Calories – Why you’re not just counting phe during maternal PKU

Like most women, I am no stranger to counting calories and limiting the amount I eat each day in order to lose or maintain weight goals. When returning to the low-protein PKU diet in January 2013, consuming a higher amount of calories was definitely a major concern of mine. In fact, I would say that calories – more so than taste – was a key decision factor for when selecting a formula. Let’s face it, when you’re drinking formula three and four times a day, those calories can rack-up fast!

But all that had to change after finding out I was pregnant.

Eating right during pregnancy

Before discussing calories and maternal PKU, here’s a quick look at what the National Institutes of Health recommends for progressively increasing calories throughout the course of a pregnancy:

• 1^st trimester: 1,800 calories/day
• 2^nd trimester: 2,200 calories/day
• 3^rd trimester: 2,400 calories/day

I suspect that because of the old adage, “when you’re pregnant, you’re eating for two,” most pregnant women do not have any trouble meeting those calorie goals. But if you have PKU, and are challenged with a low-phe tolerance, meeting those goals can seem next to impossible. Yet, doing so is just as critical as making sure you limit your protein intake.

Why you must count both phe and calories for maternal PKU

If you do not consume enough calories, your body can enter what’s known as a catabolic state. It’s a big concern for those in the bodybuilding industry because without adequate post-workout nutrition (a.k.a. a protein shake), bodybuilders are at risk for excessive breakdown of muscle mass and could thereby end up throwing all their years of hard training down the drain.

While counterproductive for fitness gurus, this catabolic phenomenon can be downright dangerous for someone with PKU. That is because when you’re not getting enough calories your body tries to compensate by breaking down muscle for energy. And since muscles are comprised of protein, blood phenylalanine levels will increase as a result – this despite the fact you may be strictly adhering to a low-protein diet. As you can imagine, this could also have grave implications for maternal PKU since phe levels are doubled when crossing the placenta.

Five tips for getting those calories

So what’s a gal to do? First and foremost, I had to switch my train of thought. While still self-conscious about pregnancy weight-gain, I realize that there’s more at stake than my ego. There’s a baby now that depends on me to set all that aside and make sure I tackle the daily balancing act of eating right. Here are a few other tips I learned along the way:

• Switch to a higher calorie formula – As soon as I found out I was pregnant, I made the decision to switch to a formula higher in calories. I’m currently taking four, 50 gm servings of Phenex-2 per day, which accounts for 820 of my daily caloric intake.
• Create a stash of low-phe/high-calorie snack options – My favorites are Welch’s Fruit Snacks (0 mg/80 calories per 0.9 oz. packet), Rice Krispies Treats (26 mg/90 calories per bar) and Little Debbie Zebra Cakes (38 mg/161 calories per cake). Adding Biscoff European Cookie Spread (25 mg/90 calories per tablespoon) to low-protein raisin bread or apple slices is another great way to increase those calories. Though not really a snack option, making pancakes using the Cambrooke Foods MixQuick product is another great way to front-load your day with a high-calorie breakfast. I usually half the serving size, which still comes out to 200 calories.
• Always pack snacks – Make sure to also carry some snack options in your purse, car or backpack. This will help prevent you from being hungry while stranded without food options.
• Take the time to figure out the calories/per serving of your favorite low-protein recipes – In order to have the most accurate picture of how many calories you still need, be sure to take the time to figure out the calorie equivalents of each recipe ingredient. I was particularly challenged with this when eating my favorite Cook for Love recipes. Thankfully, with the recent launch of the How Much Phe website, this process is not nearly as painful. If you haven’t subscribed to the site as of yet, I highly recommend it – especially if you’re pregnant with PKU.
• Replenish what your burn – Lastly, don’t forget that if you exercise, you’ll need to eat more than what your PKU dietician has recommended. Tracking calories burned during exercise is not an exact science, but I have found that mobile apps like My Fitness Pal and RunKeeper can be very helpful in providing an approximate calorie deficit count. My Fitness Pal can be used as an electronic food diary but unfortunately it isn’t all that convenient for those on the low-protein diet. However, I’m still able to use the app in a limited fashion by setting up a user profile that tracks my current weight, sedentary lifestyle, and estimates how many calories burned after completing a workout. RunKeeper is another calorie tracking app that uses GPS to track run/walk distances and then estimate the number of calories burned. I use both on a regular basis and have found that RunKeeper is great for cardio and My Fitness Pal is good for other exercise options like weight lifting and prenatal yoga.

I should also say that I haven’t taken this as a free pass to eat whatever I want. If I notice at the end of the night that I’ve already met my calorie goal, but still need some phe, I’ll opt for some yogurt or other low-calorie option to meet that goal without going overboard on the high-sugar, high-calorie options.

–NM

What’s in a name? A closer look at changing the name of PKU

Recently, the American College of Medical Genetics and Genomics released new guidelines in support of lifelong treatment for PKU. Among other recommendations, the organization also suggested the name of the disease be changed from PKU, short for phenylketonuria, to phenylalanine hydroxylase deficiency, or PAH deficiency.

The ACMG acknowledges that there are several ways to describe PKU severity and specifically calls-out at least two naming conventions that are commonly used:

1. PKU, the more severe diagnosis where untreated patients have blood phe levels greater than 1,200 μmol/l or 20 mg/dl and,
2. hyperphenylalaninemia, which represents a milder diagnosis where untreated patients are still above what’s considered normal but less than 1,200 μmol/l or 20 mg/dl.

After the National Institutes of Health introduced the term hyperphenylalaninemia in 2000, we started seeing an increasing number of clinicians, patients and families of patients refer to the first, more severe category as classical PKU. The new name PAH deficiency, the ACMG proposes, would eliminate the practice of using the blood phe level as the standard of classification by representing all of these variations.

The communications and marketing professional in me knows that over the life of a product or business, there may be many reasons the decision is made to change a brand name including mergers/acquisitions, changing markets, new leadership, and to even eliminate a negative reputation.

In the case of PKU and the ACMG’s recommended name change, the decision was made because PAH deficiency more accurately describes what the authors refer to as the “spectrum of severity.” But, it’s worth noting that descriptive names can also have their own subset of issues. Brand names that are too literal can become forgetful or inaccurate over time. Names that are too complex or long can impact a person’s ability to pronounce or remember it.

What’s more, we also know that the use of medical jargon can make it difficult for individuals to absorb and process health-related information. So what will the impact be when folks within the PKU community try to make the transition to phenylalanine hydroxylase deficiency? When phenylketonuria was introduced into the vernacular in 1934, it likely created its own source of confusion in the patient community. Yet, there is something to be said for brand recognition. Overtime, the brand familiarity of PKU has become stronger within the community and it’s likely that many PKU patients have a strong association with the term PKU, and to some extent, identify themselves with the now-outdated term.

It will take time for PAH deficiency to be wholly embraced. Even I have started to wonder, “What does this name change do to the title of my blog?” I’m not quite ready to makeover PKU Parlor, but I can acknowledge that with the name change there could be some benefits. For example, wrapping-up the varying levels of PKU severity under one umbrella may go a long way for securing universal medical food and formula coverage. Lawmakers and other decision makers will be less inclined to offer coverage to a severe group of PKU patients while simultaneously denying or restricting access to those with milder cases.

So as a member of the PKU PAH deficiency community, how do you feel about the name change? Are you reluctant to make the transition? Or do you embrace the new name and find yourself excited for the fresh start? I’d like to hear from you and what your reaction was to the suggested name change. Also, if you ever thought of alternative names for PKU, be sure to share them in the comments field below.

–NM

Setting a standard for the treatment of PKU

There’s some wonderful news floating around the PKU community this week: The American College of Medical Genetics and Genomics, in partnership with Genetic Metabolic Dieticians International, have released the first-ever, specific medical and dietary guidelines for the treatment of PKU. These guidelines are based upon the National Institutes of Health (NIH) 2000 Consensus Conference for PKU, the 2012 NIH Scientific Review Conference and a review by the U.S. Agency for Healthcare Research and Quality.

If you aren’t familiar with the healthcare industry, you may be asking yourself, “What’s the difference between medical consensus and medical guidelines?” Last year (in 2013), the NIH retired its consensus development program, but since it was created in 1977, the program created agreed-upon statements interpreting what was currently known about a medical condition as well as what research gaps might still exist. These statements—like the one the NIH issued in 2000 for the treatment of PKU—are then used to develop medical guidelines. Your medical team located at your local PKU clinic will use these guidelines to support the decisions they make related to your care. The introduction of these guidelines will undoubtedly play a critical role in ensuring that all patients in the U.S. and Canada receive the highest quality of care and treatment in the management of their PKU.

Listed below are the key recommendations from the new guidelines as summarized by the National PKU Alliance. Be sure to visit the New Guidelines for PKU section on their website to read a full summary or to download the new guidelines for the medical and dietary management of PKU.

• The guidelines refer to PKU as phenylalanine hydroxylase (PHA) deficiency.
• The treatment of PKU is lifelong with a goal of maintaining blood PHE levels in the range of 120-360 umol/l (2-6 mg/dl) in patients of all ages for life.
• Patients treated within the early weeks of life with initial good metabolic control, but who lose that control in later childhood or as an adult, may experience both reversible and irreversible neuropsychiatric consequences.
• PAH genotyping (i.e. mutation analysis) is recommended for improved therapy planning.
• Medical foods (formula and foods modified to be low in protein) are medically necessary for people living with PKU and should be regarded as medications.
• Any combination of therapies (medical foods, Kuvan, etc) that improve a patient’s blood PHE levels is appropriate and should be individualized.
• Reduction of blood PHE, increase in PHE tolerance or improvement in clinical symptoms of PKU are all valid indications to continue a particular therapy.
• Genetic counseling should be provided as an ongoing process for individuals with PKU and their families.
• Due to an increased risk for neurocognitive and psychological issues, regular mental health monitoring is warranted. A number of screening tests are recommended to identify those in need of further assessment.
• Blood PHE should be monitored at a consistent time during the day, preferably 2-3 hours after eating.

In the coming days and weeks, I’ll take a closer look at some of the specific issues outlined within the guidelines and discuss them in more detail here on PKU Parlor. I hope you’ll stop by and chime-in with your thoughts too!

–NM

Adhere to the PKU Diet by Adhering to Each Other

Whether you call it compliance, adherence or some other politically correct term, maintaining a well-controlled PKU diet can be just plain hard! Some might think that as you get older and the longer you’ve been living with PKU, then the easier it gets to stick with it. It’s quite the contrary though. Instead, there are challenges at every stage of a PKU patient’s life…everything from infancy and adolescence, to adulthood and maternal PKU.

Source: World Health Organization, 2003

Much research has been conducted to examine some of the factors that impact a person’s adherence to the PKU diet. In fact, the World Health Organization recognizes five dimensions to medical adherence: social/economic factors, provider-patient/health care system factors, condition-related factors, therapy-related factors, and patient-related factors. Another health organization, the National Institutes of Health, took a closer look at how some of these dimensions applied to the treatment of PKU:

• Complexity of the treatment – requiring regular blood samples; daily diet records; maintenance of a highly restrictive diet consisting of a medical food, special low protein foods, and a strict vegetarian diet; and visiting a PKU clinic several times a year.
• Palatability – having to do with whether the medical food tastes good, has an appealing texture, and smells appetizing.
• Accessibility – specifically, barriers to insurance coverage and inability to cover medical costs.
• Portability – dealing with the challenges in eating low-protein when at school or work, when traveling on vacation, or any other time you find yourself away from home.
• Peer pressure – mainly dealing with adolescent patients who are seeking more independence from their parents and looking for acceptance among their peers.
• Family factors – related to the education level of the PKU patient’s parents and the willingness of extended family to support the PKU diet.

Honestly, entire blog posts could be devoted to each of these, but there’s something to be said for looking at these barriers as a whole. The reality of living with PKU is that patients must live with the combined burden of each of these factors – not to mention the chronic, no-cure status of the genetic disorder – all of which can just wear you out!

There is some good news though. We’ve all experienced our own trials and tribulations, but more than likely, we’ve also had our happy endings. The PKU community consists of a strong network of individuals who have adapted when necessary, learned to innovate when the situation demanded it, and most importantly, shared their experiences with others who might also benefit from their lessons learned.

For example, here are just a few tips for adhering to the PKU diet, all of which were shared among attendees at a recent PKU cooking workshop in Chattanooga, TN:

• Parents should acknowledge any frustration their PKU child might express about being on diet, but they should also realize that “it is what it is.” Parents who say they feel bad or guilty that their child has diet restrictions will only enable adherence issues.
• Recognize that we shouldn’t just treat the diet, but we should also address the emotional side that comes with PKU.
• For fitting in at school, parents can arrange introductory PKU meetings with their child’s teachers or cafeteria workers; send Rubbermaid tubs with PKU friendly snacks for when other students bring in high-protein birthday treats to share with the class; and role play with your child so he/she becomes comfortable with answering questions about PKU.
• For fitting in at work, pack your lunch and several low-protein snacks. If a group goes out for lunch, consider eating before they go or take your lunch with you to the restaurant. Many restaurants have low-protein items you can order from the menu. Be sure to surround yourself with friends who know about PKU – you might be surprised to see them start explaining PKU for you when others ask. And believe it or not, role playing can also work with adult PKU patients.

Certainly, these are all great suggestions, but I’m willing to bet you also have a tip or piece of advice worth sharing. If so, please tell me about it in the comments field below!

–NM

Maternal PKU and Sapropterin

This past February, the National Institutes of Health (NIH) hosted a scientific review conference on Phenylketonuria to discuss the “state of the science and future research needs.” The event was free and open to the public, but even if you could not cover the cost of travel and accommodations, the two-day event was also broadcasted live via webcast. I managed to log-on during my lunch break and listened intently to a session on PKU and Pregnancy. To my surprise, much of the PKU and Pregnancy presentation focused on Sapropterin and its use during maternal PKU (Sapropterin is the generic name for Kuvan, the first prescription drug approved by the U.S. Food and Drug Administration to lower blood phe levels in PKU patients).

To be clear, Kuvan is not recommended for maternal PKU unless the benefits outweigh the risks. That is because when ranked on the FDA’s pregnancy classification of drugs, Sapropterin is considered a category C drug since it is still unclear whether Sapropterin crosses the human placenta.

Click image for larger view.
Source: http://depts.washington.edu/druginfo/Formulary/Pregnancy.pdf

Research presented at the NIH conference confirmed that in some rare instances, Sapropterin had been prescribed to pregnant PKU patients, but only when the woman could not achieve dietary control at the start of her pregnancy. As early as 2005, Sapropterin was the focus of a study led by medical pioneer and PKU advocate Dr. Richard Koch. The patient was responsive to Sapropterin and during her pregnancy, she continued the medication at 40, 60, and 100 mg per day in the first, second, and third trimesters. Used in combination with low-protein food, optimal phe levels were achieved without any nausea and vomiting. More importantly, the woman’s child was born normal. Four years later, another study conducted by one of the presenters, Dr. Gabriella Pridjian from Tulane Hayward Genetics Center, reported on another pregnant PKU patient who had difficulty tolerating low-phe protein supplements. She was instructed to divide the Sapropterin up twice daily and ultimately had a healthy baby delivered through c-section. Pridjian noted that there were plans to eventually formally test the baby (who was now three years old) for any intellectual or developmental issues.

In addition to these two case studies, the NIH panel reported that other pregnancies involving the use of Sapropterin were currently underway. In addition to concerns about whether Sapropterin harms a developing fetus, doctors admitted it was hard to determine if symptoms such as headache, rhinorrhea, vomiting, fever, abdominal pain, rashes or nasal congestion were a result of the prescription drug or simply associated with the pregnancy.

Even though the maker of Kuvan, BioMarin, does in fact encourage pregnant women who were exposed to Kuvan during their pregnancy to participate in ongoing studies about the drug’s effect, there are no plans for future controlled studies. Based on what little has been conducted, including the two case studies I’ve mentioned here, initial reports of using Sapropterin during pregnancy are encouraging. However, continued research on this matter is definitely a must, especially with concern to the long-term implications the drug might have on a PKU woman’s child.

–NM