Managing this nightmare

I am kind of pissed off this morning.  I stopped my internet search on metabolic disorders after the meeting with the geneticists last week.  Seemed like I had learned all there was to learn that afternoon (not much).  Then, this morning, I did a search on the disorder Maxie was found to have a single mutation for.  I found a link to the most basic website about newborn screening:  Here is what the website had to say about genetic testing for the disorder in question:

"Genetic testing for this deficiency can be done on a blood sample.  Genetic testing, also called DNA testing, looks for changes in the pair of genes that causes this disorder.  In some children, both gene changes can be found.  However, in other children, neither or only one of the two gene changes can be found, even though we know that they are present." other words - NOT SO UNUSUAL THAT THEY WOULDN'T HAVE FOUND THE SECOND MUTATION!  Not finding a second mutation is not an indication that Max didn't have the disorder!  Not so completely confounding and hard to explain at all!  Meaning - Max MIGHT have had this disorder and perhaps in a "not so unusual" presentation.  Meaning - Ted and I MIGHT both be carriers even though they didn't find my hidden mutation.  Meaning - Maybe Baby M HAS a 25% chance of inheriting this thing after all.

I don't think I am overreacting here.  I think someone needs to consult with a metabolic disease specialist and I am annoyed that once again, it falls into the hands of the "Project Manager" (me) and that this most basic piece of information wasn't found by the people I paid $6500 to for information about what the hell happened to my baby!


Bianca said...

I am sorry you are not running into more thorough, proactive experts, it is yet another injustice in a chain of devastating, unfair events. Most of all I am heartbroken and so sorry always that Maxie is not in your arms and that you are scared for baby M. I will continue to pray that he lives a very long, happy and healthy life. I pray too that you see glimpses of your Maxie in his brother.

Jill said...

What fatty oxidation defect do they think he had? Have you checked out

Susan Ireland said...

I'm sorry - the last thing you need. Can you self-refer to a metabolic disease specialist? x

Becca said...

I am pissed off on your behalf. Wtf is wrong with people?! I have grown so disenchanted with the medical community in general - it seems like compassionate, thorough people are a rarity and you have to work REALLY hard to find them in this field. And for some reason it seems the worst when dealing with children or anyone who can't speak for themselves. You'd think when children's lives were at stake people would be different though!

We have dealt with so much doctor drama over the years and it took me a while to accept that I would always have to be the "project manager" as you put it. do you have anyone you know in the medical field (like a friend I mean) who can help you navigate? Sometimes all you need are the right buzzwords and people hop to.

Good luck with this. Sorry you are having to deal with it.