Genetics Results and AW
cantalopes24
member
The genetics counselor called this week to let us know they had the results of Lo's blood and urine tests. She still has a build up methymalonic acid in her urine but not enough of whatever they were looking for in her blood to diagnose her. She explained that it could be because a lot of times it is something that flares up when the body is in distress (which could be why she was so sick in December because her weight was so extreme and she had a URI) so they might have to wait until she gets sick again to diagnose her, and because we are supplementing/fortifying with the formula they would use as a treatment for the issue. The doctor had told us this at the appointment so I was kind of expecting it but it is still super frustrating because I just want to know for sure what the problem is. They are mailing us and her other doctors copies of the results and sending a new requisition form. They want to repeat all the labwork in 6 weeks to try to get a pattern. They are also sending us forms and documents that we have to keep and if (the genetics counselor said when) she gets sick again we have to give them to the doctor/hospital so they will requisiton certain tests and send them out to be processed and sent back to the geneticist.
This is her at her favorite spot, the pool! She's still not quite 15 pounds but her watermelon head is in the 80%.
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Re: Genetics Results and AW
Aww she looks great! And so happy! It must be very frustrating to keep having to go back and forth to the doctors, I will be hoping that they can diagnose her soon to ease your mind :-)
That picture is so adorable!
I'm sorry you don't have a solid answer, yet, but I'm glad they have a plan for future testing. Thinking of your family.
Burned by the Bear
She is beautiful!
Married 08/18/07
BFP 02/15/11 EDD 10/27/11 Born at 35w3d on 09/25/11
BFP 10/13/12 EDD 06/25/13 Born at 37w0d on 06/04/13
BFP 12/11/15 EDD 08/23/16 Early miscarriage
BFP 02/02/16 EDD 10/16/16
How frustrating...
Is that a Carter's bathing suit? We have that one.
LMAO! That and her blue eyes are the only things she gets from me.
awe she's adorable!!!!
I can only imagine how frustrating it is waiting for answers/results. We had genetic testing done on both DH and I after Wyatt and it was the worst waiting! Hope you get answers soon!
ETA: wrong thread! Oops
BFP #1 - 11/16/10 CP 12/1/10
Our team green turned into team pink!
BFP #2 17dpo - 47, 19dpo - 114 Chart
Gosh it?s been sooo long since I saw a piccy of your LO - and wow!!! how far she has come :-)
Ive thought about her often and wished you all well.
So pleased to see her looking this good xx
BFP Chart
OCT 2011 Moms BlogLo is so, so cute!! She looks very happy playing in that pool.
Sorry that the "results" were so frustrating. Our geneticst said that Abby has "features" of a genetic syndrome, but never said YES! she has it. Even though it is written in all her medical records that she does have the syndrome and it is obvious that she does.
Since you didn't get an official diagnosis, does that mean that EI services are still on hold? If so, I wonder if the geneticst would be willing to give a "preliminary" diagnosis, so that you could get set up with EI services (assuming you still want/need EI services).
While I don't ever want Lo to get sick, if she does, I hope the results of the testing come back and give you a definitive on a diagnosis.
The main point is, though, that Lo looks healthy and happy!!