Even more good news

Pip Squeak failed the urine test for PA and MMA 3 times. She recently had a 4th test done and….

IT CAME BACK NEGATIVE!!

YAY!!!

Drum roll please…

And the results are in. The Pip Squeaks blood levels were slightly elevated, however, they are no where near the elevation level that babies who have MMA or PA are typically at. For instance, Pip Squeaks level was at 81 which is above the normal level of 50, however, babies who normally have it are at 350-400+. The doctors are going with a 80-90% that Pip Squeak has NEITHER!!!

Pip Squeak doesn’t exhibit the symptoms that the ones who typically have this do. She wakes us up when she has a wet or poopy diaper. She grunts when she tries to poop. She makes noise when she’s hungry. Lately, she’s been more awake than we’ve ever seen her and she’s even looking at us now. The doctors said that babies who have MMA or PA sleep ALL the time and make NO noise. They would sleep to death if the parents let them. Furthermore, babies who have this don’t eat and they LOSE weight. Pip Squeak weighed in at 6lbs 2 Oz today up from the 5 lbs 6oz from a couple of weeks ago.

This has probably been the best news we’ve received in a couple of weeks. It’s been sheer terror waiting for the results and not knowing one way or the other. We asked if there was a chance she was borderline and the doctors equated MMA and PA to diabetes, either you have it or you don’t there is no borderline.

Thank you all for your kind thoughts, well wishes and prayers. We have certainly been blessed by them.

(countdown to moving day is at 11 days!)

MMA and PA

(not mixed martial arts and the abbreviation for Pennsylvania)

What we know:

MMA=Methylmalonic Acidemia

PA=Propionic Acidemia

Both are rare Genetic Metabolic Disorders and can cause brain damage, mental retardation, physical handicaps, developmental delays, and a slew of other problems if left untreated. Both mean the person who has it has problems breaking down amino acids in protein and certain fats and they require an extremely low protein diet. Pip Squeak has failed the Newborn Screening test twice and the Urine test once which means she has an 80% chance of having PA. The one blood test we got back show normal levels of amino acids in her blood. They are testing her Urine again and we’re waiting for those results to come back.

What we don’t know:

Which one (or both) that Pip Squeak has. The remainder of the test results are still “Pending”.

What we think:

If it turns out that the Pip Squeak has one or both, or is a carrier for one or both, we are 99.999999% sure this is what caused The Miracle’s stroke and eventual death. Our doctors are waiting to see the results of the Pip Squeaks test and then will use a hair from the Miracle to test her DNA to see if she had it as well.

What it means:

We don’t know just yet.

Links:

http://www.pafoundation.com/

http://www.oaanews.org

http://www.oaanews.org/mma.htm

http://www.oaanews.org/pa.htm

We’ll let everybody know the results of the tests when they come in. We’ve been waiting for over a week now and its just killing me.