those whose children have a rare disease, to SPEAK UP if you don’t agree with something that the medical team is doing. It can be awkward to do so because they are the professionals and you don’t want to step on their toes- but YOU know what your child is like on a daily basis and YOU know when something isn’t right. Especially for these zebra babies, most medical professionals aren’t well versed in the disease state and you are going to be the educator. Your child’s medical emergency is not the time to lose your voice. I think sometimes medical professionals are jaded by parents who severely overreact- like their child coughs so they must have cancer (yes, these people do exist). But don’t let someone talk you into something you know isn’t right. For example- not drawing labs on Blaise that day and just going home could have had a really devastating outcome.

Now that I’m off of the soapbox- back to the story. Labs came back and his liver enzymes had doubled and tripled from his baseline. We gave a fluid bolus and antibiotics, and prepared to get an ambulance to take him to UNC. This whole process took several hours, but that is the short version.

We arrived to UNC by ambulance just after midnight on Saturday morning, and were directly admitted. We gave Blaise some more ibuprofen, and his temperature finally broke 100. We obtained another set of labs and a respiratory panel, and started maintenance fluids. COVID test came back negative (for anyone wondering :)) as did the rest of the respiratory illnesses. However, his liver enzymes that were already elevated increased significantly and had since quadrupled again. This prompted more labs, consults, and an abdominal ultrasound to see what his liver looked like.

As I mentioned earlier, Blaise was having some staring spells earlier on Friday and we were worried about seizures. So he was ordered to have an EEG, and had a lovely hat overnight going into Sunday morning.

I won’t go over every last lab value and consult that Blaise had, but long story short, Blaise got better every day. His liver looked good and healthy on ultrasound, his enzymes started decreasing, and the EEG showed no seizure activity. Blaise started playing, and eating more by Monday morning and we were able to leave later that day. We later learned that Blaise tested positive for a pretty common virus that most people fight off without any issue, but it sent Blaise’s immune system into a tailspin.

There are so many people to thank who helped us during this very scary and difficult time. I appreciate Blaise’s geneticist answering my texts and taking time away from her vacation to talk with me and Blaise’s medical team and helping them with the plan. I appreciate my local family being able to help make sure V was distracted and taken care of while I was at the hospital and Dad had to work. But most importantly, I cannot thank everyone (you know who you are) who prayed tirelessly for our little man. I know those prayers were heard and that is why Blaise is where he is today. In fact, Blaise came home and in true Blaise fashion, started doing new tricks the same day.

We have been living in this magical land thus far with Blaise in that we haven’t experienced a significant event like this. I know other families in the CDG community unfortunately deal with these on a more regular basis. But now that he has, we have learned from it and have made some changes for the future. We added additional “allergies” to his list (because of liver abnormalities) and got some items to put in a “go bag” for unexpected hospital stays. We also will be creating an “emergency plan” that we can just give to any provider that needs to care for him. I highly encourage all parents in a similar situation to do the same. It will cut out a lot of the questions when those who are unfamiliar with your child are trying to come up with a plan. One thing I know for certain as it relates to this event, is that hindsight is 20/20 (pun intended?…. you decide).