Andrew Schorr:Okay. Laurie, let me ask you this. So let’s do a little, I kind of have a line down the mental piece of paper here, and the responsibilities for the provider in helping make sure that the Phe of the patient is in control and the responsibilities of the patient or the family. What do you see as your responsibility, and help our listeners understand what you believe is their responsibility.

Ms. Sprietsma:

As far as the patients’ responsibility and the parents’ responsibility obviously we want the levels to be done on time and diet records and coming to your clinic visits and doing all of those things I think when you have younger children and going into the teenage years, those are all things that are going to communicate to your children that this is a priority. So that’s really important not just to make sure that your child is getting adequate care but just to communicate again to them that this is a priority, these are important things that we need to do to manage your PKU.

Then of course your clinic needs to really work with you, and you should never be afraid to ask questions, to call when you need them, and obviously I feel our responsibility is to be there for the patients and not make them feel guilty but try to make them realize that we’re there to help them do the best that they can because this is a really, really tough diet. It’s one of the toughest diets out there, and there are a lot of challenges, and I think again our role is just helping them get through all of those new steps as they come along and just being there to support them and make sure that we’re staying educated ourselves about the new treatments that come along and communicating what those treatments are to our patients and making sure that they have the information that they need.

Andrew Schorr:

Dr. Adams, are there any stupid questions or when someone has a relationship with a clinic such as yours do you welcome those calls because again we talked about the qualitative things people may be wondering well is someone getting angry or moody or having trouble concentrating on different things, or they’re an adolescent and they’re really experimenting with their diet or don’t want to be different with other kids and questions come up. Do you welcome them all?

Dr. Adams:

Oh yes definitely. There is no such thing as a bad question. We take them all, and as Laurie mentioned, this is a very challenging diet, and we’re always happy to remain engaged with families to continue to talk to them, keep an open line of communication, to help them get through the phases. So certainly a patient who is two years old will be confronted, their family will be confronted with a different set of issues than a 13 or a 14-year-old, and so we’ve been through it, we’ve had patients who have been through it, and so sometimes we can be helpful in terms of offering advice or strategies to help get through some of those tough times.

Andrew Schorr:

Karen I’ve got a question for you. So the treatment landscape changes. We have the addition of Kuvan. Your son was in the clinical trial. It’s been three years now, and so he takes those four pills a day. Do you have any safety concerns at all or do you feel that both with the diet and with the medication that you feel that Patrick has a safe treatment plan and an effective one?

Karen:

I feel very confident in it. He does very well in school. He is healthy. He follows his diet. He understands the importance of it, and he knows the difference between the right foods and the wrong foods. I feel confident in everything I’ve done and the decisions we’ve made so far. Believe me, I’ve asked a lot of questions along the way to build that confidence, but yes I do feel like we’re doing the right things and always staying on top of what the next thing is on the horizon for him.

Andrew Schorr:

All right. I want to ask you about mistakes. So you told me in your household you have a pretty, maybe a very strict diet, and then there’s dad, Joe, and there’s son, Patrick, and you know they want to sometimes eat something that’s “male stuff” or whatever, you know. Have there been any mistakes that have just driven you crazy and then you’ve had to say wait a minute I don’t want to overreact and we can get back on track? It’s not life-threatening, you know?

Karen:

Yes there have been mistakes along the way, but honestly we’ve decided that you can fix it the next day. You work through the next day, and it will get better, and like Dr. Adam said, there are no immediate effects as in with a diabetic if they eat the wrong foods they can immediately feel it within their body. With Patrick one day’s mistake is not going to be the end of the world, but we just don’t want to expose him to things that he can grow a taste for and want that he can’t have. So we’ve been very protective of that, that he doesn’t eat things that should not be allowed at all. There are just certain foods where the answer is no, but we’ve had incidents with, you know, a babysitter once wouldn’t give him his dessert because he didn’t finish his dinner, but the dessert was the thing that he really needed to have because it had more Phe in it and it was to get him to his goal at the end of the day, so of course when we got home he was asleep, he’s not finished his Phe for the day,. So we adjusted the next day and moved on. Things like that have happened or we forget to write something down occasionally, and we say, well I thought you wrote it down, and I didn’t write it down, and those things happen where we shirk our responsibility a little bit, but then we pick ourselves up and say well we need to be more diligent today, and we do a better job. Luckily those instances are few and far between just because we’ve fallen into a routine of who manages what part of the day and which meal, and it just works for us. And Patrick helps now. He writes things down in his diet record and weighs his foods as well and reports to us, talks to us first, you know, ‘Can I have this much.’ And we explain to him what’s okay. So we’ve gotten him involved in it as well.

Andrew Schorr:

We’re going to take a call from someone who is listening, and that’s Christine has a question. She’s joining us I think Christine from Newcastle, Indiana. Is that right?

Caller:

Yes sir.

Andrew Schorr:

Where is Newcastle, Indiana?

Caller:

It’s about 45 miles east of Indianapolis.

Andrew Schorr:

Okay. Now is it you with PKU or you have a child with PKU?

Caller:

I have a four-year-old daughter who has PKU. She’s classic.

Andrew Schorr:

Okay, what’s your question?

Caller:

My question is you were talking about when their levels get too high about the way they act, the decrease in attention and their flightiness and their anger management and things like that. How do they act when their levels are too low?

Andrew Schorr:

Hmm, let’s ask Karen first. Karen, do you know? Has that happened?

Karen:

I don’t recall it ever happening where he was too low. He’s been too high when he’s been sick, but never, not that I know of, too low.

Andrew Schorr:

Okay Laurie, you see all sorts of patients. Too low? What does that look like in a kid?

Ms. Sprietsma:

You know, I think the levels being too low is more of a concern over time that because phenylalanine is an essential amino acid we would worry that the levels being too low over time could potentially affect growth, but I don’t know that a low level here and there, I haven’t really had distinct symptoms that parents have reported. With our young kids we encourage levels frequently and if the level drops too low we make a change so we don’t let it run too low for too long, but I think the concern with the low Phe levels is more just over time and that you’re going to be deficient in that essential amino acid. Even kids with PKU need some phenylalanine, and so I think the concern is more long long-term in its affect on growth.

Andrew Schorr:

Christine, have you noticed something yourself you’re wondering about?

Caller:

I’m sorry?

Andrew Schorr:

Have you noticed something yourself you were wondering about?

Caller:

No. Her levels had gotten a little bit too high so they opened her up, they gave her a little bit more Phe intake, and we realized, I’m sorry I got that backwards. They dipped down and they opened her up. She’s allowed 170 a day, and then opened her up to 180, and then they went too far up so they backed her back down again, and then she took another dive and she went down to 1, it was like 1.2. So it was kind of a, I don’t know whether she was going through a growth spurt or whether it was due to an illness, she had a stuffed up head and things like that, but we’ve got her back in range now, but I just wondered if theirs is anything because when she gets over six we do notice a difference in her behavior.

Andrew Schorr:

Right, and Dr. Adams that would be understandable right?

Dr. Adams:

Yes definitely. Low levels, again as Laurie was saying, in general if it’s occasional not a major issue, and levels of 1.0 are not bad. Levels below that; 0.2, 0.3; that’s really low, and just to bring up the point why it’s very important to stay engaged and to continue to talk with the metabolic center to continue to do levels so that these things can be tracked. Growing kids, their bodies are dynamic and changing, and they need phenylalanine to grow and make proteins, and so it’s a delicate balancing act. Certainly they can’t have too much, but at the same time they can’t have too little, otherwise that could impact their ability to grow normally.

Andrew Schorr:

All right. Christine we’re going to let you go. All the best to you and your child in Newcastle, Indiana, and I think you can have confidence that there are folks like Karen who are there.

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