Tag Archives: Phenylketonuria

A baby girl is on her way!

That’s right. My husband and I are expecting a baby girl later this fall and at 24 weeks we’ve already given her the name Madison Grace!

Her announcement on PKU Parlor might help explain why I haven’t posted in a while. Finding out I am pregnant has been both overwhelming and wonderful at the same time. The editor in me wanted Madison’s announcement to be partnered along with some insightful advice for my blog readers, but to be honest, I’ve never felt as such a “newbie” towards anything else in my entire life. While working through all the normal questions and concerns that most women have with their first pregnancy (visiting day care facilities, finding a pediatrician, planning maternity leave, etc.), I’m also working through what it means to be expecting with PKU.

Me – sporting an 18-week baby bump – and my husband Brandon on June 14, 2014.

Me – sporting an 18-week baby bump – and my husband Brandon on June 14, 2014.

Longtime blog readers may recall after returning to the low-protein PKU diet in January 2013, I began a long journey filled with a variety of hurdles including the inability to keep consistent insurance coverage for my formula, the emotional impact of a dramatic hair loss, and the hunt for a medical team that was experienced and refreshingly optimistic about tackling maternal PKU.

And yet once I felt that all the pieces had fallen into place, conception was not something that happened instantaneously. Negative pregnancy test after negative pregnancy test eventually began to take a toll and I started to wonder if becoming a mom would ever happen.

Despite my skepticism, I was surprised to learn I was pregnant during a routine OB visit this past April. And when my first ultrasound determined I was more than 10 weeks along, I was even more surprised to learn I had nearly missed-out on my first trimester! …Certainly a perfect example for why returning to the diet prior to conception is so important.

In the weeks leading up to finding out the good news, my PKU clinic and I had been trying to figure out why my levels appeared to be gradually increasing despite no change in my daily phe intake (in hindsight, it was likely because my body was working hard undergoing massive changes to make a baby). As soon as I reported the pregnancy back to my clinic, the decision was made to drop my phe by 50 mg to 500 mg/day (or 10 gm of protein) and increase calories to a minimum of 2,300/day (more for those days when I exercised). Sure enough, the adjustments quickly brought my levels back down.

It is hard to believe it’s been 14 weeks since I first found out I was pregnant. I grin from ear-to-ear every time I feel Madison kick. Her acrobatic stunts are a constant reminder that all this hard work is so worth it!

In the coming days and weeks, I’ll share more of my experience as well as other PKU recipes and tidbits. I hope you’ll continue to stop by!

–NM

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On the hunt for aspartame-free gum

aspartame gum, sugar-free gum

Growing up on the low-protein PKU diet, I was well aware to stay clear of chewing gum that contained aspartame (also marketed under brand names AminoSweet ®, Equal®, NutraSweet® and NatraTaste®). I had a ‘safe list,’ if you will, of all the brands I could choose from, but after searching through all my familiar fav’s on a recent visit to the grocery store, it appears that nowadays you cannot find a single pack of gum that doesn’t contain aspartame.

Discovered in 1965 and later approved as a food additive by the FDA in 1981, aspartame is used in chewing gum to provide a long-lasting sweet sensation since other ingredients such as sugar, dextrose, and corn syrup dissolve soon after chewing begins. Chemically, aspartame is comprised of a small amount of methanol and the two amino acids aspartic acid and phenylalanine – the last of which we know is very harmful to PKU patients.

According to www.aspartame.org, aspartame is currently found in more than 6,000 products worldwide including soft drinks, confections, gelatins, dessert mixes, puddings and fillings, frozen desserts, yogurt, tabletop sweeteners, and some pharmaceuticals such as vitamins and sugar-free cough drops. That’s a lot of products for PKU patients to be wary of!

Thankfully, with the growing popularity of all-natural products, there’s a new selection of chewing gums hitting the market featuring xylitol, an all-natural sugar alcohol. Also, since xylitol is an anti-microbial, it helps prevent tooth decay and provide a quick breath-freshener, especially after just chugging a serving of PKU formula.

Here’s a look at some of the aspartame-free gum currently on the market. Since they’re still rather new, finding these in common grocery and drug stores is difficult, but I’ve been able to buy some online, specifically through Amazon. Depending on where you live, you may also be able to find these products at specialty grocery stores like Whole Foods Market, Trader Joe’s, Jungle Jim’s or Earth Fare.

aspartame-free gum, PKU-friendly gum

Click to enlarge image.

  • Pür Gum
  • XyloBurst Xylitol Gum
  • Epic Xylitol Gum
  • Peppersmith Chewing Gum
  • Sugar-Free Glee Gum

If you’ve tried any of these aspartame-free gum products – or have others to add to the list – just let me know in the comments section below.

–NM

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Filed under Lo-pro Diet Management, Product Reviews

At-a-glance PKU Pantry Labels

At-a-glance PKU Pantry Labels

One of my recent Pinterest-inspired projects was creating burlap labels for my pantry. It’s a fun DIY project that spoke to my inner organizing freak.

Grouping similar products in baskets or other containers make it easier to find products quickly and placing ingredients in clear jars let you know when you’re getting low. Among other labels, I decided to create hanging canister labels for brown sugar, wheat starch and baking mix—three ingredients I use frequently, especially when making tasty PKU-friendly cakes, cookies and pastries.

At-a-glance PKU Pantry LabelsI use Cook for Love’s baking mix, which if you’re familiar with it, you know it is comprised of three key ingredients. To make life a little simpler, I decided to make an at-a-glance label on the backside of the baking mix canister that reminds me of the key ingredients without having to look it up online or find the recipe I printed eons ago. Also to save time, I like to make the baking mix in bulk. In fact, I have doubled the baking mix recipe in the canister shown here.

If you aren’t necessarily the crafty type, you can still take a similar approach by a using a large, sealable plastic container to make the baking mix and a permanent marker to jot down the ingredients on the outside of the container. Not as pretty, but definitely just as functional. Just remember to whisk before each use!

–NM

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

Changing the name of PKU, PKU name change, from PKU to PAH deficiency

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

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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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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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PKU-Friendly Sweet Potato Casserole with Bananas

PKU-Friendly Sweet Potato Casserole

This recipe is an adaptation of one I recently saw demonstrated on one of our local weekend morning news shows. Using roasted bananas provides a natural sweetener and also adds fiber and potassium into the PKU diet. With a few slight changes to the ingredients and some gram-scale measurements, I was also able to figure out the amount of phe per serving. In addition to being an awesomely flavorful comfort food perfect for the approaching holiday season, this recipe yields enough servings to feed the entire family. Here’s how you make it:

Ingredients

  • 6 pounds (about 6) sweet potatoes
    (approximately 1,480 grams when measured after being mashed)
  • 2 ripe bananas, skins on
  • 1/2 stick unsalted butter, softened
  • 1/2 cup Michele’s Butter Pecan Syrup
  • 2 tablespoons ground cinnamon
  • 2 teaspoons pumpkin pie spice
  • 1/2 teaspoon salt
  • 2 cups of miniature marshmallows
  • 2 tablespoons of brown sugar

Directions

Preheat oven to 425 degrees F.
Peel the sweet potatoes, cut into large chunks and boil until soft (try piercing with a fork to determine when done).

PKU-Friendly Sweet Potato Casserole

Meanwhile, roast the bananas, with the skins on, for 15 minutes. Transfer potatoes to a large mixing bowl and pulse with a hand mixer until whipped. When the bananas are cool enough to handle, slice the end opposite from the stem with a sharp knife.

PKU-Friendly Sweet Potato Casserole

While holding the bananas from the stem, squeeze the contents into the bowl of mashed sweet potatoes. Add the butter and maple syrup, mix until smooth. Add the cinnamon, pumpkin pie spice and salt; mix to combine. Transfer to a shallow baking pan and smooth out the surface with a spatula. Top potato-banana mixture with marshmallows and evenly sprinkled brown sugar. Bake at 300 degrees F until heated through, about 20 minutes. For the last minute or so of baking time, switch your oven to broil for that campfire roasted marshmallow consistency.

Couple of things to note: I selected Michele’s Butter Pecan Syrup for two reasons: 1.) it is completely phe free and 2.) I really wanted to add butter-roasted pecans, but as we all know, that’s a PKU no-no. If you decide to use a different brand of syrup, be sure to adjust the phe as needed. Also, feel free to have fun with the toppings. Instead of marshmallows, you may want to try raisins for a healthier option.

Yield: 8 servings
Phe: Entire recipe = 1,340 mg; 167.5 mg/serving
Calories: Entire recipe = 2,616 calories; 327 calories/serving
* Simply divide the casserole into 10 servings for fewer mg of phe/serving.

–NM

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Creating a kitchen tablet holder for PKU recipes

According to the Pew Internet & American Life Project, a third of American adults ages 18 and older own a tablet computer like an iPad, Samsung Galaxy Tab, Google Nexus or Kindle Fire. That’s almost twice as many from one year ago. Chances are, folks in the PKU community are no exception to this growing trend. In fact, I tend to use my own tablet for referring to recipes as opposed to the traditional printed cookbooks. That’s where the inspiration for this DIY project came from. Here’s how you can also make your own kitchen tablet holder for PKU recipes.

DIY kitchen tablet holder for PKU recipes

First, I found an old cutting board from a thrift store for $1.50. Then I purchased a Scrabble tile holder from a local antiques and collectables store for $5. For a little embellishment, I found unfinished wooden letters from JoAnn Fabrics (although you could also find something similar at other hobby stores such as Michaels and Hobby Lobby). Lastly, you need a wooden wedge of sorts. My brother-in-law, who is handy with a power saw, made mine, but a child’s wooden block would also work. unfinished pics-croppedUse wood glue to assemble the pieces, allow to dry over night, and cover with your favorite paint color. I decided to use a slightly darker shade for the “Create” letters so that it would pop a little.

DIY kitchen tablet holder for PKU recipesEnjoy!

–NM

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Hair Loss experienced by PKU patients returning to the low-protein diet is temporary

There is some good news to report back to my blog followers: hair loss related to a return to the low-protein diet is temporary.

Earlier this month, I published a post titled Losing it: Both literally and figuratively over PKU and hair loss and during that post, I mentioned that PKU patients experiencing significant hair loss after returning to the PKU diet may want to see a specialist for insight behind the cause. I decided to take my own advice and scheduled an appointment with a dermatologist (I was referred to a dermatologist because of the profession’s specialization in matters related to the epidermis, or skin).

The dermatologist diagnosed my hair loss as telogen effluvium, or excessive hair shedding. She proceeded to describe to me a common cause of telogen effluvium where a major life stressor—say a car accident, pregnancy or even a crash diet—causes the hair follicles to stop growing. It is very similar to what was described to my clinic by another dietician. The dermatologist then sketched out a rough timeline on the paper covering the examination table and here below, I have tried to recreate it.

PKU Hair Loss Telogen effluvium

Click image to enlarge.

To summarize this graphic, the progression of my own hair loss coincided with what is commonly seen in cases of telogen effluvium. The initial shock to the system was my sudden return to the low-protein diet, and as a result, my hair follicles entered a resting phase. Generally speaking, the hair loss becomes noticeable about one to two months after the initial stressor when the new hair growth pushes out the resting hair.

Thankfully, this means that PKU patients who experience hair loss after returning to the PKU diet will eventually grow back their hair. In my case, I can already see “baby hairs” peeking through my hairline. Unfortunately, my dermatologist estimates it will take approximately two years before those baby hairs are long enough to tie back into a ponytail. In the meantime, I’ll embrace the heck out of some hairspray! :-)

–NM

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How to conduct an at-home blood test for PKU

Regularly monitoring blood phenylalanine (phe) levels is a critical element to the treatment of PKU. The frequency of collecting samples will vary depending on age, clinic preference and the PKU patient’s current health status. For example, maternal PKU patients may collect samples as many as twice a week. It is important to discuss with your clinic how often you should send in blood tests, but should you ever need a quick-reference guide for conducting an at-home blood test, here are a few tips.

Organizing PKU Blood Level Supplies

General Tips:

  • In order to reduce the amount of time it takes to perform a blood level, organize supplies in clear containers. This also lets you know when supplies are running low.
  • Fast for at least two hours, no more than six, before taking a blood level.
  • Chose a different puncture site each time in order to avoid scar tissue or oversensitivity to the puncture-area.
  • Fill at least three circles within the filter paper. I will usually fill all five, just to provide my clinic with several specimen options.

Blood Test Prep:

  • Use a heating pad or hand warmer for about 10 minutes to increase blood flow. Running your hand under hot water may also do the trick.
  • Fill out filter paper with your personal information.
  • Gather supplies needed for single-time use.

10 Easy Steps:

  1. Clean fingertip (or heel if performing the test on an infant) with alcohol wipe. If you do not have an alcohol wipe, wash hands with soap and warm water.
  2. Open Band-Aid from its packaging for easy access after test is complete.
  3. Position the lancet on the side of your finger.
  4. Press the lancet firmly on your skin at the puncture site.
  5. Turn the hand over and let a drop of blood form on your fingertip.
  6. Fill filter paper circles with blood by allowing the drop to freely fall onto the paper (without touching) and while being careful not to overlap drops.
  7. Wrap Band-Aid over the puncture-area.
  8. Discard used lancet in a biohazard sharps container. If you do not have a biohazard sharps container, you can also collect used lancets in a Ziploc plastic bag and bring those to your clinic for safe disposal.
  9. Allow the filter paper to dry overnight, although if you are under a deadline, 2-3 hours will suffice.
  10. Seal the filter paper in an envelope and mail to your clinic (don’t forget the stamp).

For other references and tips for performing at-home blood tests, the National PKU Alliance’s PKU Binder has an entire section focused on Monitoring Blood Phenylalanine Levels and BioMarin has 12-page, electronic brochure describing How to Take Your Blood Phe Levels at Home.

–NM

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