On October 19, 2014, Brandon and I welcomed our daughter Madison Grace into our lives. Referred to many times over by our nursing team as “nothing but a peanut,” Miss Maddie weighed 5 pounds, 9 ounces and measured 18 1/2 inches when she was born at 4:41 p.m.
In addition to a full head of hair, Madison has the most kissable cheeks and loves to curl up with her hands near her face – pretty much the position we found her in during every ultrasound.
I’m off to snuggle more with this tiny person who has already stole my heart. I promise to share more soon. In the meantime, thank you for allowing me to share this journey with you and sharing with our excitement!
Fall has arrived and lately I’ve been craving butternut squash. To satisfy that craving, I tried my hand at a new soup this past weekend that incorporated both a hearty butternut squash and a couple sweet potatoes. Combined, the two vegetables make a high-vitamin, fiber-dense dish that’s also very tasty!
Ingredients:
1 large butternut squash (1,050 gm. cooked weight*)
146 gm. yellow onion, chopped
9 gm. (1 ½ tsp.) of minced garlic
2 tbs. of butter
709 gm. sweet potatoes/yams, peeled and cut into chunks
Cut the butternut squash in half; seed it and place skin-side down on a cookie sheet
Bake squash for 60 minutes
When squash has approximately 15-20 minutes left to bake, melt butter in large stockpot
Add onion, garlic and sweet potatoes; cook on medium-high stirring frequently
Remove squash, allow to cool before removing skin and hard stems
*This is when I measured the butternut squash, which explains the “cooked” weight listed above.
Add squash and broth to stockpot, bring to a boil
Cover, reduce heat to low and simmer for 40 minutes
Using a ladle or slotted spoon, transfer portions of soup to a food processor and blend until smooth before adding back to the pot; repeat 2-3 times depending on your preference for chunkiness
Yield: Approximately six 1 ½ cup servings (365 gm. each) Phe: 196 mg. Calories: 210
Since I’m 34 weeks pregnant and already incorporating greater amounts of phe into my diet, this recipe was purposely made with the intention of being slightly higher in phe. However, you can easily adapt this recipe for a version that is lower in phe by using a 32 oz. package of Swanson’s Certified Organic Vegetable Broth instead of the chicken broth. The adjusted nutritional values would be 170 mg. and 210 calories per 1 ½ cup serving.
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 sampleevery 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?
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.
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.
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!
That’s the question I asked after watching a TED Talk from Stephen Friend, co-founder of Sage Bionetworks. During the presentation, Friend describes an ambitious initiative called the Resilience Project: A Search for Unexpected Heroes, which flips traditional scientific research on its head by suggesting that rather than studying those people who are already sick, we should be studying those people science tells us would be sick with a rare disease, but for some reason have remained healthy.
The premise of the talk, titled The hunt for “unexpected genetic heroes,” asks whether having a closer look at the protective mutations of these “resilient” individuals would provide a pathway for developing new treatments or preventing diseases all together. Here’s the full video presentation:
Naturally, upon finishing the video, I immediately thought the Resilience Project might have some relevance to PKU research. That’s because there are a few, rare cases in the PKU community of individuals who are high-functioning, off-diet phenylketonuria patients, meaning that despite having what is medically considered to be dangerously high phenylalanine levels, these folks are still able to function with a high-level of intellect and lead normal, productive lives.
Friend’s TED Talk ends with a call to action—for individuals to become engaged by voluntarily submitting their DNA to the project—but there was little detail on how to go about doing so. After finding the Resilience Project’s website, and scrolling through much of its content, I was pleasantly surprised to learn that phenylketonuria (PAH) is one of the 195 metabolic gene disorders the group is looking to study. Pretty cool, huh?
After becoming disconnected from the PKU community for the 18 years that I was off-diet, I never did understand why I seemed to function just fine. But as I started to delve back into the world of PKU in 2008, I quickly started to hear in various circles about a mutation theory called the blood-brain barrier. Virginia Schuett’s PKU News has a good description for explaining the blood-brain barrier’s role in why some PKU patients are less affected by high-phe levels than others.
“There is the occasional individual with PKU, who despite poor control of the diet and chronic marked elevations of blood phe seems to escape any significant neurological impairment. It is suspected that such individuals may be protected at the level of the “blood-brain barrier.” The blood-brain barrier serves to protect the brain from exposure to potentially toxic chemicals in the bloodstream.”
Although I cannot confirm that the blood-brain barrier mutation is what the folks at the Resilience Project are specifically studying with regard to PKU, I would not be surprised if it was at least on their radar.
The Resilience Project defines an “unexpected hero” as someone who “has reached the age of 40–by which time a genetic disease known to emerge in childhood should have manifested–but who does not bear the symptoms of disease.” I’m not yet 40, but I’m seriously considering trying to participate in the project nonetheless.
What are your thoughts on the matter? Would you willingly participate given the chance of new treatments or even a cure for PKU? Or does the thought of submitting your DNA have your internal privacy alarms sounding off? Either way, I’d be interested in hearing your thoughts. And if anyone from the PKU medical community is reading this post, please also chime in!
–NM
P.S. The 2008 PKU News article referenced above discussed the blood-brain barrier in the context of an emerging therapy called Large Neutral Amino Acids, or LNAAs. The 2014 National PKU Alliance Conference in Salt Lake City July 10-13 includes a session presented by Dr. Eddy A. van der Zee from the University of Groningen who has received a NPKUA research grant to study LNAA Supplementation in PKU Mice.
This is an adaptation of a recipe that was recently served to my entire family over the Memorial Day weekend. It originally included smoked sausage, but that was obviously omitted for my portion. I liked its flavor so much I made it again last night (and probably will again this evening).
Ingredients:
116 gm zucchini, cubed
74 gm bell pepper, cubed (used approximately ½ red pepper and ½ yellow pepper for color)
Preheat your oven to 375ºF. Mix all of the vegetables, garlic, olive oil, salt and pepper well in a large mixing bowl. Spread the vegetable mixture evenly on a large sheet pan.
Roast the vegetables on the middle oven rack for 10 minutes. Stir vegetables and place back on the middle oven rack for another 10 minutes. Meanwhile, cook the pasta according to the package directions, reserving ½ cup of the cooking liquid.
* Since the pasta will be cooked again briefly with the roasted vegetables and other ingredients added, you may want to cut off a few minutes of the recommended cooking time in order to avoid mushy noodles.
Remove the vegetables and set the pan aside. Remove the roasted garlic cloves from the roasting pan, smash to a paste with a fork and add to the reserved pasta cooking liquid. Return the pasta to the pot it was cooked in over medium-high heat. Add the butter, wine, reserved cooking water and vegetables to the pasta. Stir the pasta gently and cook until the liquid is about ¾ absorbed. Serve immediately, adding more salt and pepper if needed.
I’m listing this as one serving; however, if you’re making this for kids with limited appetites, you could probably stretch this a bit further. I’ve also listed separate phe and calorie counts in case you’d like to use a different kind of low-protein pasta or even experiment with imitation rice.
Yield: 1 serving (adult size) Phe: 181 mg (155.5 mg without Penne) Calories: 884 (or 554 without Penne)
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.
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.
The trees are turning green, flowers are in bloom and the birds have started singing again. Here in the South spring has sprung and that also means that lots of planning is underway for the Tennessee PKU Foundation’s two spring fundraisers–a walk for PKU in Nashville on May 3 and another taking place in Knoxville on May 17.
As they have done in years past, these two walks—as well as a third organized for Memphis, Tenn., later in the fall—are organized to raise money in support of PKU research. Since its inception, the Tennessee PKU Foundation has raised more than $63,400 for individual researchers and those supported through the National PKU Alliance. Other funds raised by the foundation stay within the state to support camp and conference scholarships as well as newborn welcome packets.
On a national level, the National PKU Alliance’s Scientific Advisory Committee—comprised of physicians, researchers and clinicians—reviews proposals submitted by researchers who are working in the inherited metabolic disease field and awards grants to those committed to advancing PKU treatments and ultimately developing a cure. Those researchers receiving grants from the National PKU Alliance in 2014 were just recently announced. You can read the full list of recipients on the nonprofit’s website, but two examples include Dr. Shawn Christ, associate professor of psychological sciences and associate director of the University of Missouri’s Brain Imaging Center, and Dr. Kristen Skvorak from the University of Pittsburgh Medical Center. Christ is examining the effects of PKU on gray matter structures in the brain, and Skvorak has been pursing ground-breaking experiments in liver cell transplants for PKU in a mouse model.
Several other U.S. states are also member organizations of the National PKU Alliance and if there’s one nearby your home, I encourage you to support them in their own individual fundraising efforts. However, if you do not have an affiliation with any of these groups but still feel so moved to also support PKU research, you can contribute online via the Tennessee PKU Foundation’s walk registration website. Even if you cannot attend one of these events in person, you can still play a role in supporting PKU research.
PKU Parlor 