Thursday, February 26, 2009

Happy Birthday Marley!

Our little girl is 1 years old today!

I spent a lot of time today reflecting on the anniversary of her birth. I admit that I don't have many fond memories of that day. While labor and birthing were relatively easy, once she came out, the reality of the situation was pushed into my face. I am ashamed to admit that her birth brought a lot of sadness, months of grief and anger, and to this day I still struggle with my loss of a "perfect baby".

But Marley is here and she has made me a much stronger person than I ever imagined. I truly am the strongest person I know. Hands down. And I am so proud of all that Marley has accomplished in this year- she is absolutely nothing like that screaming newborn that tested my patience and sanity. I mean, she still tests my patience; you have to be patient when you have a child that is developmentally delayed. But I really look forward to seeing all that she can and will learn in this coming year.

Saturday is her birthday party. Marley will have cake for the first time, and I will pour myself a very stiff drink and raise that glass to celebrate with my friends all that is Marley.

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.