Tag Archives: Phenylketonuria

Creating a kitchen tablet holder for PKU recipes

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

DIY kitchen tablet holder for PKU recipes

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

DIY kitchen tablet holder for PKU recipesEnjoy!

–NM

Advertisements

1 Comment

Filed under Lo-pro Diet Management

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

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

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

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

PKU Hair Loss Telogen effluvium

Click image to enlarge.

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

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

–NM

10 Comments

Filed under Research

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

Leave a comment

Filed under Lo-pro Diet Management

Losing it: Both literally and figuratively over PKU and hair loss

PKU diet, PKU hair loss, hair loss, PKU loss of hairLet’s face it. Losing your hair in your early 30s—for whatever reason—is a scary experience. When mine started falling out in large quantities about two months ago, the coincidental timing with my return to the low-protein PKU diet did not go unnoticed. And while I’d rather deal with this humbling experience in private, I felt this subject warranted some attention especially since I’ve only been able to find bits and pieces of anecdotal evidence of the connection between PKU and hair loss.

So let’s start with what are some common reasons for hair loss:

  • Protein deficiencies
  • Deficiencies in vitamins (e.g. B and C), micro-nutrients (e.g. selenium and iron) and fatty acids
  • Imbalance involving thyroid
  • Autoimmune disease
  • Poor blood flow or poor circulation to the scalp
  • Fluctuating hormones
  • Stress

Here’s what you can do if you determine that one or more of these may be causing your hair loss:

  • Protein deficiencies—As was cited in this 2007 article from National PKU News, if a PKU patient is found to be protein deficient, simply increasing the amount of formula consumed each day could help. Speak with your PKU clinic and ask them to run an albumin blood test to determine if you are protein deficient.
  • Vitamin, micro-nutrient and fatty acid deficiencies—Because the PKU diet is so restrictive, vitamin, micro-nutrient and fatty acid deficiencies are likely culprits. A 2010 article from Karger Publishers titled Nutritional Management of Phenylketonuria notes that “Some AA [amino acid] products are devoid of vitamin and mineral supplements to improve taste and acceptability with the assumption that separate vitamin and mineral supplements will be taken each day,” (p. 62). The article goes on to note that the PKU diet tends to contain more carbohydrates and less fatty acids. To help counteract these deficiencies, you may want to take a daily multivitamin and make an effort to consume more vegetable oils that are rich in linolenic acid such as canola or soybean oil.
  • Autoimmune disease, thyroid, poor blood flow and fluctuating hormones–These conditions may indicate that something is wrong independent from the PKU diet; however, it is not impossible for PKU patients returning to the diet to also experience one or more of these. For example, maternal PKU patients may experience “wonky” hormones during and after pregnancy. In any case, these conditions may require a specialist consultation outside of your PKU clinic.

Through the process of elimination, I’ve been able to rule out most of these in my case. Unfortunately, stress—the last reason cited above—is difficult to manage on the low-protein diet. In this case, there are two types of stress worth distinguishing:

1.)    The mental stress it takes to deal with the complexity of the diet, accessibility issues and societal peer pressure

AND

2.)    The physical stress or toll that it takes on the human body when a person returns to the PKU diet

According to a registered dietician my clinic consulted with, hair loss from the sudden shock of returning to diet (which in my case was “cold turkey”), causes a large percentage of the hair follicles to enter into a resting or dormant phase. The patient doesn’t experience hair loss at that moment, but rather when the hair goes from the sleeping stage back into the growing phase, the new hair comes up and pushes old hair out. So in effect, the hair loss I am seeing now actually happened months ago, presumably when I returned to diet in January of this year.

This theory about the stress a body endures after returning to the PKU diet is simply that…a theory. There is little to no research confirming this theory however plausible it may seem. PKU medical professionals may chose to ignore the matter altogether on the premise that they are there to treat the diet and nothing else. This narrow approach to PKU medical treatment is concerning though, especially when you consider that hair loss may become one of the most difficult barriers to dietary adherence. At least it has been for me. In the interim, until more is known about how to treat or avoid PKU-related hair loss, this scenario may also be another “case-in-point” for the need to supplement PKU dietary care with mental health support.

–NM

Be sure to check out the follow-up post on PKU-related hair loss: Hair loss experienced by PKU patients returning to the low-protein diet is temporary.

13 Comments

Filed under Maternal PKU, Research

What I learned about PKU from 8 million books

Using digitized books to look at PKU trendsThis post is an adaptation of the “TED Talk,” or a video lecture, that was presented by Harvard University’s Erez Lieberman Aiden and Jean-Baptiste Michel in September 2011 called “What we learned from 5 million books.” Essentially, the two researchers created a tool called the Ngram Viewer, which allowed them to search the millions of books that Google has scanned and made publicly available. The large volume of text—which spans centuries and now includes more than 8 million books and approximately a half trillion words—can provide insights into our world, our history and emerging trends simply based on the popularity of certain words or phrases.

Naturally, I wondered what this nifty tool could tell me about the history of PKU and how its treatment has evolved over the years. Before experimenting, I had to narrow the dates in which I would conduct my search. Google’s digitized books include publications between the years 1800 and 2000. For the purpose of investigating PKU, I selected 1930-2000. To understand why, here’s a brief look at PKU chronology:

  • 1934 – PKU discovered by Norwegian physician Dr. Ashbijorn Folling
  • 1953 – Researchers found that a phenylalanine restricted diet helped to treat PKU patients
  • 1963 – Guthrie Method developed (Bacterial Inhibition Assay)
  • 1965 – Newborn screening initiated in the U.S.
  • 1980s – The gene responsible for phenylalanine hydoxylase production was isolated and since that time over 500 mutations in the gene have been identified

And here are some insights that I gathered:

We can visually see how PKU has prepared the way for newborn screening

Google Ngram, How PKU has prepared the way for newborn screening

Click on graph to see a larger view.

Metabolic disorders were in the English vernacular long before PKU or newborn screening. But we can tell the results of this search correlate with the chronology of PKU. The PKU acronym appears as early as the 1930s—when Folling discovered PKU—but it does not pick up in frequency until the Guthrie test was created in the 1960s. Almost immediately or soon thereafter, the concept of newborn screening takes off. We now know that the Guthrie test, which was originally developed to screen for PKU at birth, has led to newborn screening tests for more than 40 developmental, genetic and metabolic disorders.

PKU is most commonly described as a disease

Google Ngram, PKU is most commonly described as a disease

Click on graph to see a larger view.

One of the cool features of the Google Ngram Viewer is that you can use the characters “=>” to determine what words are used to modify other words or phrases. For this particular search, I wanted to see what adjectives were used to describe PKU. Was it disease, disorder or syndrome? As you can see here, disease is the most common descriptor for PKU while syndrome is the least frequently used term. Interestingly, disease is also the first descriptor we see in the literature—it appears that old habits are hard to break!

The practice of counting phe has overtaken the practice of counting grams of protein

Google Ngram, Counting phe has overtaken counting grams of protein

Click on graph to see a larger view.

When I was on the PKU diet growing up in Pittsburgh, Penn., my mother counted phe exchanges. When I first considered a return-to-diet not too long ago, I was advised to count grams of protein. However, after speaking to some other women with PKU, I’ve learned that counting milligrams of phe is a more precise way to track protein intake, especially when considering a PKU pregnancy. Given that experience, I wanted to see what published works in the Google library might suggest is most commonly cited. Here you can see that while the use of grams of protein started strong in the 1930s, tracking milligrams of phe has slowly gained popularity and eventually taken the lead. Interestingly, phe exchanges are not mentioned at all.

The word diet is still overwhelming used to describe PKU medical care

Google Ngram, The word diet is still overwhelming used to describe PKU medical care

Click on graph to see a larger view.

For my last Ngram PKU search, I decided to compare the phrases PKU diet and PKU treatment. In the past, some PKU patients have been denied access to medical formula and foods because of the misconception that the PKU diet is cosmetic and for losing weight. Despite that barrier to PKU therapies, there has been little effort to change the language by which we describe medical care for PKU. Perhaps if Google expanded the scanned library of books to include the years beyond 2000, we would start to see a reversal in this trend.

To be fair, there are some limitations to conducting this Ngram PKU experiment. PKU literature is mainly published in research journals rather than actual books and more recent developments like the first FDA-approved prescription drug to treat PKU would not be included within this data. Nonetheless, I couldn’t resist having a look to see what kind of insight this tool might provide.

Have you played with Google Labs’ NGram Viewer? What other PKU trends and phrases do you think would be interesting to search for?

–NM

7 Comments

Filed under Research, Technology

How to save money with a PKU herb garden

An article published in the March 2013 edition of Genetics in Medicine found that 50 percent of states provide either no coverage of medical formula and modified special low-protein products or only partial coverage of these required PKU therapies.

Those of us living with PKU do not need a reminder about just how expensive it is to remain on-diet; however, there is certainly a bit of vindication whenever a peer-reviewed, academic journal reiterates this point. Beyond specially formulated low-protein products, families dealing with PKU are often advised to experiment with herbs and spices. The idea being that some creativity in the kitchen can lead to flavorful meals that people with PKU will actually want to eat!

Yet, I have found that even buying fresh herbs on a regular basis can be costly. Plus, you generally have to purchase them in large quantities and then you are left tossing the left over herbs when they have eventually spoiled.

How to Save Money with a PKU Herb GardenThe solution? I recently started my own PKU herb garden and it features a handful of herbs that I have used most over the past three months: cilantro, basil and rosemary (and for good measure, I’ve also included two cherry tomato plants).

Here is a basic cost comparison (tax not included) for purchasing herbs at a local grocery store versus growing your own:

Herbs at
Grocery Store
Herbs at Home
Improvement Store
Cilantro, $1.99/0.66 oz Cilantro, $2/plant
Basil, $1.99/0.66 oz Basil, $2/plant
Rosemary, $1.99/0.66 oz Rosemary, $2/plant
TOTAL: $5.97 TOTAL: $6

There you have it; only a $0.03 difference for the initial upfront cost. What’s significant is you’ll have to pay approximately $6 each time you buy these three herbs at the grocery store whereas you’ll pay $6 one time for plants that will last you all growing season!

Of course, there is the added cost of potting soil and a planter, but you could also experiment by planting your own garden directly in the ground.

Have you also started a PKU herb garden? Perhaps you’ve planted more than just herbs. Either way, let me know how green your thumb is!

–NM

3 Comments

Filed under Lo-pro Diet Management, Recipes

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

5 Comments

Filed under Maternal PKU, Research