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.oaanews.org/mma.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.
