Unbeknownst to us Hunters newborn screening acylcarntine profile came back slightly elevated but “likely nonspecific. Please send repeat screen” His repeat NBS came back normal. We were never told this until after our second hospital stay, I’m not sure what I would have done if I did know this then but it is important for parents to know NBS is important and don’t assume everything is fine if they don’t say anything about them.
When Hunter was 6 months old he came down with a cold one week after getting his shots from the pediatrician, he wasn’t acting like himself and had no interest in eating. We called his pediatrician and he advised us to just continue to try to get some fluids in him and let the cold run its course. The second day of this “cold” Hunter could barely keep his eyes open and couldn’t lift his head up for more than a second. Enough of waiting it out we rushed Hunter to the ER, after what felt like the longest wait of my life we were taken back to a bed. As soon as I laid him down the nurses eyes lit up, she realized something was wrong. Numerous tests were run and the only thing that came back abnormal was his liver enzymes were elevated. The ER we were at consulted with the University of Maryland and they decided he needed to be transferred there. University of Maryland ran more tests and all they could tell us was that his CK levels were elevated. They came back with the diagnosis (misdiagnosis) of Viral Myositis. I was relieved at the time, this was a one-time freak thing that would never happen again… or so they said.
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| Hunter, 12 months old & his sister, Alexis |
Then Hunter turned 1, went to the pediatrician- everything looked great! He was a happy 12 month old weighing in the 75% and 95% for height, Hunter got his recommended shots and we were on our way. Exactly one week later we woke him up and he went back to sleep, put him in his car seat and he went back to sleep, when I opened the door to get him out of the car he looked at me and I knew I had seen that look before. It was happening again, they told me it was a one-time thing and it was happening again! We called the pediatrician ASAP and he had us bring him in, within a couple minutes of the pediatrician seeing him he sent us to the ER. We got a room pretty quick, it was the same nurse as last time (she remembered us) and the work up started. His blood sugar was 39 (normal 80-100) and again his liver enzymes and CK were elevated. We were transferred back to the University of Maryland for more tests; they assured me they would find out why this was happening again. Multiple tests were ran (EEG, MRI, liver sonogram etc.) and aside from his MRI showing high lactate everything was normal. Lucky for us this time they consulted with a geneticist. The tests she chose to run were going to get us our answer. We spent 5 days in the hospital and Hunter was back to himself but the tests weren’t back yet, we were discharged on a Friday afternoon with the suspected diagnosis of “Fatty Acid Oxidation Disorder” which if your reading this you probably know that could still mean a million different things, it gave us enough answers to drive us crazy but not enough to be able to do anything. The following Wednesday we got the call from the geneticist, Hunter had LCHAD.
The next day we had our first appointment with the genetics team at University of Maryland and they were great, they explained everything and spent hours answering all my questions. Since Hunter’s diagnosis he’s been given a strict diet he needs to follow, MCT oil we need to work into his diet every day and instructions to add cornstarch to his night time bottle so he can sleep through the night. With lots of doctors following him closely Hunter is doing amazing, I am excited to watch him grow up and see what he decides to conquer in his future.
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