My notes...

Below are my thoughts and notes from the meetings. 

What the committee is like:

They are ridiculously, insanely smart people that are highly, highly, highly trained in genetics. Within the group of experts, I kept thinking of American Idol auditions (I know!). You know how in the beginning when the contestants start auditioning and you can so easily see the good singers from the bad ones? You think to yourself “man, there is a lot of talent…how will they ever get it down to the top 24 best ones?!” But then, when you get all the best in one room and they start competing, you start to see that among the best, there are clearly some that are spectacular, and some that are just merely good. Same applies in this room. Amongst the experts, as they would comment and ask questions of each other, you could so easily see the ones that are really sharp, and those that are just…missing something. The thing that I see them missing the most is making the leap between what is just science and what is real life living with illness. Some were so clued in on both their area of expertise, and the fallout of what the committee would propose and what is actually practical. Others were just into their science and the governmental processes around it. It was kind of frustrating to see, with my heart crying out for those that see this from my point of view as a parent.

They are really tough. The various presentations were interesting because someone would get up to the microphone to present an update on a project, or propose something new, and would talk about it with PowerPoint slides for 15-20 minutes. Then, for 45 minutes, the committee would just rip the idea apart, asking really tough questions. To get up there in front of them, you seriously had to know your stuff and have your act together. I almost felt bad in a few cases with how much they would ride some of the presenters. Wow…

They say no (or turn deaf ears) to a lot of things. One of the more heartbreaking things to witness was watching the group that came to represent the illness Adrenoleukodystrophy, or “ALD.” This is the illness featured in the movie “Lorenzo’s Oil.” I was shocked to learn that with as much publicity as that disease has gotten, and with how organized the parents are (there are multiple advocacy groups to support it) that it is not on the newborn screening panel. It was up for potential addition to the panel at the meeting. One of the advocacy groups came out en masse with lots of speakers, including kids and one of the doctors that pioneered most of the viable treatments with her husband before he passed away (I sat behind her, and I *think* she was one of the characters in the movie! I need to watch it again. I think her husband was in it for sure.) It was amazing to hear them all speak, especially the kids. They talked about what it was like to live with the illness, to watch their cousins and other relatives die from it (one girl lost her father to it) and how important it was to screen for it. 

Then, one of the doctors that was on the committee presented their report on making a case for whether or not to add it. He felt that they needed another year to collect more research before putting it forward, so he asked the committee to vote against it. It was heartbreaking watching the committee chair go around the room collecting votes, and to hear all but one of them vote against adding it to the panel. The ALD advocates were pretty disappointed. I think they thought they would speak, hear the vote, and then go out to lunch to celebrate, but no such luck. There were other things too, where someone would present, asking for support, and expected to get a yes. The committee would ask a million tough questions, and then shoot it down. Or not ask any questions, and move on, brushing it under the rug.

Some of the interesting things they are currently discussing or constantly doing:

• They put together recommendations to add new illnesses. I heard about three illnesses during the whole thing, and HOLY COW what goes into that is extensive. Years of work, hundreds of pages written, hundreds of pieces off feedback from experts to be culled through. Wow…
• They are considering and studying the effect of having states do two screenings. Once when a baby is just born, and again, when they are a week or two old. Nine states have it mandated to do this. Several other have it recommended. 
• They do what they can to standardize the collection of information. They have a program they are starting where they are collecting family history info when a woman is pregnant for example. They also put forward a matrix for how they review illnesses. That got a LOT of debate.
• They also review illnesses that have been on the screening panel to see how they are doing, and if there are areas for improvement.
• They are also beginning to talk about what it would be like if we screened for carriers of illnesses – as in, not wait until a sick baby is created. Find out that you are a carrier of something beforehand. Can you imagine? It is far-fetched that this would happen in the near future, but it is something they have their eyes on.

Don’t they get it?! (slaps forehead)

• One of the primary criteria for adding an illness to the core group of disorders that the states test for is that it HAS to have a viable treatment. They are looking for illnesses where they feel that they can have the greatest medical benefit, from screening to what happens afterward. What they don’t take into consideration is what it is like to have a child that is seriously ill, and no one is giving you any answers. You spend a lot of time doing invasive tests to find out what is wrong (in the field, they call this “diagnostic odyssey”) rather than being focused on making a child comfortable at least, and enjoy their last days (as much as is possible anyways) rather than being a science project.
• Something else I learned that I thought was kind of nuts is that we are light years ahead of what any other country is doing. We screen for about 30 disorders, no matter the state you live in. That is mandatory. In Europe, they only screen for two things. China screens for one illness. Most countries do no screening at all. Wow, and I thought our program sucks…

Hope for me?

I don’t believe that my issue will be fixed with one broad sweeping policy change, as much as I desperately want it to be (I was prepared for this, so don’t worry). Instead, I have to keep my eyes out for any small way that this can be sneaked into current things they are working on.

Option #1

They have a new project they are kicking off, where they have identified the top ten “Quality Indicators” for the state labs across the country. Basically these are ten questions they will ask labs that rates their overall performance in relation to their fellow labs across the country. Some of their “Quality Indicators” are:

• Number of false negatives or positives they get in their lab when they screen new babies.
• When is the illness revealed? During the first time they screen? The second? Later?
• Number of eligible infants that qualify for testing
• Number of times a parent refuses testing
• And, my personal favorite, they plan to ask them to record the timing of the test, reporting and diagnosis to measure the turnaround time of the test (yay!). 

There is pushback on this program in that it will take time for the already overloaded labs to participate in this collection of data. To entice participation, they plan to put together a certification around it combined with other things I am sure. Though, my concern is, collecting data is one thing. Actually doing something with it is quite another thing entirely. It will take two years to get up and running.

Option #2

I spent a lot of time talking with doctors from the CDC (Centers for Disease Control). The CDC just released a book of best practices for public health labs. They presented on it to ask the committee for it’s support. It is a really thorough book that my layman’s eyes have a hard time getting through (I have my very own copy which is kind of fun!), BUT, they address the issue in there by directing labs to be sure to send their blood spot cards to the state lab within 24 hours of collecting it. I was excited to see this in there. Though the best practices are a great source of information, participation is voluntary. It seemed like, from the conversations I heard that public health employees must do a certain amount of continuing education credits a year, and reading this book counts. Since the report was released in April, they have had 107 sign up to do it, and 69 have completed it, earning their continuing education credits so far.

When they presented their report to the committee, they ripped it apart and chose not to endorse it. They were concerned that the CDC didn’t build in a way to measure success or value of having the book available. They thought it regurgitated things that are already out there, and that it was too short sighted. They also asked why they wanted the committee to endorse it, and the CDC didn’t really have a good answer. I was thinking though, that since having the backing of this group was so important to the CDC that perhaps a revision of the best practices might be considered at some point perhaps, so I made sure I met all the doctors that were a part of the project. I thanked them for being so thoughtful about turnaround time of tests that they thought to include that point. I gave them my little one-sheet story with my requests listed on there, and asked if they revised the book, if they would consider expanding on that point by adding in my requests. They were flattered that I found that helpful, and said that of course they would. Yay!

Option #3

I talked with the March of Dimes representatives. I really think these people are kind of done with me. They were polite and friendly, but didn’t spend too much extra time on me if they could help it. Since they don’t have it in them to formally tell me to buzz off yet, I will keep trying. In a few minutes of brainstorming, they thought that perhaps the committee would be interested in doing best practices. I asked a bunch of committee members and their response was “I think we already have that somewhere?”

The other idea that came out was establishing a ranking system of all of the states, that looks at the number of disorders that each state tests for, when the initial blood sample is taken, how it gets to the lab, how long the lab takes to return results, etc. We figure out a ranking system of who does this the best, and who does it the worst, and then we publish it.

When talking to the committee members, they kept saying “well that Colorado…I can’t believe they do that!” as if the problem was only in Colorado. I patiently explained to them that it is in multiple states across the country. They’d ask me which ones, and I would list off the ones I knew, and say that I know that there are more. I think it is on me to get that data.

I talked with one of the doctors about it, and she pointed out the doctor doing the big data project, and said that I should ask him. Also, she counseled me to be careful about how this information is published. It’s the old phrase, “you catch more flies with honey.” If I give a big public stink eye to the worst states, they can be defiant and decide not to participate in any change. I am thinking the March of Dimes may be the best helpers on this if they will do it, since they have representatives to help in each state to deliver information conscientiously. If they will help. We will see.

Option #4

The folks I talked to at the Association of Public Health Laboratories are gearing up to start celebrating the 50th anniversary of newborn screening in 2013. They have a number of activities coming up. They are doing a “Day on the Hill” in Washington DC in September 2013. Possible next trip to DC perhaps? Curious what that will end up being. Another great opportunity to speak with people perhaps.

They are also putting together a coffee table book that will be published in 2013 about the history of Newborn Screening. They need real stories from families, and a couple of the docs asked if I would do it. I said “yes of course,” granted, I can’t help asking myself why they would want my story, considering that we have one of the worst stories of newborn screening! Whatever. If it pans out, it is another great opportunity to network with people who are in a position to fix things.

Option #5

Boy, do I dare say this one out loud?! One of the things I asked after Noah died was “Why wasn’t I screened for this when I was pregnant??? Of all the vials of blood they took, and as much as we know about genetics, why?!!” I was told that that sort of thing is coming, but it likely won’t be available until my grandchildren are born. I am unsatisfied with than answer. 

This article was recently in the New York Times about doctors from the University of Washington that have developed a test that uses a blood sample from a pregnant mom in her first trimester, and a check swab from the dad, and do a full genetic profile. The test is insanely expensive at $20,000-$50,000 to run.

I talked about this with a few people and I feel there *might* be room for progress here, in terms of making this something that is cheaper and more widely available. This would circumvent the inefficient system in place today through the health department, so I am pretty excited about it. I don’t want to show all my cards publicly yet, since I don’t know how viable my fragile steps forward are, but I am chasing it down. It could be nothing, or it could be something. Who knows? Stay tuned.