I was surprised to receive a call from Josie's pediatric neurologist earlier today. She wanted to discuss the results of Josie's urinalysis that was sent to the lab 6 weeks ago. Josie's glycine level came back slightly raised- which could be an indication of a metabolic disorder. She wanted to know how Josie was doing, if I had any new concerns since our last appointment, and specific things like if Josie was talking, if she seemed to have low muscle tone or if she had been hospitalized for any illnesses or dehydration recently.
The specific metabolic disorder she is concerned about is called "non-ketotic hyperglycinaemia". It's pretty rare and usually has other symptoms besides seizures (like low muscle tone, developmental delays etc.) so, as of now, I am not too concerned that Josie has it. The doctor said the abnormal results could possibly be from something she ate that day (including her formula). Still, she said we absolutely must follow up on this and do further testing just to be sure. (If it is this disorder, it's pretty serious and without a very good prognosis.)
Unfortunately, the next test we need is a blood test (to check plasma amino acids) which has been a very difficult thing to do with Josie. She has been stuck 6 times, already, with no success. Our plan was to wait until she went back to the neurologist in April before we decided whether to try labs again. However, with this new finding, we will now have to try again sooner. I will likely take her tomorrow.
This is where I could really use your prayers! Please pray for Josie and whomever will be making the attempt to draw her labs. Please pray that we are able to get enough blood, without too much trauma for Josie, to test for this disorder.
Then, hopefully, this will be just one more thing that we can cross off the "Josie Does Not Have" list!
Thank you everyone for your support.
Non-ketotic hyperglycinaemia seems rare enough that I had trouble even finding anything about it on the internet. Here are the two sites I was able to find if you want to read more about it.
Non-ketotic hyperglycinaemia
What is glycine encephalopathy?
Also, I added a new label on the sidebar of this blog titled "Josie's Medical Updates". If you click there, all the posts with information and appointments we've had thus far will show up- along with anything new I post.
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3 comments:
Oh Paige. I am so sorry to hear such concerning news. I am hoping since there don't seem to be any other indicators that it is totally NOTHING.
I am putting PRAY FOR JOSIE at the top of my task list for tomorrow.
Hugs and prayers, friend.
We will be praying for Josie and sending all our positive energy your way! It doesn't look like Josie has any other symptoms, so we'll keep hoping for a great outcome and one more thing marked off the list!
A good thing is the amino acid tests come back within a day so you should definitely know something fairly quick. I'm pretty sure those are some of the same ones that they tested Noah for in the hospital. They did a series of tests on him two days in a row because his were slightly elevated one day and then normal the next day. They ordered them to run it again since it was slightly high. Good luck, I'll be reading to keep updated! I'll keep you in my prayers...lord knows we've had several said for us lately with Noah and his surgery and everything.
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