Health Topics

Listener Questions

Andrew Schorr:

I’ve already got some questions.  Here’s one came in from Karin.  I’m going to give this one to you, Nicole.  Karin writes in, “My daughter just started school and so far I’ve packing her lunch every day.  However, I would like for her to have the option to eat in the school cafeteria.  What’s the best way to approach this with the school?  And do you have a list of standard foods I can tell them to get for her?” 

So this is kind of parent training and kid training because that little kid is going to go out on their own one day.  But what about at that level of school, Nicole? 

Ms. Payne:

I am totally in this mode right now since it is back to school time and I get asked this question all the time.  I would suggest that Karin first meet with the principal of the school, the school nurse and whoever is in charge of the kitchen, which is usually a food service director, and she can get menus several months in advance and work together with the school to determine which foods are appropriate to allow in the diet that are already on the menu and how to purchase foods that her daughter may like that can be substituted for the foods that are not allowed on the diet.  And then allow her daughter to select two or three days a week that she would like to buy lunch and maybe continue packing for a few days a week as well to make the transition a little easier.

Andrew Schorr:

Okay.  I have is question for you.  We talked a lot about diet and formula and mentioned that--and in the video you see Breanna take a number of pills.  I think she takes ten Kuvan pills every morning.  How do you get the child into that routine where there’s formula, there’s food and there’s maybe medication as well, Nicole? 

Ms. Payne:

I would say it’s definitely not as challenging as it sounds.  The formula is supposed to be used as a substitute for a beverage, like a milk, and the medication is typically dissolved into either the formula or another beverage.  So it’s definitely manageable within the meal setting. 

Andrew Schorr:

Dr. Rosenblatt, how do you have a young person understand that these approaches, diet, maybe formula and medication, make a difference, that they have to own it and also understand that, you know, they can be--maybe at some point they were angry with this condition, PKU, but that it’s just part of the deal and these approaches are really critical to them doing well, Dr. Rosenblatt? 

Dr. Rosenblatt:

That’s a very difficult question because as you know young adults and teenagers don’t always see that far into the future, and the sequences of not following treatment for one’s PKU can seem rather remote.  And you have to add to that the fact that many people that have PKU have some of these problems with apathy and with organization.  And so this is going to seem like a counterintuitive answer, but in some cases you can’t get the person to understand the importance of the routine, and that can’t be the only thing that will motivate them. 

When the situation is very, very important for them, for example when a woman is contemplating pregnancy who has PKU, sometimes you can break through that and the person who didn’t previously do a good job will become so motivated that they will do a good job, but I think the key is routine.  You have to take the person by the hand and get them into a routine that can take on a life of its own.  And we have to try to get away from this very frustrating feeling, I just can’t make him understand.  If I could only make him understand then he would do what’s best for himself.  Because in somebody who is already having problems that probably isn’t the key to success.  Now, somebody who functions very highly, like the people who we’ve talked to, that’s not so much of an obstacle, but they clearly already do understand.  They seem like, you know, a parent’s dream.

Andrew Schorr:

We mentioned clinical trials, Nicole, and I know you’re often a co-investigator in trials.  So right now we have Kuvan.  We’ll mention something about PEG-PAL in a second which Kaitlyn is involved in.  So how you do help kids--how do you explain to them, let’s say if they’re put on Kuvan for example, that this could make things easier for them, and certainly the control of Phe and looking at those levels you hopefully can see a difference in some kids and go over that with them so they see a benefit? 

Ms. Payne:

I think most of our young adults and teenagers are definitely willing to give anything a try that could help manage this very difficult diet, so most are very open to trying Kuvan, although not all of them, as we know in the case of Kaitlyn, unfortunately, are not responders to the medication.  So in that case it is nice to have other clinical trials available that can give these teens going through challenging times a ray of hope for the future.

Andrew Schorr:

Let’s mention that.  So BioMarin is conducted two existing studies in the PKU population.  Now, the first study, clinical trial, is looking at a potential new treatment known as PEG-PAL, and Kaitlyn, that’s the trial that you’re in.  Am I right about that? 

Kaitlyn:

Yes.

Andrew Schorr:

I believe that.  And that’s to examine if you haven’t responded to Kuvan can this other approach help you have a decrease in Phe.  Now, do you have a clue how it’s working?  How are you feeling? 

Kaitlyn:

I’m feeling just about the same.  They’ve seen some changes in my Phe levels, decreasing, getting closer into good therapeutic range.  But as far as, I guess, outwardness, it doesn’t feel a whole lot different because I’m still sticking strictly to the diet and also to the formula.

Andrew Schorr:

Okay.  All right.  Well, we’re going to learn more.  That’s what research is all about.  There’s another study as well and that’s to help people who take Kuvan where there may be symptoms such as anxiety or depression.  Can it make a difference with that, difficult concentrating, lack of focus?  Can they help with those symptoms?  And those studies are still recruiting, so I’m just going to mention a phone number that you can call if you want to find out more about that.  There’s a nice lady to call, Katy Workman , and here’s her phone number in the San Francisco bay area, 415-506-6575. And then there are centers around the country like, Nicole, UPMC is a center, correct? 

Ms. Payne:

We are in the process of becoming a center.  That is correct.

Andrew Schorr:

Okay.  So probably a center hopefully near you with very helpful investigators like Nicole.  Now, Dr. Rosenblatt let me ask you this.  This came up in a question.  I just mentioned anxiety and depression.  How do you tease out what’s going on, what’s the PKU and what could be these other things? 

Dr. Rosenblatt:

You mean what could be a separate psychiatric condition like depression? 

Andrew Schorr:

Correct.  Yes. 

Dr. Rosenblatt:

Well, depression is very common in the general population, and so it’s not always going to be easy.  But I think some of the questions might be if you have a person--first of all, does the person really meet the criteria for depression?  Are they merely withdrawn and uninterested in things, or are they actually sad and miserable?  Do they have a negative opinion of themselves?  Are they hopeless about the future?  Do they have sleep and appetite changes?  Some of the things that would really clinch the diagnosis of depression rather than some of these kind of personalities changes that can be associated with PKU. 

Other questions might be does the person have a family history of depression in one or another of their parents.  Another question might be is this the way the person has been for years or is it more recent onset.  Was there something that precipitated it, like a break-up of a relationship or the loss of a job.  Those kinds of things might help you to decide if you’re looking at depression. 

But people with PKU can have mood and anxiety changes that are thought to be related to the PKU as well, and so sometimes you may every know the answer.  And in neuropsychiatry what we tend to do is if the syndrome is serious enough them we treat it like we would anything else.  So if a person with PKU has a serious problem with their mood, a serious problem with depression, they ought to see a mental health professional and have no reason to believe they wouldn’t respond to the usually treatments.

Andrew Schorr:

But, Nicole, clearly you’ve seen in your ten years of experience, and Kaitlyn mentioned irritability earlier, that as you control Phe levels, assuming there’s no other underlying anxiety that they might be more mellow.  Is that right? 

Ms. Payne:

We have certainly seen many adults who have been able to lower their blood phenylalanine levels enough to experience some positive benefits as far as decreased irritability, improved function of working memory, better interpersonal relationships or ability to maintain employment.  Those are all certainly things that we’ve seen throughout the years.

Andrew Schorr:

All right.  I have a question for you, Nicole.  It comes from Dave, who is a parent in Sweden.  Dave, thank you.  Maybe you’re up in the middle of the night too.  Here’s what Dave writes in.  “I’m the father of a fantastic four-year-old boy, Ian, with PKU, living in Sweden.  Which of these strategies do you believe is the best for a parent of a PKU child to adopt?  A, control of foods so that the PKU child never tastes any of the higher protein foods, cheese, eggs, meat, nuts, fishes, etc.?  Or B, allow very small samples on occasions of these foods but so the daily intake is not exceeded.  In other words,” he says, “I’m wondering if it is better to develop a better taste reference and self-control or is this asking too much?” 

He just doesn’t know.  What’s your recommendation? 

Ms. Payne:

Well, first of all, congratulations on being the father to a fantastic young child.  Secondly, that’s a very difficult question for me to answer.  We would prefer to empower our parents to make those personal decisions for what would work best within their own family.  I can say in regards to the very high protein foods that it is very difficult for most patients with PKU to fit even really small amounts of those foods into even a once-in-a-while type of a thing.  So we do tend to more often try to encourage families to focus more on the lower protein foods.

Andrew Schorr:

Kaitlyn, so what do you think about that idea?  Do you want to at least try sometime in your life and early in your life try anything and then maybe have to avoid it?  Or just not even know what it tastes like? 

Kaitlyn:

Personally, I was grown up and taught to avoid it.  I have never eaten any really, really high-protein foods.  I think it’s better that way because it’s easier for me as having PKU to develop that self-control that’s really needed in a lot of situations.  And it’s kind of like one of those things where if you haven’t tasted a high-protein

food then you don’t know what it’s like so you don’t necessarily notice you’re missing anything.  So my advice and the way I was brought up by both my parents was just simply avoid the high-protein foods.

Andrew Schorr:

Dr. Rosenblatt, do you have the same point of view or would it vary?  What’s your view on that? 

Dr. Rosenblatt:

I don’t really have an opinion on that that I think would be useful.

Andrew Schorr:

Okay.  And Nicole, what about you?  I wonder, should we taste it, should we not taste it?  So every family is different, right?  Do you give them permission, as you said, to figure out what’s right for them? 

Ms. Payne:

We give them permission within a certain framework.  If you have a child with classical PKU who is on a severe restriction it’s going to be very difficult to allow even a small portion of those foods into the diet.  But if you have a milder case of PKU then we certainly leave it up to the families to make those types of decisions.

Andrew Schorr:

Now, Nicole, at what age does this sort of maybe parent training, say, and child training start?  So we’re going to get to a point where whether it’s Breanna or whether it is Kaitlyn, they’re leaving town, and they will be on their own to greater or lesser degree.  At what point, at what age does the parent in your recommendation start working with the kid so that that child starts taking some responsibility for this condition? 

Ms. Payne:

We really recommend that parents start as young at age two with pointing out foods in the environment and talking about which foods are healthy foods for your body and which foods are not so healthy for your body.  Perhaps around age five starting to help measure the formula and pressing the buttons on the scale.  Kids around age seven or eight start to have the math skills to be able to start counting and help with their diet calculations.  So then by the time you get to having a 13- or a 14-year-old who is spending a lot more time out of the home with their friends they already have that skill set to be able to start to manage the diet on their own.

Andrew Schorr:

I want to mention another one of these powerful PKU patient videos that we produced, Molly, I call her the dynamo of Dobbs Ferry, New York.  And there’s wonderful video that she sent us, mom held the camera, where she’s making stuff in the kitchen.  She is Chef Molly.  I think she has an Italian name she made up for herself in the videos.  Take a look at that.  That’s a wonderful example of a child starting to take responsibility and actually cooking.  And her mom has this wonderful website if you don’t know about it called Cook For Love, and Molly has been very involved in that, too.  So that’s a great example. 

Here’s a question for you, Dr. Rosenblatt, and it’s about the parents of Giovanni, who is seven years old, and he’s hyper PKU and his levels, Nicole, are 2.5 to 3.0.  He has ADHD.  He has sensory auditory processing issues, learning disorder.  He’s been having a difficult time in school, and given the new findings now even when his PKU levels are low where kids are having a difficult time in school he’s wondering should they get an IEP or a 504 with the school.  What should they really be asking for for accommodations with all this going on?  Any guidance on that, Doctor. 

Dr. Rosenblatt:

Well, I’m not familiar with the exact terms that they are using, but I certainly think it would be appropriate to ask the school for accommodations.  The paper that I found useful recently if they have access to sort of a medical library was a paper by, I believe it came out in the year 2010 in the Journal of Molecular Genetics and Metabolism, and it was a lovely review article about the different psychiatric and cognitive problems that people with PKU can have in childhood and adulthood.  So that would spell out some of the things that are commonly seen.  So it’s well substantiated that children and adults can have various cognitive and psychiatric problems as a result of PKU. 

So what you would need then would be to have a doctor, and it could be a child psychiatrist or it could be the child’s pediatrician or child psychologist.  You would need somebody to give the child an official diagnosis to say something like learning disability, secondary to PKU, or something like that.  There are many perfectly appropriate psychiatric diagnoses that you can give that reference PKU.  And I think that oftentimes people don’t think about giving somebody a specific diagnosis, but in a case where you’re asking for an accommodation from the school having a specific diagnosis can actually be an asset because you can say this has been verified by a medical professional and so therefore I can now use this to ask for more time on exams, or an assistant to help with note-taking or different kinds of accommodations in the classroom that might help the child re have a much more successful school experience. 

So I think it would be appropriate, and I think they’ll probably prevail, but they need somebody to render an appropriate diagnosis.

Andrew Schorr:

I just want to cover some of that ground again.  We got a question just in from Amanda who is listening in Canada.  And so she’s an adult with PKU and she says, “I’ve had low levels now for five years but I suffer from anxiety and frequent panic attacks.  My doctors think it’s PKU-connected since I struggled so badly as a teen with high levels and high level symptoms.  I was admitted to the hospital many times in my youth.  I was also treated for depression and anxiety when I was 19.  I have great levels now and keep on track with my formula and all that and diet.  What else can I do, and how can I figure out if it’s PKU-related?” 

So that’s all these layers of the onion, and here retrospectively she’s worried about that, Doctor Rosenblatt. 

Dr. Rosenblatt:

If you read the Brum article depressed mood and anxiety are fairly common symptoms in people with PKU, even in people who were treated early with diet alone, which of course was the only treatment that there was until fairly recently.  So I think, as with any other condition that can cause depression, we’ll never know for sure if these things are PKU-related or not.  There’s no machine we can put somebody’s head in that will tell us whether their problems are related to PKU. 

But they won’t necessarily go away just because the levels are low now.  They may be an inherent part of having had PKU, having grown up with PKU.  And the treatments for panic disorder and for depression include various kinds of psychotherapy and counseling, and there are many different medications as well that may help.  And so I would say that these conditions are highly treatable and given a little bit of help she’ll probably recover.

Andrew Schorr:

I think she’s doing well now.  She’s wondering about looking back.  And, Amanda, thank you for your question.  Dr. Adam Rosenblatt, I want to thank you for being with us in the middle of the night in Athens.  I hope you have a great conference there. 

Dr. Rosenblatt:

Oh, thank you.  It’s going very well.

Andrew Schorr:

Oh, good.  And so now we need to let you get back and have a good night’s sleep.  And all the best when you get back to Johns Hopkins, and I know Nicole is going to invite you over to Pittsburgh, okay?

Dr. Rosenblatt:

That would be great.

Andrew Schorr:

All right.  Thank you so much.  Nicole, I want to get a final comment from you, and that is, young adults, so we have two great examples, Breanna and Kaitlyn, but someone like you with a metabolic clinic, you’re there for them, right?  I mean there’s somebody they’ve had a relationship with beyond their parents, and you’re there to help them through the highs and the lows.  They don’t have to feel they’re alone. 

Ms. Payne:

I think that’s very important.  We’re not here to wag our fingers and say you’re not doing a good job.  We are here to support you and we really want to see all of our young adults succeed so we can have more of these success stories.

Andrew Schorr:

Well, thank you so much for being with us, Nicole Payne, from UPMC, University of Pittsburgh Medical Center and the Children’s Hospital there.  And all the best with your clinical research. 

Ms. Payne:

Thank you.

Andrew Schorr:

Thanks for being an investigator, too, and we’ll have more conversations about that.  And Kaitlyn, the genetic Ph.D. candidate.  Hey, Kaitlyn, do you know any Spanish? 

Andrew Schorr:

I know a little Spanish.

Andrew Schorr:

Okay.  Good.  Because we’ve translated our programs into Spanish, and I’m going to give you a quiz, so I’m going to take you through our website.  We’re going to do everything about PKU in Spanish.  Okay?  Truthfully, I’m pulling your leg.  But we have all these Spanish translations and even now we’re posting some programs, original programs in Spanish with a metabolic expert, and it’s all there for you at patientpower.info/PKU.  And then, Amanda, you’re up in Canada and guess what, we’re doing programs in French, French Canadian, actually, and they’ll be posted there shortly.  So we’re making all our effort. 

Kaitlyn, any final comment from you that you want to say to the folks listening, particularly people your age? 

Kaitlyn:

I would just encourage them to accept the diet.  Don’t have pity on yourself.  I was always told to follow the diet, drink your formula and you’ll do okay and you’ll be successful and have a great young adult, rewarding part of life.

Andrew Schorr:

Okay.  Kaitlyn, all the best.  We’re going to check in with you and celebrate when you get that Ph.D. to hang on your wall.  Okay?

Kaitlyn:

Okay.

Andrew Schorr:

All right.  Now, we just want to remind you, we’ve got this vast library.  We plan on having other programs like this coming up.  So thank you so much for being with us.  I went a couple of minutes over.  We’ve got to get Dr. Rosenblatt back to sleep and you, wherever you are, on with your life, but I think there’s a lot of confidence that if you are making this transition there is support, there are treatments, there’s clinical research, there’s a lot of love to help you through it.  You are not alone if you are an adult coming back into treatment, a lot of support from people like Nicole and others who have been through it, too.  Check out the videos on our website. 

Thank you so much for being with us on this special edition of Patient Power on PKU.  And check out that whole library.  There’s so many more programs and others coming up.  Thank you for joining us.  Remember, knowledge can be the best medicine of all.  I’m Andrew Schorr.  Good night. 

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