I called our Dr. yesterday because I noticed some lymph nodes in Ezzy's groin area that I had not felt before. I could even see them bulging under the skin (he is skinny). So they set us up for an appointment today. I wanted to make sure they had all his lab results from last week, so I asked the nurse to check. I then called the lab where he had them done to make sure they had been sent. Then I called the Dr's office back and left a message for the nurse that the lab had sent the results.. call me back if you still don't have them. No call.
So we go today. No weight gain in the last 1.5 weeks. The Dr. said she feels like his lymph nodes are within normal. She pulls out the blood test results and explains away all abnormal results by saying he was crying during the draw, or that he must have been fighting a virus (asymptomatic). She said she thinks his delays might just be because he has to wear a special helmet for his craniosynostosis. (Ezzy's surgeon disaggrees, but evidently the ped doesn't care) She wants us to meet with the PT from early intervention to get her opinion before we decide if we need to do anything else. She felt like metabolic and mito issues were ruled out based on the blood test results. I brought up that the lactate/pyruvate is not always accurate in showing mito issues, and she said "well, being a generalist, I am not able to keep up on the recent literature of rare disorders" So, I was in shock and the Dr. just walked out of the room and that was it.
So I got a copy of the blood work before I left and asked them to mail me a copy of his whole chart.
Then when I am almost home (1.5 hour away) I realize that we never went over the urinalysis! So I call from DH's work (I had to go there to pick up DS1) and ask the lab to fax me the results. I then had to go home. When I get home and look at the results it shows there were abnormally high levels of ketones and bilirubin in his urine! So I call the Dr. and find out that they never even had the urinalysis results!
Even though I was told they were successfully faxed on the 29th.
Anyway. So, I will personally fax the urinalysis to the ped in the morning so she can see them. I can't imagine she will say nothing is wrong with DS1 with ketones in his urine. If she does, she's a quack.
So here are the numbers of what was abnormal about his labs. Please give me your wisdom, wise mamas:Chem 12:
TCO2: Low 13 (normal 17-28)
Anion Gap (calc): High 18 (normal 5-15)
Creatinine: Low 0.4 (normal 0.8-1.3)
AST (GOT): High 42 (normal 0-37)Lactate&Pyruvate:
Pyruvic Acid: High 0.17 (normal 0.08-0.16)
Lactate: Normal 1.1 (normal 0.6-3.2)CBC
Platelet count: High 413 (normal 150-360)
Lymph: High 77 (normal 46-68)
The absolute lymph was within the normal range, but just barely 6.9 (normal 2.5-7.0)
Thyroid Stimulating Hormone was normal 2.66 (normal 0.6-6.5)
Ammonia was normal 54 (normal 18-72)
So anyway. I feel so stuck right now. I am not sure what to do. I know there is something wrong with my baby, and the more I read, the stronger I feel like it is some time of metabolic or mitochondrial issue that was exacerbated at the time of his surgery due to all the drugs that his little body could not handle. I get so pissed that my Dr. doesn't seem all that concerned. You can see my baby's ribs! His skin sags on his body and he is behind developmentally. I don't get what she wants to see? Seizures? Regression?
Please give me any insight you might have. Is it really possible that I am just driving myself crazy and this really is nothing?
Also, here are his growth charts:WeightHeight