Health Topics

Questions from Listeners

Andrew Schorr:

Dr. Antshel, here's a question that came in from Lynn from Boston that I wanted to address to you. She writes, 'My daughter's PKU was picked up at birth, and she was always in good metabolic control. She suffered from many, many seizures from age one through about age six. I always suspected that this was related to her PKU, although her geneticist felt that it was related to her holding her breath. A well-known doctor from Los Angeles Children's Hospital seemed to believe that her symptoms were consistent with PKU.' So now her daughter is 12, and the seizures no longer exist. Can you shed any light on this?' Now I know you can't sort of practice medicine and clinical psychology over the Internet, so maybe if you've seen this sort of thing, but she had the seizures for five years, so doesn't anymore now years later, but mom's wondering well how could they come and go?

Dr. Antshel:

Right. I think if the levels were high that certainly could be something that could be related to the PKU, but in well-treated PKU that's not something that we typically see, the seizures, and so certainly there's a tendency to try to ascribe all sorts of things to PKU, but if the levels were well controlled seizures, I mean that's not necessarily something we see very often in PKU. So certainly I don't know this particular case well enough to offer an opinion, but I would say that this is something that is relatively uncommon in well-treated PKU.

Andrew Schorr:

Okay. Well that's "well-treated PKU" I think that's what we want to emphasize for people today and help them know what it takes to get there.

Here's another question we got in, and it relates to, well we're going to talk about pregnancy and fertility for a minute. So Carol writes in, and she says, 'Dr. Antshel, a family member is going through fertility treatments, and they have asked me to find out what mutation my son has. Isn't it an expensive, non-insurance-covered test, and is there a reason to get him tested outside of helping my family member?' So all about genetics for the family member that has PKU and some intelligence, if you will, for others.

Dr. Antshel:

That's a question that we get asked quite often, and I don't really understand the vagaries of insurance, but I can tell you that I think a lot of times if it's for fertility treatments then the issue of medical necessity comes in, and getting mutation testing for fertility treatments I can at least tell you from my experience in New York State a lot of times that's not going to be covered by insurance, and so is there a reason to get him tested? I don't think that necessarily is something that we at least recommend to our patients. Is that something that would be of any assistance to anyone outside of the family member? I think that's a very good question.

I know the mutation testing really doesn't have a lot to do with how well they're going to respond to medications such as Kuvan or other medications, and so it's not typically something that's routinely recommended.

Andrew Schorr:

Julie, have you had a genetic test?

Julie:

I have not, but my brother did.

Andrew Schorr:

Okay, and what did you do with the information?

Julie:

Oh actually Heather did I have one? I'm sorry?

Andrew Schorr:

What is your brother who by the way is studying to be a lawyer, a pretty smart guy, your brother with PKU, what has he done with the information?

Julie:

I know he gave it to me, and I gave it to Heather.

Andrew Schorr:

Okay, all right. Heather, what about the genetic test? How important is it?

Ms. Bausell:

We do offer it to our patients, and it is basically a tool to be used for family members if they are wanting to specifically look at a particular mutation to see if they are a carrier, but beyond that it may give us a little more insight whether they are a more classical or mild patient depending on the mutations, but we typically know that based on what their Phe tolerance is and what their levels have been like. So it isn't a necessity for sure.

Andrew Schorr:

Ruth M. wrote in, I'm not sure where she's from, and she said I'm interested in understanding the characteristics of the mutations and the symptoms and Phe tolerance that they exhibit and the potential impact that some of the new drug treatment protocols may have on them. So Dr. Antshel, is there any correlation between the characteristics of the mutations and what medicine now or one in the future how this might work because we're in this age of sort of personalized medicine, so what's your thought about that?

Dr. Antshel:

Sure, well obviously I'm not able to speak to what's to come in the future, but I can say with regard to Kuvan there really isn't a lot of evidence that a particular mutation will respond better or worse to Kuvan, and so the potential impact on new drug treatments and protocols in the future obviously I can't speak to them but I know what we have currently available there really isn't a lot of evidence that mutations are predictors of how they'll respond to the drug treatments.

Andrew Schorr:

All right. We have about ten more minutes for your questions so don't wait. You can give us a call, or if you want to e-mail in a question just send it to PKU@patientpower.info. Now you're going to have five more programs that we've got coming up through the spring and into the summer on a variety of issues, but we welcome your questions at any time.

I mentioned that we're going to talk about pregnancy. Here's one that comes in from Cindy in, it's interesting, it's about pregnancy, and it's from Fertile, Minnesota, so that seems like a good place to get pregnant. Okay, 'What are the risks for my daughter with PKU having a normal pregnancy?' So her daughter I believe is already pregnant, and she says, 'She has been back on her diet well before she became pregnant although she's had some trouble keeping a steady Phe level. Her Phe level has been as low as 0.4 and has high as 6.0. So Heather, Phe levels in pregnancy because grandma worries about that. Any comment?

Ms. Bausell:

Yes. Definitely during pregnancy as we know it is critical to keep the phenylalanine levels between the level of two-six, and at sounds like this woman has actually done a pretty good job keeping them within that range. I know that there looks like there was one that dipped a little bit below two, but during pregnancy we know that the phenylalanine levels actually cross the placenta, so the baby is getting exposed to those high phenylalanine levels, and we know that particularly at the beginning of the pregnancy when the heart and the neural tube is developing that is when it is very important to have levels in good control because we know that things like heart defects, small head size, mental retardation and things like this can actually be caused from elevated phenylalanine levels. So as far as what we have so far on this woman it looks like she's done a pretty good job of keeping those levels within that range. I know at our clinic we actually have maternal PKU patients check levels twice a week, so we're making pretty intense changes on the diet if need be, so that's definitely a good question.

Andrew Schorr:

All right, now we had a discussion a moment ago about whether genetic mutations are relevant or what for, so guess what? I like to think he's the grandfather of PKU, Dr. Richard Koch from Los Angeles who is with us. Dr. Koch, thank you for joining us. You have a different point of view about the genetic mutations. Tells us about that.

Dr. Koch:

I think the mutations are very important. If you have two severe mutations you know you have a tough problem because they don't respond to Kuvan and so your entirely on the diet, but if you have a patient that's one severe and one mild they respond to Kuvan nicely, and so you can get both the diet and the Kuvan, but if you have a patient with two very mild mutations they get along on Kuvan alone, so I personally think that every patient who's contemplating pregnancy or is pregnant should really know what the mutations are, and the doctor should treat her appropriately.

Andrew Schorr:

I'm not going to let you go for a second Dr. Koch, because you are a world renowned expert in this, and I appreciate you listening. The whole point of tonight's program is connecting people with quality PKU care, and I know you wish that the medical students you've trained that they were on every corner and somebody would be knowledgeable about PKU, but it sounds like for instance with the subtleties of genetic mutations that it really is important for someone with PKU to at least have a relationship with a center where they're knowledgeable. Wouldn't you agree?

Dr. Koch:

I think most PKU centers like the one in Chicago that you're dealing with today are quite familiar with the mutations. The only big problem we've had in the United States is that they've never been paid for, and the only reason we have mutations on each of our patients is because we had NIH grants that actually paid for it, but at one point in time they usually cost a thousand dollars. Of course with the dollar weakening now the cost if you send it to Europe is much more, but fortunately Canada is doing them, and we have two or three clinics now in the United States where clinics are doing mutations, and the amount of money involved still is not covered by insurance companies, and I'm hoping that one of the things that I can accomplish with President Obama in there is that we can get him to cover PKU.

Andrew Schorr:

Right, Go Obama. There we go. Dr. Koch, thank you so much for calling in and being with us as a surprise celebrity guest. Thank you so much sir.

Dr. Koch:

You're welcome.

Andrew Schorr:

Okay, well let's go back. So Julie, I want to get back to you, and that is you are going to be married, right, in just a few months. You got engaged just before New Year's to Paul, and somewhere down the road considering a family. Do you worry at all about getting pregnant with PKU? I know we've had Dr. Koch on before, and he's helped people manage it really well as I'm sure Dr. Burton would with you. Any concerns, or are you going into it with confidence?

Julie:

I definitely think there are concerns. I was misinformed or didn't have all the information I could have when I lived in New Mexico, so I didn't even know a normal baby with pregnancy was possible when I was younger, so I was really excited to hear that when I started seeing Dr. Burton in Chicago, and you know I think a lot weighs on your mind to make sure you do everything right, but from the experiences I've had with women I've talked to through the clinic and stuff they tell me it just becomes a natural motivator to be absolutely perfect and do whatever it takes during the pregnancy. So it's inspiring, and it's still a little nerve wracking because you're thinking of someone else at the same time too.

Andrew Schorr:

Well we're going to connect you with a guest on one of our earlier programs from Orange County I believe, Vivianne Wightman, and she had a healthy baby, Dr. Koch helped her through it, and it would be the same thing Dr. Burton and Heather would do with you in Chicago, so when you and Paul are ready, no rush, and your mother I'm sure wants some grandchildren, so anyway we'll work on that, but this all comes out of our message here tonight and that is connecting with knowledgeable providers. So we have Dr. Antshel from the psychological perspective, Dr. Koch of course is an M.D. who called in and is listening, Heather Bausell a metabolic dietician; so these are the kinds of people who can help you, and so at any age I think it's important.