We received more test results yesterday. Sigh. Dr. OldNeuro called out of the blue to say that the erythrocyte protoporphyrin that he ran a month ago came back high. He said that the top of the normal range is 70 and her levels were at 107. This either means she has lead poisoning, or extremely low iron levels. He also said her lactate levels were slightly elevated. He wants us to go in Monday for more specific tests, and a test to rule out Rett Syndrome.
I called the pediatrician to ask her about these things. She said that they got these results a few weeks ago and she called to discuss it with him and he said "Oh, Dr. H, you worry too much." and blew her off. She didn't know why he had run the test in the first place, so she didn't know what the follow up needed to be. She called and discussed it with Dr. NewNeuro and he didn't know how to follow up either because he didn't know the reason for the test. So Dr. H is going to talk to Dr. NewNeuro over the weekend and determine the best course of action; and she's going to write Dr. OldNeuro a nice letter thanking him for his time and letting him know he's off the case. She said either way it won't hurt to have her lead/iron levels checked.
So we got more news that means nothing to us...everything is nonspecific.
We now have:
An abnormal EEG
An abnormal CT, that was later decided to be within normal range
An abnormal MRI
Abnormal erythrocyte protoporphyrin blood test
Slightly elevated blood lactate levels
Put it all together and what do you have? Nothing useful, evidently.
We seem to be stuck in an endless cycle of testing. I thought KayTar would have a break from the needle poking next week, but it doesn't seem to be the case. I wish we could get one clear cut result. Every time we get a piece of information, it just makes a more confusing mess. It adds a possibility, instead of narrowing things down. I hope we get somewhere with this next round of testing.
And I'd just want to chew Dr. OldNeuro out for holding back on the results.
I just cannot even imagine how frustrating all of this is. I feel like the medical establishment is completely letting you down.
Sending hugs ....
Poor you. It's just an up and down rollercoaster, isn't it?
Hmmm... when G was younger her iron levels were tested - apparently low iron levels can cause developmental delay and are surprisingly common - so I'd say it is definitely worth following up (funny that they don't do all the tests straight off - poor little Kaytar having all those needles).
I hope you get a clearer idea of what is going on soon...
ACK! So frustrating!! I'm so sorry you're being sent down yet another path. My best thoughts are with you and your family while you navigate the crud.
I completely understand your frustrations. We have two kids that have run the gamut with genetic and metabolic testing as well as all of Austin's neuro testing.
Austin- abnormal EEG and MRI, genetic mutation on TSC2 with unknown consequences. Genetics doc thinks it's nothing, not a known disease causing mutation. Neuro, developmental ped and I all think it means SOMETHING aa the only drug that stoprs his seizures is a TS drug. (TS is tuberous sclerosis)
Connor- abnormal lactate and pyruvate tests (told it means nothing!)..still awaiting very long chain fatty acid results. Can't convince genetics to run the TSC2 profile on him even though hubby and Austin have the mutation.
Good luck to KayTar on all her new tests.
Hang in there, honey. At least it sounds as though you now have 2 good docs on the case, and that they won't flag in the face of all this conflicting info. Not that that makes it all any less harrowing for you.
Well, that's frustrating. But you are starting to get answers on a small scale, like pieces of a puzzle.
You just need puzzel master to put it all together.
Oh my goodness. I thought that things were coming together and you were about to get a diagnosis. I am so sorry. I have an inkling of the stress you are going through!!
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