Setting a standard for the treatment of PKU

new PKU guidelines, PKU standards, dietary and medical recommendations for 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

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Savory Broccoli Casserole – PKU-style!

PKU-Friendly Broccoli Casserole

First stuffing and now casserole? I must be on a comfort-foods kick! At any rate, here is an easy recipe for low-protein broccoli casserole. I estimate only 20 minutes of prep-time followed by 45 minutes of baking.

Ingredients

  • 3 tbs. butter, 1 tbs. melted and set aside
  • 60 gm. chopped onion
  • 10 oz. package chopped frozen broccoli
  • 1/2 of 10.75 oz. can (152 gm.) condensed cream of mushroom soup
  • 1/2 c Daiya Cheddar Shreds
  • 1/2 c (120 gm.) light mayonnaise
  • 1/4 teaspoon garlic salt
  • 1 teaspoon lemon juice
  • black pepper to taste
  • ½ c (40 gm.) low-protein garlic bread crumbs
  • 1/4 teaspoon seasoned salt

Directions

Preheat oven to 350 degrees. Melt 2 tablespoons butter in a medium skillet over medium-high heat. Sauté onion until golden. In a mixing bowl, stir together onion, broccoli (no need to thaw), soup, cheese, mayonnaise, garlic salt, pepper, seasoned salt, and lemon juice. Once thoroughly blended, transfer mixture to 2-quart casserole dish. Evenly spread low-protein garlic crumbs over top and drizzle with remaining tablespoon of melted butter. Bake uncovered in preheated oven for 45 minutes, until heated through and browned on top.

Yield: 4 servings at 175 gm each
Phe: 185 mg per serving; 739 mg entire recipe
Exchanges: 12.3 per serving
Protein: 6 gm per serving
Calories: 327 per serving; 1,308 entire recipe
Fat: 30 gm per serving

On the surface, the four servings may not look like there is enough to satisfy. If that’s the case, add more volume by mixing one serving with 1/3 cup of Cambrooke Foods’ Short Grain Rice. Cook the imitation rice according to the package instructions before mixing.

Enjoy!

–NM

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Five ways to recognize National PKU Awareness Day through Giving Tuesday!

PKU Awareness Day, Giving TuesdayLast year, in recognition of first-ever National PKU Awareness Day, I created a wish list of sorts for what a national platform could mean for a rare genetic disorder like Phenylketonuria. This year, I decided to make a different kind of list – one that capitalizes on the spirit of giving.

The inspiration for this list came to me after hearing a radio announcer observe that after just coming through Black Friday and yesterday’s Cyber Monday, today is known as Giving Tuesday. I immediately thought, what better way to celebrate National PKU Awareness Day (which also happens to be today) than to give-back to one of the many PKU non-profit causes!

So on that note, here are just a few ideas for how you can celebrate five worthy causes in honor of both National PKU Awareness Day and Giving Tuesday:

National PKU AllianceThe National PKU Alliance – Created in 2008, the National PKU Alliance was established to serve as a voice for PKU patients and families by focusing on a number of mission goals such as improving insurance equality, funding for peer-reviewed research and supporting the ongoing effort to find a cure. You can read more about this non-profit’s accomplishments in its 2012 annual report and tax deductible donations can be made through the National PKU Alliance website.

Bring Fanni Home

Bring Fanni Home – Anna Parker, a PKU patient/mom, and her husband Brandon have been trying bring home Fanni, a little girl in China, also with PKU, who had been abandoned on the public transit system at the age of four. The $30,000 price tag for international adoption can seem insurmountable; however, with the support of generous PKU community, we can help bring Fanni home to the Parkers. This Giving Tuesday/National PKU Awareness Day, consider making a $10 donation to this very worthy cause. Visit the Bring Fanni Home website for more details.

National PKU NewsNational PKU News – Located in Seattle, Wash., National PKU News is pushing its 25th year anniversary for providing current and accurate news related to PKU. Virginia Schuett, the organization’s founder is a former PKU nutritionist and is also responsible for several other fabulous PKU resources like the Low-Protein Food List, Low Protein Cookery for PKU and Apples to Zucchini: A Collection of Favorite Low Protein Recipes. According to the National PKU News website, “newsletter subscription fees and sales from books provide less than 50 percent of the financial needs of the organization.”  Your donations to this multi-faceted organization will help it reach its 25th anniversary and many more to come!

Cook for LoveCook for Love – This invaluable resource has been one of my favorite go-to resources for PKU recipes. Cook for Love is a culinary website created by Brenda Winiarski, mother of two PKU children. The foods she has created come as close to traditional, high-protein foods as any other I’ve seen. My mother has often joked that some foods on the Cook for Love website feel more like science experiments than a recipes, but honestly Brenda and her partners have done an amazing job mimicking food properties like the rise of a loaf without flour and the binding of a cake without eggs. Completely dependent on donations, all of the recipes posted to Cook for Love are free to access with the creation of a user name and password. A $25 donation will help ensure that Cook for Love can continue to maintain the website as well as the genius behind these tasty foods.

Tennessee PKU FoundationSupport your local PKU organization – Many groups like my local Tennessee PKU Foundation support efforts similar to the National PKU Alliance but on a more regional level. These groups also rely on donations to educate and raise awareness about PKU and other metabolic disorders. The Tennessee PKU Foundation accepts donations via mail or you may also contribute online. Be sure to check out your local PKU organization and contact them to see how you can support them.

–NM

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Low-protein stuffing

PKU stuffing, low-protein stuffing, low-protein dressing, PKU Thanksgiving

It is well into the 10 o’clock hour the night before Thanksgiving and I have just spent all day cooking a series of low-protein recipes in anticipation of the big holiday. Almost all of the dishes I made were borrowed recipes; however, I did try my hand at making an original low-protein version of stuffing.

Granted there are other options out there. A Facebook friend of mine made Glutino Gluten Free Stuffing and reported that it tasked pretty good. Also, Virginia Schuett’s “Apples to Zucchini” includes a recipe for Simple Bread Dressing that uses a loaf of low-protein bread. However, if you do not have enough time to bake a fresh loaf—or can’t find a local store that carries Glutino products—here’s a simplified recipe for low-protein stuffing that tastes pretty dang authentic:

Ingredients:

2 Cambrooke Foods Artisan Bread
140 gm chopped onion
200 gm chopped celery
3 tbs butter
186 gm of Swanson vegetable broth
1 ½ tsp of poultry seasoning

Directions:
After defrosting the Cambrooke Artisan Bread overnight, slice the rolls with a bread knife into one-inch thick slices. Place on a baking sheet and broil for 2 minutes. Flip slices of bread and broil for another 2 minutes. Remove toasted bread from the oven and place in a large mixing bowl to cool.

Meantime, melt the butter in a medium skillet over medium-high heat. Add onion and celery, cook until onion is clear and celery is al dente. Remove from heat and allow to cool.

Once sliced bread has cooled, use hands to tear and break into small bite-sized pieces. Sprinkle with poultry seasoning and toss until coated. Scrape the sautéed vegetable mixture onto seasoned bread and mix. Next, drizzle vegetable broth onto bread and vegetables until evenly coated; pausing the pour to toss the bread as needed.

Transfer stuffing to a casserole dish, cover and bake at 350 degrees for 30 minutes.

Yield: 4 servings
Phe: 42.8 mg per serving; 171.5 entire recipe
Exchanges: 2.9 per serving
Protein: 1.3 gm
Calories: 297 per serving; 1,186.5 entire recipe
Fat: 11.8 gm per serving

By the way, special thanks to my mother who helped troubleshoot this recipe in a practice round earlier this week. Love you, Mom!!

Happy Thanksgiving to all!

–NM

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Six things to know when selecting a new PKU clinic

transferring medical care, PKU, phenylketonuria, finding a new PKU clinicTransferring medical care to another provider can be a daunting process for just about anyone. For those of us with PKU – a rare condition affecting 1 in 10,000 to 15,000 – finding other professionals who are qualified to treat our condition might seem so unlikely that the feeling of uncertainty suppresses any intent we originally had for making that change. Yet, having a clinical team that both performs at a high level and achieves some level of compatibility with its patients is critical to ensuring successful treatment.

Setting PKU aside for a moment, consider how you might react after hearing the news that you needed to have open-heart surgery. It would not be unreasonable to expect that before electing to have the procedure you would conduct your own research, check hospital rankings and gather data about the surgeon’s experience. Open-heart surgery may be an extreme scenario to compare to the treatment of PKU, yet I would argue that the motivation for seeking out the best medical care should apply as much to a rare, chronic condition as it does to severe and sudden medical emergencies.

Perhaps no one has better illustrated the importance of a solid physician-patient relationship than Jessie Gruman, the founder and president of the Center for Advancing Health, when she served as a guest blogger for KevinMD.com. In the post, she writes:

“If I feel she has really listened to what is going on with me and what it is going to take for me to do what she recommends … if we together make a plan about next steps … if I trust her expertise and experience, I am much more likely to try to do my part. On the other hand, if I feel like she sees me as just the next problematic body part to appear on a fast-moving assembly line, if she is talking at me, not with me, if she interrupts, corrects me or ignores me, all bets are off. I’ll take her recommendations under advisement but do what I think is best.”

Earlier this year, I made the very personal decision to transfer my care to another PKU clinic. It wasn’t a decision I took lightly, nor did I make it in haste. I wanted to ensure that the professionals I partnered with were experienced with maternal care, had a successful (and recent) track record with mothers who successfully gave birth on the PKU diet, and most importantly, I wanted a clinical team who was refreshingly optimistic about working with maternal PKU patients.

Despite my motivation for transferring my medical care, PKU patients and their families seek-out alternative clinics for a variety of reasons. Not everyone looking for a new clinic does so out of dissatisfaction.  Families relocating because of a new job will also gather insight on new clinics located in the communities where they plan to move. Since it is conceivable that all PKU patients and their families might one day be faced with the task of finding a new PKU clinic, I thought it would be helpful to share some tips for making the transition as smooth as possible.

With that in mind, here are six things to know when selecting a new PKU clinic:

TransferringMedicalCare-No1What other metabolic clinics are located nearby? Are there other clinics in your state or what about across state lines? BioMarin’s PKU.com has a ‘clinic finder’ tool that will allow you to search for clinics based on your zip code and the mileage you are willing to travel.

TransferringMedicalCare-No2Does the new clinic accept your current insurance coverage? Contact your insurance company’s customer service department (the number is usually located on the back of your insurance card) and ask them to look up the new physician to see if they are considered ‘in-network.’

TransferringMedicalCare-No3Is there a fee to release your medical records? The federal law known as HIPAA, short for Health Insurance Portability and Accountability Act, guarantees the right to access your own medical records; however, some clinics may charge a fee to release them. Georgetown University’s Center on Medical Records Rights and Privacy offers a complete list of state-specific record release laws and fees. In some cases, if you request to have your medical records sent directly to the new clinic you may be able to avoid the processing fee.

Once you have found a possible new PKU clinic, schedule a new patient appointment and be candid about the objective of your meeting. You should approach this appointment with the same mentality as a job interview – making sure they are as good of a fit for you as you are for them. Here are some questions worth asking any new metabolic clinic:

TransferringMedicalCare-No4How frequently would you be required to visit the clinic? At a minimum, most PKU clinics prefer to see their patients on an annual basis; however, the frequency of visits may increase for some patients depending on the nature of their care. For example, newborns recently diagnosed with PKU and maternal PKU patients may need to travel for in-clinic visits more often. Thankfully, technological advancements are making it easier for healthcare providers and patients to work together remotely. Ask your clinic if they are comfortable handling a portion of your care remotely. As long as they are receiving regular blood levels and you are talking with them often via phone or email, they may not have any issues.

TransferringMedicalCare-No5What do you know about the staff’s credentials and the clinic’s operations? More than knowing a practitioner’s education, training and certifications, do they have physicians specializing in maternal PKU, newborn screening, adolescents, etc.? You may also want to ask about the patient to physician ratio. Are they overworked and spread thin? How does the clinic prioritize patients and how long can you expect for a turn around on blood work, returned phone calls, new prescriptions and other administrative processes?

TransferringMedicalCare-No6Is the practitioner willing to work together with your traditional healthcare providers? If you are seeking out a new clinic for maternal PKU, is the physician willing to collaborate with your obstetrician? If you are a parent of a PKU child, is it important to you that a PKU clinic works closely with your primary care physician to track growth, developmental progress and other medical concerns?

Managing the PKU diet can be labor intensive in and of itself…that is without having to take-on the hassle of finding a new physician. But keep in mind that proactive decision making will give you and your family a greater degree of control over your treatment. And in the end, it will all be worth it.

–NM

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Low-Protein Nachos

Fall is here and in the Merrifield household, that also means football! As a Pittsburgh-native and a University of Tennessee graduate, my college/NFL loyalties are split between the Tennessee Volunteers and the Pittsburgh Steelers. Even though we may not always win, getting everyone together for good food and drink is always a plus. So with this being the first football season during which I am following the low-protein diet, my husband and I have been brainstorming a few PKU-friendly party foods. Here’s a recipe for low-protein nachos recently concocted by my armature chef hubby.

Low-protein Nachos, PKU

Ingredients

  • 2 low-protein tortilla wraps (Cambrooke Foods)
  • 115 gm of bell peppers (cooked weight measurement)
  • 1 tbs canola oil
  • 85 gm of salsa style canned tomatoes
  • ¼ c Daiya cheddar shreds

Directions

To make tortilla chips from the wraps, follow the directions on Cambrooke Foods’ website.  Their recipe calls for six wraps, but for the purpose of this dish, I used two. If you wanted to make a larger serving, you could easily increase the number of wraps.

While the tortilla chips are cooking, sauté the peppers in the canola oil until slightly browned and tender. Since my husband was making his own high-protein version of nachos, he browned his ground beef in a separate dish and planned to split the peppers between the two of us.

Once the chips have been pan-fried and cooled on a paper towel, place them in an oven-safe dish, zero-out their weight on gram scale, and top with 115 grams of peppers. Zero-out the scale again and add 85 grams of the salsa style canned tomatoes. Top the nachos with a ¼ cup of the dairy-free cheddar shreds from Daiya Foods and place in the oven. Broil until the cheese has melted, remove and serve. Careful because the dish will be very hot!

Yield: 1 [adult] serving

Phe: 159 mg

Calories: 497

Feel free to experiment too! Add onions or olives if you like. You can also top the nachos with shredded lettuce, or if you have a bit more tolerance in phe, add a serving of guacamole. The 100-calorie snack-packs from Wholly Guacamole are perfect for one-time servings. Enjoy!

–NM

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PKU patients and caregivers can participate in study for evaluating device linked to PEG-PAL

If you live in the San Francisco Bay-area and either have PKU or care for someone with PKU, there is an opportunity to participate in a paid usability study for a potential medication delivery device.

The device at the center of the usability study would used to administer PEG-PAL, an injectable enzyme substitution developed by BioMarin Pharmaceutical that has shown to lower phe levels in PKU mice. According to the National PKU Alliance, PEG-PAL recently completed Phase 2 FDA clinical studies and all patients enrolled in that phase had experienced some measurable decrease in blood phenylalanine levels. BioMarin is moving forward with the third and final phase that would ultimately bring PEG-PAL to a commercial status, which also explains the recent interest in figuring out just how patients will react to the process of injecting themselves with the drug.

Interface Analysis Associates, the California-based human behavior consultancy firm that has partnered with BioMarin for this study, will offer two 30-minute sessions in early September 2013 and will pay participants $150 to learn how the device works and perform mock injections. There will be no needle pricks and no actual medication administered. Participants will be asked to provide feedback on their experience and preferences.

Usability Study for PKU Patients and Caregivers

Click image to enlarge.

I was asked to participate in the study but because of the 2,500 miles between East Tennessee and the West Coast I had to respectfully decline. Nonetheless, it’s a great opportunity for others in the PKU community to directly impact the design and functionality of how this exciting new treatment will be delivered. It was also smart of BioMarin to initiate this usability study – not just from a bottom-line perspective but also because patients will have an investment in the product, the opportunity to suggest design improvements, and will likely become more satisfied with how it works.

If you’re interested in participating in the study, be sure to sign-up quickly. September is right around the corner!

–NM

P.S. If you do participate in the study, you’ll have to return to PKU Parlor and let us all know how it went! 🙂

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