Tag Archives: PKU and Pregnancy

Home Blood Phe Monitor: A PKU Pregger’s Dream

During the 2014 National PKU Alliance Conference this past summer, an update was given on the development of a home phe monitor, a device that would allow people to check their blood phe levels immediately from home. In this video interview, produced by Kevin Alexander, Dr. Tom Franklin, chair of the National PKU Alliance Scientific Advisory Board, says that after receiving 128 proposals from scientists representing seven different countries, nine were selected in April 2014 for Phase II and were required to submit detailed concepts for the monitor by July 2014.

Unfortunately, a single proposal won’t be selected for moving forward with development of a prototype until December 2015. Even then nothing is guaranteed, but nonetheless, allow me to explain why an at-home phe monitoring device would be my ‘dream come true.’

Many of my readers are aware that I’m pregnant with my first child and as I prepare to hit the 30-week mark this weekend, I’m well beyond the point in my pregnancy when Madison has started to process phe for me. In order to make sure my current phe allotment is still appropriate, I use a lancing device to gather a blood sample every Sunday, allow it to dry overnight and then mail it in Monday morning. Yet, as I write this blog entry, the last phe result I received was on Aug. 19 for a level I took on Aug. 10. For those of you who are counting, that was more than three weeks ago. Neurotic, Type-A-Personality folks like myself can’t help but worry about how much has changed in that time span.

When my blood work leaves my mailbox Monday morning, it’s probably fair to estimate a two-day delivery time with the U.S. Postal Service. So what happens once it reaches its destination to cause it to be delayed so much longer? Well, in my case, the level likely arrives at the hospital warehouse where it is processed for an internal delivery system. In some cases, clinics decide to hold a patient’s level until they have enough in-hand to justify the cost of processing them (most clinics will place a maternal PKU patient on a priority list). And then there’s just plain old human error. Levels are lost, stuck in interdepartmental tube delivery systems and who knows what else!

To be clear, I’m not trying to place blame on any one person or organization. Heck, even I realize that my decision to transfer care to another state also plays a role in this conundrum. The point is there are many reasons why the turnaround for blood phe results moves slower than molasses. No doubt, the ability to use a home phe monitor would vastly improve many lives in the PKU community.

Until that day, I’ll continue to play catch-up with how fast Madison grows and the protein she needs for that development. I’ve decided to overnight delivery of my levels (which, by the way, costs me $20 a pop). I also have started to send them directly to my clinic, bypassing the hospital’s warehouse; ultimately hoping that all of this will help improve the situation.

I’m curious to hear if others in the PKU community have had similar frustrations with the time it takes to get back blood test results. Have you and your clinic come up with other unique ways to improve the process for submitting levels through the mail?

–NM

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Filed under Conferences & Events, Lo-pro Diet Management, Maternal PKU, Research, Technology

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

maternal pku, counting calories, low-protein diet

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:

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

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Filed under Lo-pro Diet Management, Maternal PKU

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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Filed under Maternal PKU

Is taking-on maternal PKU a rational decision?

Some blog followers may have noticed that I have taken a short hiatus from posting content. My absence has in large part been attributed to the fact that I spent the latter part of January, all of February and the beginning of March battling for access to my prescribed PKU formula. Despite having insurance coverage, the durable medical equipment company I had worked with for over a year decided they were losing too much money, cited it as a “reimbursement issue,” and claimed that it was perfectly legal to deny me access to the formula. I spent the next days and weeks attempting to liaison between my employer, my health insurance provider, the formula manufacturer and alternate DME companies. I embarked on an extensive letter-writing campaign and spent many weeks living day-to-day, wondering where my next supply of formula would come from, whether I needed to leave work early to pick up an emergency supply from my local clinic, and so forth.

I go into all of this to belabor my next point, something that has been weighing heavily on my mind: Will I ever feel confident enough to take the next step and transition my “return to diet” into a “preconception diet?” After being off diet for nearly 19 years, I recently returned to the low-protein diet and have been working hard to adhere to its limitations for nearly three months now. For some clinics, that is long enough before women with PKU can conceive. Other clinics recommend six months, but whether the recommendation is three months, six months or an entire year, I do not know that the uncertainty surrounding treatment for maternal PKU will ever improve.

Newborn screening 50 years later: Access issues faced by adults with PKU, Genetics in Medicine, 2013Two recent, yet very different, pieces of literature caught my attention and magnified this dilemma further. The first, which was passed along to me by another PKU advocate Kevin Alexander, is a peer-reviewed, academic journal called Genetics in Medicine. Published by the American College of Medical Genetics and Genomics, the March 2013 issue reviewed the 50th anniversary of the U.S. newborn screening program and looked at the barriers that still prevent access to PKU treatment five decades later. Many barriers were examined including the limited number of adult clinics; the lack of third-party payer coverage; transportation-related issues; and perhaps one of the most commonly ignored barriers, social and mental health support.

Factors identified as affecting access to treatment for phenylketonuria. Source: Newborn screening 50 years later: Access issues faced by adults with PKU, Genetics in Medicine, 2013.

Factors identified as affecting access to treatment for phenylketonuria. Source: Newborn screening 50 years later: Access issues faced by adults with PKU, Genetics in Medicine, 2013, doi:10.1038/gim.2013.10.

The second piece of literature – a blog post by National Public Radio titled “Is having a child a rational decision” – is obviously a much less formal form of literature; however, from a philosophical perspective it examines the reasons why people decide to start a family. The post goes on to say, “Most people don’t decide to start a family after logical and ethical debate; they’re moved (says Belkin): To create a family. To craft a whole greater than yourself, of which you will eternally be a part. To take part in a life from its start to your own finish.”

I guarantee that I am not the only woman with PKU who does feel so moved, to have a part in creating a whole greater than oneself. Unfortunately, women with PKU do not fall within the category of “most people.” The very personal decision of whether or not a woman with PKU will attempt a pregnancy does in fact involve logic and debate. I have experienced many debates…sometimes with friends and family and other times with my self-consciousness. Is a PKU pregnancy is a wise decision, especially given all the unknowns that are seemingly beyond my control?

As a good PKU friend of mine in New York once told me, there are no happy accidents when it comes to maternal PKU. The demands that maternal PKU places on a woman are great indeed. The decision is big. The hurdles along the way will at times seem insurmountable.

Given the current state of the healthcare system and all the barriers that still exist, one almost has to be irrational to finally take the plunge.

–NM

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Filed under Maternal PKU, Research

Finding PKU Inspiration at the Gym

Of all places to find philosophical inspiration for living with PKU, I came across this profound quote while visiting my local gym the other day.

Click on image to enlarge.

Click on image to enlarge.

Charles Swindoll, the author of this quote, is an evangelical pastor who I had never heard of prior to seeing this quote and subsequently Googling his name. Clearly, the owner of my gym was trying to speak to the mental strength it takes to improve one’s physique, but anyone who reads this passage will likely apply it to their own personal situation.

As such, when I read this quote, I immediately think about my struggle to start a family. Growing up with PKU, I’ve always felt – even at a very young age – that successfully having children would be THE biggest accomplishment of my life. That is because I have always had a keen understanding of the great effort and sacrifice it would take to return to a restricted diet. I knew that mental toughness and fortitude would be paramount for getting me through. Yet it wasn’t until recently that I realized a host of external factors – items beyond my control – could also sabotage the success I so greatly desired.

I started to feel that despite any level of confidence I had in my own ability to stay on-diet, I could not embark in a high-risk pregnancy without a top-notch team. I found that some of the same support systems that were put in place to aid in my PKU care were also some of my biggest hurdles. For example, my husband and I were told we should “seriously consider adoption,” because birth defects were pretty much guaranteed. And on a separate occasion, after being accused of “cheating” on my blood work, I  realized some professionals would rather point the finger than consider the possibility that process improvements might be necessary. Clearly, I am having difficulty trusting the experts I will undoubtedly rely on most during a high-risk pregnancy. I’ve struggled with this reality for some time now…even placed a moratorium of sorts on any deliberate move I might make towards returning to a controlled PKU diet. Reading this quote at the gym though has led me to think about my situation with a little more optimism. Rather than saying, “I don’t know where to go from here,” I’m now in the position to say “okay (*deep breath*), let’s think rationally and clearly about our options…there has to be another way.”

Perhaps I need to redefine what I mean by “successfully having children.” Even though the suggestion cut deep on an emotional level, maybe I do need to take a second look at adoption or foster care. Does it matter to me and my husband that our children be a reflection of who we are genetically, or can we learn to love another child who is in need a good home? Or maybe thinking rationally means recognizing that we’ll become parents when the time is right. Even when it seems co-workers, friends and family members are all starting families, perhaps our turn is just around the corner…when some other opportunity arises.

Reading Swindoll’s quote hasn’t exactly changed my life or provided me with all the answers, but it does help put things into perspective. I’m not going to settle for a less-than-desirable situation or passively accept the way things are. Instead, I must use my drive…my attitude…to find another way.

–NM

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Caring for Maternal PKU: Part III

Welcome to the third and final post in the Caring for Maternal PKU series. In Part I, readers were introduced to the research Kimberly R. Regis RN, MS, CPNP, conducted in support of her Doctorate of Nursing Practice final project at The Ohio State University. The objective of Regis’ research was to “describe the care needs and preferences of adult women of childbearing-age with PKU” by going directly to the women and asking about their experiences. In Part II of the series, we learned that despite being well-informed about the risks associated with maternal PKU, the group of women Regis interviewed had a relatively low combined pregnancy success rate. In an effort to see what factors—in addition to knowledge level—might be at play, Regis explored maternal PKU support systems by asking her participants the following questions:

  • What support systems do participants have that either help or hinder adherence to dietary management?
  • From the participants’ perspectives, what can be done to improve support for ongoing dietary management within the clinic service?

Maternal PKU, Pregnancy and PKU, PKU, PhenylketonuriaFor all of the women who participated in Regis’ study, family members were identified as being the greatest source of support. Mothers in particular were mentioned not only as a supporter but also as an individual who truly understood and empathized with what it was like to struggle with the low-protein diet. Other examples of how family members provided support included finding new recipes to cook or share with the PKU patient, or even in some cases, helping to pay for costly medical foods.

With regard to the support participants received from clinics, most felt that clinicians were friendly and supportive, but some concerns still existed. For example, some participants felt like information about new foods and treatment was only provided if the patient asked about it. Clinic staff did not always provide individualized advice and overall communication from the clinic occurred less frequently overtime.

Right now I’m still just in the monthly stages of taking my level every month, and that’s pretty much all that I hear from my nurse. And I never really hear from my dietician other than when I call her to order formula.”

The reality is that most PKU clinics are spread-thin and overworked because of having to respond to more than just PKU patients. But developing specialized care for maternal PKU is significantly more complicated than just refreshing clinical best practices. That’s because as Regis acknowledged, treatment for PKU has evolved over the years, allowing for more PKU patients to live longer and engage in “traditional” lifestyle activities such as pursuing advanced college degrees and starting families. Unfortunately, despite the need for individualized care, many PKU adults are still seeking treatment at a pediatric-focused facility such as Children’s Hospital. To be fair, participants within Regis’ study did not explicitly express concerns about receiving care from a pediatric institution; however, there was strong agreement on the need for more support beyond education.

What would this additional support look like? Regis suggests that social work, mental health and gynecological services may all be applicable for advancing the care of maternal PKU. No matter what the medical treatment of PKU will look like in the years to come, it must evolve to include geneticists, dieticians and nursing practitioners who understand and specialize in maternal PKU. Perhaps Regis herself said it best when she recognized women of childbearing age with PKU as being a “distinct population with the shared risk of having offspring with disabilities as a result of their genetic disorder.”

A distinct population – even one that is a subset of a group defined by a rare genetic disorder – should translate into individual, specialized care.

–NM

Caring for Maternal PKU: Part I

Caring for Maternal PKU: Part II

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Filed under Lo-pro Diet Management, Maternal PKU, Research

Caring for Maternal PKU: Part II

Maternal PKU, Phenylketonuria, Maternal PKU Knowledge Test

For the second installment in the Caring for Maternal PKU series, let’s take a closer look at the knowledge factors incorporated into the participant interviewee questions for Kimberly R. Regis’ Doctor of Nursing Practice final project, Childbearing age women with PKU: Assessment of care needs and preferences. In Part I of the series, questions four and five asked:

4. What is the knowledge level of the participants regarding PKU and maternal PKU?

5. How does knowledge level regarding PKU impact decisions regarding birth-control and family planning?

Why would Regis focus on the knowledge level of the adult women with PKU? For the last two decades, PKU research has focused in large part on emphasizing the need to educate adult women with PKU so they could better self-manage their condition and prevent the occurrence of maternal PKU syndrome. Regis wanted to “gain a better understanding of the ways in which a children’s hospital-based metabolic specialty clinic may best serve them [adult PKU women of childbearing age].” Was the answer that clinics should continue to serve maternal PKU patients by following conventional research, which emphasized the importance of ongoing education? Or was there a need for something more?

To explore these options, Regis started with the knowledge variable and had the six participants take the Maternal PKU Knowledge Test, a 10-question quiz that was developed in 1990 by Shiloh, St. James and Waisbren. The three authors recommended the test as a way for clinics to screen and identify adult women with PKU who might benefit from more education.

The study’s participants answered a majority of the questions correctly, with scores ranging from seven to 10 correct. The question that elicited the most trouble when trying to answer was number seven (you can see a complete list of questions and take the test for yourself by visiting the Maternal PKU Knowledge Test page on PKU Parlor). A common theme that emerged from the open-ended questions was that participants felt they received vague and oversimplified information, which lacked details for explaining the science behind why a developing fetus could be harmed by poor dietary control. One participant stated she had never been taught about maternal PKU saying, “I don’t even remember having the conversation.”

With regard to how the participants’ knowledge level may have impacted their family planning decisions, all of the participants reported that PKU strongly influenced their decision about whether or not to have children. Regis noted that one participant commented that she was afraid to have children because of the possible outcomes, while another participant who originally wanted a large family said that concerns over the PKU diet changed the number of children they would ultimately plan for.

“I never thought growing up that I could never had kids. I always had the big family in my head—five kids, four kids.”

Observations within the study also revealed that even though there were 12 pregnancies among the six participants, only four resulted in live births. So one begs to ask the question: If these six women were relatively well-informed about the risks associated with maternal PKU…AND if knowledge of those risks, as well as ways to minimize those risks, impacted the decisions these women made with regard to family planning, then what else could be the reason behind such a low pregnancy success rate?

Stay tuned for the concluding post in this three-part series on Caring for Maternal PKU. Assuming that education alone may not be enough to improve pregnancy success rates among adult PKU women, Part III will take a look at the support systems available to the participants in Regis’ study.

–NM

Caring for Maternal PKU: Part I

Caring for Maternal PKU: Part III

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Filed under Lo-pro Diet Management, Maternal PKU, Research