Tag Archives: maternal PKU

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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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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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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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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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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National PKU Awareness Day: My Wish List for the Future of PKU

National PKU Awareness Day, December 3, Phenylketonuria, National PKU Alliance

We have all heard about specific days, weeks and even months that are set aside in recognition of something special. Today – December 3, 2012 – is the first-ever National PKU Awareness Day. What does that mean for the PKU community?

Here are a couple things to know first about these special time periods of distinction. In the marketing realm, there’s a difference between national days and national awareness days. National days are typically reserved for organizations lobbying for commercial interests such as National Mutt Day on Dec. 2 which reminds potential dog owners to adopt mixed-breed pets. National awareness days, on the other hand, are used to identify health-related issues; some of the more well-known health awareness campaigns being in support of breast cancer and heart disease.

As a rare genetic disorder with no cure, PKU certainly falls within the national-awareness-day category. Receiving a national awareness day distinction for PKU required the support of the U.S. Senate, which unanimously passed the resolution on Sept. 19, 2012. Senators Johnny Isakson (R-Ga.) and John Kerry (D-Mass.) co-sponsored the resolution, and the National PKU Alliance, a coalition of local, state and regional organizations supporting PKU families, undoubtedly played an integral role assisting the two senators as they sought buy-in from their senatorial colleagues.

Receiving national recognition for PKU is rather moving and amidst all the excitement, I couldn’t help but daydream just what this elevated, national platform could mean for PKU. Call this a PKU National Awareness Day Wish List if you like, but here are just a few things I hope will change over the coming years with more attention brought to this issue:

  • More scientists will know of and perhaps be inspired to study phenylketonuria.
  • More funding may be allocated for academic research in support of PKU.
  • Policy decision makers in Washington D.C. will better understand the importance of mandatory newborn screening and may eventually pass the Medical Foods Equity Act.
  • Insurance coverage will increase at both the national and state levels.
  • Any confusion that the PKU “diet” is cosmetic and applies to weight-loss will be eliminated.
  • PKU clinics across the nation will improve thanks to shared best practices and individualized patient care.
  • We may someday gain a better understanding for the differing degrees of severity found in PKU.
  • The list of pharmaceutical drug therapies that are available for the treatment of PKU may increase.
  • We could also see a greater variety of low-protein foods made available to patients…maybe some even available in common grocery stores.
  • PKU patients and their families will experience a greater sense of community.
  • We may improve upon the resources made available to women facing maternal PKU…and ultimately increase the number of successful pregnancies.
  • PKU will have a greater, national identity; one that “adds a face” to what is otherwise an obscure genetic disorder.

I do not think it’s at a stretch to assume that through all of these “blue-sky” goals, National PKU Awareness Day could one day lead to a cure. With that in mind, what other items would you add to this wish list?

–NM

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