Metabolic Disorders

The twins were flagged in the California Newborn Screening Program as testing positive for VLCAD enzyme deficiency. This resulted in having to get their blood drawn (not heal prick, a full on blood draw) when they were only a week old. W were told that a few tests would need to be run at various facilities and that we probably would not hear back for 3-4 weeks.

As it turns out two samples should have been drawn and each should have gone to separate facilities. 4 weeks later we hear that the key sample for gene sequencing never made it to Cinncinatti Children's hospital. The was some goof in the paper work and Quest Diagnostics didn't do anything with the blank request form they were given. The form should have been prepared by the UCSF/Stanford Genetics team that requeted the test, or inquired about by the pediatrician's office that gave the forms to bring to the draw, or questioned by the lab when they received the blank form.

I'm not sure how much the parents of week-old newborns can be held accountable to make sure that these forms are completed in whatever wacky medical jargon that needs to be present, but as I'm experiencing, we should never trust anyone to manage the well-being of our children. In the end it falls on us, and I would argue specifically the fathers, to be aware of what the problems are and to be checking in with the various "professionals" along the way. I say it all the time: "the only thing I really learned in grad school is that no body really knows anything". I'm considered to be an expert in something and I surely don't know much about it! Why should I expect a higher level of expertise from someone else.

So now I've contacted the head of the genetics department personally. I go the name of the genetics counselor that works on cases like ours. I got to hear the results from the tests that were run straight from the people that work with these kinds of tests all the time. I requested new forms be set completed directly to me. I requested that in addition to the requesting doctor at UCSF, our pediatricians name and my name be added to the forms so that the testing facilities will be legally allowed to speak with each of us directly.

And I did all of this in relatively short order. You could ask me why this wasn't done in the first place or who's to blame, but in the end it doesn't matter. As a father it falls on me to pick up the pieces that someone else dropped and carry them to where ever they need to go in order that my children get whatever it is they need. I don't have time to figure out who's to blame. Even stopping to find out who's responsible, even if i wanted to get someone fired, would represent a learning opportunity for them.

If you are supposed to help me support my family and you fail, I'm not going to stop to pick you up and help you learn and grow. You lose. You have been left behind. And you probably won't hear about it.

Kel is planning on writing John Muir with some suggestions about how they can better handle patients who test positive for various conditions within the newborn screening program. I think that's a great idea. I will help her write it. After I know my boys are well and taken care of.