Wednesday, October 22, 2008

After 12 Days of Formula Feeding

Nora does not have galactosemia!!! Yay! Today we are back on breastmilk and off the stinky soy formula.

Back up two Fridays ago, October 10th, we received a call from our pediatrician telling us that the NJ Department of Health and Senior Services's newborn screening for Nora showed her as "presumptive positive" for galactosemia. We were told that the numbers were a bit "funny" because her galactose enzyme level was too low (they only screen for the GALT enzyme, there are actually two other enzymes necessary for galactose metabolism), but her accumulated level of galactose wasn't elevated, which it really should have been if her body wasn't breaking it down. The whole problem with galactosemics is that the unbroken down galactose accumulates and eventually poisons the body. So anyway, the pediatrician referred us to St. Peter's Department of Genetic Diseases for testing on the following Monday.

On that Monday, they take a blood and urine sample, tell us that the results should come in a week or less, and also told us her GALT level was 2.4 according to the state screening, where less than 3.5 was considered positive for galactosemia.

After a lot of bottles and simultaneous pumping (to keep up the breastmilk supply) Carrie called St Peters on Thursday to see if they could do anything to rush the test. They claimed they were going to see, but said it was pretty much in the lab's hands at this time.

So this past Monday comes and we get nothing from St. Peter's, Carrie called and left a message. We didn't get a call back from them.

Tuesday we got a call. The person at St. Peter's called the lab and they ran the wrong test. They needed us to bring Nora back in to take more blood! Their earliest appointment was Thursday. Right. That wasn't going to happen. I was away on a work retreat in Princeton and Carrie was at home with Nora. She directly told them: I'm coming today for you to take the blood and you are going to give me the results tomorrow.

Well, after some back and forth between the staff member and her supervisor, they managed to find time to take the blood yesterday and they overnighted the blood to the Mayo Clinic for the test. (Apparently the other lab that screwed up the first test has screwed things up before and actually had screwed another child's test up at the same time as well. As to why they continue to use that lab, I don't know. Maybe it's part of St. Peter's faith-based medical science.)

This morning the woman from St. Peter's confirmed that Mayo got the blood and would be running the test today. This afternoon, after calling them at 4:15pm, we were able to get them to analyze the results. Nora is fine! Her GALT level was 21! (18+ is considered completely normal.) Tomorrow we should get the genotyping results which will tell us if she's a carrier for one of the galactosemia variants, but that does not affect her body's ability to process galactose.

We're extremely happy. This is absolutely great news. A scare like this, even for a disorder that's fairly innocuous if treated, puts things into perspective. We cannot imagine what people have to go through when their children actually have a disorder that impacts their daily lives markedly more than what we experienced here. It's just insane.

So, in conclusion, we're extremely happy. We do have a few lingering questions:
  1. Why did the state screening show her levels so much lower than they actually are? Was the result simply wrong or has her enzyme production since gone up?
  2. Why did the pediatrician send us to the St. Peter's genetics department when they just took a blood and urine sample and sent it off for enzyme and sugar tests? They weren't going to do any genetic testing.
  3. Why do they continue to use a lab that screws things up? Why do they use a lab that takes over a week to make no progress when we've seen that, when sufficiently motivated, the results can be back in only a day.
  4. NJ Dept of Health and Senior Services, what exactly is your problem? I didn't mention this above, but yesterday we received a letter in the mail from them stating that our child tested positive for a genetic disease, included this completely useless flyer, and told us to see the pediatrician for a diagnostic test if we hadn't already. Classic galactosemics who are not treated are dead in two weeks from birth. I have to acknowledge that they did get their (erroneous) screening results to the pediatrician in less than a week, but this mailing to the parent is ridiculously unacceptable.
We're so happy that Nora is ok. And we're glad that this medical community exists to help us if things go wrong, but the level of incompetence we've experienced at all levels is just frustrating.


Laurel said...

Yeah! We are so happy that Nora is going to get some more of that sweet elixir nature made just for her! Wishing you some needed R&R after the roller coaster you have been on.

Laurel, Per and Isla

Anonymous said...

After all of the crap they dragged you guys through...I'm glad to hear Nora's healthy. All that stress...incompetent assholes.