Newborn Screenings

We had a pediatrician we loved in Albuquerque. He was personable, kind, and affirmative. We felt comfortable talking with him about our concerns, and we respected his opinions. When we moved, I decided to ask around, and most people I know go to a practice near our house. It takes our insurance, and it’s open long hours. I didn’t particularly like any of the doctors, but I figured, well, we’re only going to be going there a few times, so no big deal. And sure enough, mostly no big deal, because our kids aren’t sick much and they only need routine physicals and vaccinations. I liked the doctor we chose well enough. Gilbert, at his two year visit, refused to be a trained monkey. She asked if he could jump, and he just looked at her. When she left the room, he hopped from one side of the room to the other! I did not like some of the other doctors. One in particular created a very bad experience during Seamus’s four year old visit. I also do not like how you make an appointment to see one doctor, and she may or may not be who you see when you get there. (A friend tells me that they just insist on seeing their doctor, and it usually works out.)

Porter, who was supposed to be born out of the hospital, ended up seeing a doctor from this practice in the hospital. Luckily she’s one of the ones everyone likes. I liked her immediately. She explained that even though he doesn’t have hip clicks, they still will recommend an ultrasound on his hips at 4-6 weeks to check for hip dysplasia because he was breech. Fine. The ways she talked, as if it were important but not scarey appealed to me. So on Friday after he was born, he went in for his newborn checkup. Patrick had to take him because I couldn’t drive, and somebody had to stay home while the older boys napped. The doctor he saw was appalling. Granted, Porter spit up all over her because I had “topped him off” before they left hoping he wouldn’t get hungry and cry. Patrick also admitted that we weren’t bean counting wet diapers. She seemed convinced that we were awful parents.

A few days later, when Patrick was out of town, she called to say that his newborn screening was “inconclusive.” I asked what that meant, and she said that the sample was contaminated and couldn’t be read. Well, to me, that’s better than inconclusive. A friend was over, and I started worriedly thumbing through the booklet. She told me to put it down and not look at it. Good advice. I took him in to redo the screening. It was traumatic, but I’ve done it before with the others and I can handle it. (Side note: I’ve got Porter next to me doing diaper free time, and he could not be happier! Cooing, smiling, wiggling his bottom.)

On our vacation, the doctor called and said that his reading for one of the metabolic diseases they screen for was out of range. Well that’s frightening, because those diseases are rare and just beyond comprehending their consequences. Screening is done because they are treatable, mostly with a special diet. She said she’d spoken to a specialist and that we needed to get to a Labcorp right away to get further testing. So we did. And I’m very upset with myself for rushing to that dark place and not just trusting my own instincts. Here’s why.

The disease she said he was out of range for was Maple Syrup Urine Disease. The baby’s urine smells like maple syrup. There are a lot of symptoms, none of which Porter had. I was also sure he’d been gaining weight. But the effects are terrible. Most babies who have it, without treatment, will die within a month of being born. It’s also absurdly rare. 1 in 185,000 people. Both Patrick and I would have to be carriers. It just didn’t add up. But there we were, at a Labcorp (our second, because the first didn’t have a pediatric needle), letting our baby get blood drawn off his veins (to be fair, the lab techs were some of the kindest people I’ve met in a medical scenario), for an amino acid plasma test. While we were there, we weighed him and at 3 weeks, he came in at a hulking 10.5 pounds. He’d gained 2 pounds, 3 ounces since birth. As I said, I was in a dark place imagining that the breastmilk I was convinced was the best for my baby was actually killing him. Mostly though, we stayed above that, just looking at him and saying, “There’s no way.” We couldn’t find information on how many false positives there were.

We thought we’d have results on Friday, which was one of the reasons we went so quickly to get the test done. When I called, they said results would be back on Tuesday. I called Wednesday, thinking no news is good news. The results were back, but the nurse couldn’t tell me what they were. The doctor finally called on Thursday to say that he conclusively does not have MSUD, but that some of his other proteins were out of range and that she’d called the specialist. I had already decided that there would be no more tests. Fortunately, my resolve wasn’t tested, because the specialist said that those proteins don’t really have ranges. I do wish that more places would tell you what the range is and where you are. Then you can see if you are actually a smidge out of range, or three standard deviations out of range. That makes a difference, it seems to me.

We’ve done a lot of talking with friends (after the fact; I couldn’t really talk to anyone while we were dealing with it) to try to decide if we should switch practices. The consensus seems to be, this practice is fine if you get the 2-3 docs who are good and avoid the 2-3 docs who aren’t. Not great odds, but it’s a huge hassle to switch, especially if everywhere around here is the same story (and based on informal surveys, it sounds like that’s the case). I’ve decided to keep looking, passively. Here’s what I want in a pediatrician: I want the oldest doctor in town. He or she will have seen a lot of babies and know when there are problems and when things are normal. I want a doctor who believes we are the best parents for our kids, and that ultimately we know them best. If these things don’t exist then we will not be comfortable talking about concerns we might have, and everyone suffers.

I think it’s a city v. small town thing. Here people worry and are quick to call in specialists, because there are specialists in a 10 mile radius. In a small, rural town, the doctor might be the only one in the office and have to rely on intuition to solve the problem. There might be some 1 in 185,000 who are missed, but there would not be so many false positives. I guess we would want to know, so we could “fix” him, but how much is too much?

 

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8 comments

  1. Poor Porter and Poor you guys. Sometimes doctors make things more difficult than they need to be. I spent a year being bounced around from doctor to doctor, test to test. I was told I had lyme disease, mononucleosis, bells palsy, etc, etc. I went for a second opinion and he said “you have none of those diseases!”. I said, “well, what do I have?”. He said “I don’t know.”. I said “Thanks for nothing!”. I’m still kickin’ though! With or without all the diseases they thought I had! Porter looks strapping to me! I say he’s a keeper!!! xxD

  2. Good grief! That sounds horrible. It’s hard to trust your instincts when it’s your health or a family member’s health on the line, but you are very intuitive. Remember that!

  3. I am so happy I found your post. We are currently dealing with the same situation with our baby. First newborn screening was a “bad sample” and 2nd had elevated leucine and valine levels. We are terrified while awaiting the results. I am just wondering if you have any idea what you babies numbers/results were? It is so hard to find reliable information but your post gives me hope!

    1. I hope you’ve gotten good news. I don’t recall his numbers (and I’m not sure they ever shared them with us, since we were on vacation and had to go to an out of network lab for the extra test). I think the specialist told our doctor that many of the individual proteins don’t have ranges to look for, but they looked at the whole picture. I don’t know if that helps, but my family is sending yours positive thoughts and hugs.

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