Tag Archives: Phenylalanine

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

Advertisements

Leave a comment

Filed under Lo-pro Diet Management

Planning a PKU Menu

I’ve said this before on PKU Parlor, but the ability to plan and organize is going to be instrumental for me adhering to the low-protein diet. And if you know me, then you know I have affinity for being obsessed with organization.

Allow me to introduce my new chalkboard wall…or as mother referred to it, my command center. 🙂

Menu-Board

After 10 coats of magnetic primer and two quarts of chalkboard paint, I have successfully turned one wall of my laundry room into a customizable reminder/menu board.

You may recall that in my last post, I briefly mentioned that I intended to plan-out my menu a week at a time. As you can see here, after I completed my grocery shopping, I jotted down the menu items on this chalkboard wall as a way to remind myself of any items left for eating as I get further into the workweek. At the end of the week, I erase the items and start all over again. The left-hand side of the board has a special section reserved for reminders, both PKU-related and non-PKU related.

Now it’s worth noting that planning a low-protein menu a week at a time can be challenging. Among other items, it demands a ton of fresh produce and an arsenal of spices for livening up what otherwise might be considered bland, low-protein foods. Since I don’t want to lose track of all the hard work put towards menu planning, I also plan on creating an electronic database of meal plans. I haven’t created the database yet, but when I do, I’ll likely create it using Microsoft Excel and include columns noting phe amounts and whether the recipe calls for low-protein products. The last of these discriminators will prove valuable for those moments when I find myself running low on low-protein foods and need to get through the coming week eating whatever is available in local grocery stores.

As I conclude this post, allow me to reflect on what today marks one week since first cutting out all high-protein food items in my diet. I agree that I feel better. That’s hard for me to admit since I prided myself for so long as someone who could eat whatever and still function at a high level. One of the harder things for me to do mentally is to stop counting calories and start to worry more about protein. I realize that eating low-protein won’t always align with low-calorie so I’m having a bit of a struggle letting go of that.

Until next time!

–NM

8 Comments

Filed under Lo-pro Diet Management

Returning to the PKU Diet—Easy Does It!

Going from a completely liberated diet to one that consists of limited protein intake can be rather intimidating when you look at it from a 25,000-foot view. However, breaking-up the task in small chunks and tackling the goal with baby steps can make all the difference between success and failure.

That’s the approach I’m taking after recently deciding to give the low-protein diet a try. I first started this effort last week by committing to taking my formula four times a day. I didn’t worry about altering my diet any; just made sure that I had 60 grams of protein via formula and see how that goes.

Use the RxmindMe app to set reminders on your phone to take your formula.

Use the RxmindMe app to set reminders on your phone to take your formula.

For me, getting all the formula in was not a problem. I would take one with breakfast, the second at 10 a.m., a third near the end of the workday before heading to the gym, and the final before heading to bed. I even set reminders on my phone using RxmindMe and on my Outlook Calendar just in case I got caught-up with work and forgot to take a break for drinking my formula.

After about the third day of doing this, I started to get really strong headaches, especially right after waking up in the morning. At first, I attributed them to stress at work, but when they persisted even on into the weekend, I figured there might be something else at play. Eventually, I concluded that by not altering my diet, but still consuming 60 grams of protein through formula, I was in essence consuming twice as much protein as a non-PKU person would normally eat.

First time making Cook for Love's low-protein bread! The 2nd loaf (on the right) definitely came out better.

First time making Cook for Love’s low-protein bread! The 2nd loaf (on the right) definitely came out better.

The next step in my goal of returning to the low-protein diet was to cut-out all meat. Given the persistent headaches though, I decided to ramp-up my progress. I decided to try my hand at making Cook for Love’s sandwich bread—in fact, I made two loaves and have frozen the second for eating later. I also started incorporating a few low-protein modified foods such as Aproten pasta and Cambrooke’s rice. That being said, I went from eating 60-90 grams of protein to just 15 grams as of yesterday. And the best part? No headaches when I woke this morning!

I realize the real trick will be to continue this progress in the long term, but again, to keep from getting overwhelmed, you have to take it one day at a time. Today, I am going to work on building out my menu for the entire week. I’ll pick out some new recipes, search some free foods through Virginia Schuett’s Low Protein Food List and go from there. As I try new things or find tips to share, I’ll regularly post those here. Of course, if you have any to share, please feel free to do so in the comments section below.

–NM

14 Comments

Filed under Formula, Lo-pro Diet Management

PKU Letter Campaign to HHS Makes an Impact!

There’s some good news to report in the PKU community: the Health and Human Services letter writing campaign–initiated by the National PKU Alliance aimed at ensuring that every state’s essential health benefits plan provides coverage for medical foods–has made a difference. This article, originally published in Congressional Quarterly’s Healthbeat News on Dec. 21, 2012, provides more details about how those comments have been received.

 Patients Bombard HHS With Pleas on Essential Benefits Packages
By Jane Norman, CQ HealthBeat Associate Editor

Congressional Quarterly HealthBeatParents of children with rare diseases, advocates of acupuncture and other individuals are beginning to flood the Department of Health and Human Services with pleas and complaints about which specific services should be included in states’ essential health benefits packages.

Public comments on a proposed rule on essential health benefits aren’t due until Dec. 26, but more than 1,000 responses already have been received, according to the government website where the reactions are posted. Nearly all the comments so far are from individuals rather than organized groups or health business interests, though those groups also are starting to weigh in.

The letters from worried patients, doctors and family members across the country are an indication of the intense interest not just within the health industry but also among members of the general public – many with diseases or chronic conditions – in the outcome of decisions on benefit packages, which will vary from state to state and have a major impact on some people’s lives.

More than 11,000 comments had been filed in response to a bulletin issued on benefits before the rule was unveiled a month ago.

Some writing in are also asking for more time for comments to be gathered, saying that 30 days stretching over the holiday season isn’t enough time for people to digest a 119-page proposed rule and offer input on what should be changed. “Thirty days during the holiday is poor timing,” said an anonymous comment that suggested 90 days instead.

On Nov. 20, the Centers for Medicare and Medicaid Services released its proposed rule (See related story CQ HealthBeat, Nov. 20, 2012) establishing the essential health benefits required under the health care law (PL 111-148, PL 111-152). Non-grandfathered health plans offered inside and outside exchanges must, under the law, include benefits in 10 broad categories of services. State officials are supposed to pick a benchmark plan in their state as a model. HHS included some additional specific details on benefits in its proposed rule, but many commenters want more.

Don Hossler, who didn’t list an address, said in a comment that the federal government should have required that states get public input before naming their benchmark plans, including from groups that advocate for people with disabilities. “I realize there is a short time for a state to conduct meaningful public comment,” he said. “However, grass-roots organizations need to be allowed ‘at the table’ to enhance the decision based on consumer input.”

Dozens of people have written in already asking that coverage of medical foods be included for patients with PKU, a rare, inherited metabolic disorder in which the body can’t process the amino acid phenylalanine. Treatment must be started early in order to avoid damage to the body and involves a special diet, according to the National PKU Alliance.

Aleksandra Pisarek wrote that she is the mother of an 8-year-old boy with PKU who will require lifelong treatment to avoid brain damage. “Failing to ensure coverage for medical foods discriminates against people with PKU based on their disability,” she wrote.

The National PKU Alliance has urged members to write HHS, noting that the decision on medical foods may be left up to each state unless the government requires coverage of medical foods as part of the essential benefits category that covers chronic disease management. “Representatives from the NPKUA recently met with HHS on this issue, and HHS urged us to have as many people as possible submit comments on the new regulations,” the alliance’s website states.

Another group whose members sent many letters to HHS are those who receive or administer acupuncture treatment. Patricia Solomon, a Massachusetts pediatrician, said that “some of my most aware and careful parents seek acupuncture” and other alternative health treatments for their children. She said she was dismayed to see no alternative treatments included in the standards outlined for benefits. “Their value as adjuncts to traditional medicine is becoming clearer,” Solomon said.

Tabitha Silver of New York wrote, “Acupuncture has changed my life. It was the only thing that helped me with depression and pain.”

Stephen Scholle, the clinical director of a nonprofit that serves mental health consumers in Westchester and Rockland counties in New York, said his group provides acupuncture and should be included in essential health benefits, perhaps as part of wellness and preventive care. It helps with stress relief, pain relief and mental well-being, Scholle wrote.

Another commenter, Terri Bukacheski, said she is concerned that rehabilitative services and devices that are required to be provided in one essential benefits category are not well-defined. “Patients that require prosthetic limbs and orthopedic braces require these custom services for a lifetime, and the care must be provided by highly skilled experts,” she wrote. Devices should be clearly defined to include prosthetic and orthotic services, she added.

The time period for submitting comments in response to the “Patient Protection and Affordable Care Act: Standards Related to Essential Health Benefits, Actuarial Value, and Accreditation” rule has passed; however, visit the National PKU Alliance website for more information on how to support future advocacy efforts.

–NM

2 Comments

Filed under Advocacy, Formula

Billing PKU Formula According To Calories

Here’s something you may not know when it comes to the business of distributing and paying for PKU formula.

After trying the free sample of RESTORE LITE provided to me by Cambrooke Foods, I immediately connected with my clinic to have it added to my formula prescription. Apria Healthcare, which is the medical supply company that processes and ships my formula, called and told me, “We do not carry RESTORE LITE. We carry the regular RESTORE, but not the LITE.” After reporting this news back to my clinic, we decided to try Edgepark, a competitor of Apria Healthcare. What was Edgepark’s response? Not only does Edgepark not carry RESTORE LITE, they cannot carry the LITE because Apria, EdgePark and other “durable medical equipment” companies are reimbursed according to the number of calories in the formula.

PKU formula, Phenylketonuria formula, low-protein diet

The revelation that durable medical equipment companies are reimbursed according to the number of calories in PKU formula provides a whole new meaning to the phrase, “Spend your calories wisely!”

Call me crazy, but billing insurance carriers based on caloric value seems ridiculous, so while my dietician continues to search for an alternative medical supply company from which I can order my preferred formula, I decided to investigate this a little further.

A basic keyword Internet search turned up a 56-page document created by Abbott Nutrition and titled “Medicare Part B Enteral Nutrition Reimbursement Manual, 9th Edition.” Abbott Nutrition, which creates powdered PKU formulas such as Phenex-1 and Phenex-2, created this manual as a way to guide health care suppliers through the process of billing the U.S. federal health insurance program called Medicare. Here’s how the process is explained on page 9 of the manual:

Enteral nutrition formula is billed in “units.” A unit is defined as 100 Calories.

  • Calculation of units: Cal per day ÷ 100 = units per day
  • e.g., 6 cans/day  x 250 Cal/can = 1500 Cal/day ÷ 100 = 15 units/day
  • 15 units per day x 30 days per month = 450 units per month

Sound all Greek to you? Well, it does to me too. It appears that billing formula based on calories is a government-mandated method, but why (if I am not on Medicare) does it apply to me? Do durable medical equipment supply companies decide to apply this method across the board since they are already required to do so for Medicare patients? And what does that mean on a personal level? Do PKU patients now have to decide whether eating healthier is worth what is likely a significant increase in cost?

This way of thinking–whether it originates with the U.S. Government or with the medical supply companies–sounds all too familiar. For years, PKU patients have struggled with medical foods coverage based in large part on the incorrect assumption that a low-protein diet is cosmetic and only for achieving weight-loss.

Despite calorie count, medical formula is medical formula. Period.

If anyone from Cambrooke and/or Abbott Nutrition are reading this blog, I’d love to hear another perspective on this formula conundrum in the comment field below. Hopefully someone can explain why the 100-calorie difference you see between regular RESTORE and RESTORE LITE ultimately determines whether a patient in need receives their medical formula.

–NM

7 Comments

Filed under Advocacy, Formula

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

7 Comments

Filed under Maternal PKU

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

3 Comments

Filed under Conferences & Events