Saturday, February 14, 2009

so what do we know?

On Friday we had our much anticipated appointment with Dr. Merritt, a biochemical geneticist. If you've got a metabolic syndrome- this is the guy to see. First we met with a fellow who gave me a very in depth interview in all things Marley. She then conferred with Dr. Merritt who then came in to discuss his thoughts and make a plan. 

I asked him if he truly thought Marley has DOOR. I mean, without knowing which gene was responsible, could we really be certain of her initial diagnosis? And, is the cause of her condition really the result of Jason and I being carriers of the same mutated gene? Dr. Merritt could not confirm that Marley has DOOR and therefore wants to approach the situation with a "fresh look"; take all the information we now know about Marley (that we didn't know when she was 6 weeks old and first diagnosed) and try to come up with a more accurate diagnosis, if it exists. He noted that her original urinalysis revealed elevated levels of a few metabolites. He would like to repeat that urinalysis to compare the two. He would also like to repeat the MRI to see if there are any changes to her myelination.

The best case scenario would be to discover that she doesn't have a metabolic syndrome because then we could have hope that her condition won't deteriorate as she gets older. For those of you who don't know much about metabolic syndromes, they are absolutely awful. They are almost always progressive in nature. Most babies with metabolic syndromes either die in childhood or grow up to be profoundly deaf, blind and retarded. It just all around sucks.

So if you're the praying type, or if you need a reason to take it up, could you please say a few kind words for Marley. Something like, "Dear God, Gaia, Allah, Lord, Baby Jesus, etc. Could you please let Marley not have a metabolic syndrome?" That's all. Pretty simple.

So the next step is just to wait to hear from the geneticists. Well, I do need to collect the urine sample which is a total pain. If you've ever had to "bag" a baby girl you know what I mean.

Next up: Orthopedics.


Kelly, Louis, and Ruby said...

I'll be praying for you and your beautiful daughter... Kelly & Ruby (from the nest)

i said...

Hoping it's not metabolic! (sd_lawmama from MC)

Jen said...

I will keep you in my thoughts!

Isaac's Mom said...

I'll definitely keep Marley in my prayers! We had to do a little bag that stuck out of the side of Isaac's diaper when they were testing him for different metabolic stuff, and it was such a weird process!! Here's hoping its not metabolic!!!!!