Category: Levels

BC Residents and news, Levels, Managing the diet, News

Interview with Nathan

Posted on by Amanda Horner

Back in february before Madelyn was born , i was corresponding with Nathan  Kuehne the young man from Victoria who is working on the home phe testing device. 

After watching his amazing tedx talk on the device that was posted to youtube back in december i had a few questions so i wrote an email to nathan , and he has allowed me to share his responses on my blog.

 

 

 

Amanda :

From what I understand , the test turns purple in the presence of PHE. However since we area always eating protein and a limited amount of phe is always in our blood, this would mean that the test should always read positive? What I would like to know, is have you developed a way to accurately detect and read in numbers just how much phe is in the urine? Like reading? it is not enough to just have the presence detected, for treatment, we need to be able to read how much is present. Like on the home tests being developed with blood, they have a screen that produces a digital number. Will your device be able to do the same?

Nathan:

First off, I need to preface my answers to all the questions with a bit of a disclaimer. Due to the nature of a TEDx talk, it is hard to delve into the chemistry in sufficient detail to cover all the aspects of the project. As a result, many of the obvious questions that would arise from my work, especially for a PKU patient, would not be found online in the talk, but are questions I have definitely considered and I include in my other presentations (competitions, Science Fair, interviews, ect.)

Anyway, the answer to your question is both yes, and no. You are absolutely correct, any Phe will start the chemical process and produce nanoparticles, and thus the colour change. Having said this, the reaction is not a runaway train after that (bad analogy, my apologies). Only so many nanoparticles will be produced as there is Phe in the solution. This means a gradient will be produced depending on the amount of Phe in the sample. The more Phe, the darker the solution; I’ve included a picture that demonstrates this more easily than I can in words (Figure 1).

With this in mind, I was planning on developing something along the lines of a pH chart for people to read their levels. It could be a small piece of paper or something equivalent, and it would show a gradient of purple, and what concentration each colour corresponded to. This would give people the ability to attach a numerical value for blood concentration to their visual test, and thus determine how much is present.

Alternatives to the chart include using solution conductivity. Since the solution produces gold nanoparticles, the conductivity of the solution would increase as the amount of Phe increases. This way, I could imbed a program that converts solution conductivity to an actual value, taking away the risk associated with visual interpretation of a chart. While I acknowledge that this would be a much better method to go about the test, as a high-school student, it is slightly out of my reach at the moment to pursue and develop electronic integration to my test, therefore I am more included to pursue the chart at the moment. However, this may change as I continue to work on it.

Amanda :

my second question is : Many of the home tests in developed by the NPKUA and previously by Biomarin, have had trouble with accuracy when phe levels like mine are in the low range. Does your device operate similarly? how can you improve the accuracy for lower range levels? Idealy PHE levels in anyone should be 2-6 mg / dl so that would be considerably lower then say someone who is suffering from high levels. My highest level I ever had was 25 mg/ dl.

Nathan:

As I mentioned in my answer to the first question, there is a lot of more complex experimentation I leave out of my presentations, and this is one of them. As part of my research, I did tests regarding a concept called the Limit of Detection, or the LOD. Essentially, this is a test that determines how sensitive my test is, and gives me a value of how low the concentration of Phe can be for me to know if the colour change is because of Phe or if the colour change is due to experimental error.

My LOD was below that of the low-end range of Phe levels in PKU patients, according to published literature, meaning my test works for all concentrations of Phe. However, I am not 100% sure how the accuracy changes at those lower levels – that will take more research to determine. I am optimistic, considering the reliability of gold nanoparticle production with Phe, that the accuracy should not change very much.

Amanda:

There are 2 systems for reading PHE results. In canada we use the milligrams per deciliter and in the states or the uk we see that they use the umol/ L system . where levels range is 120-360 . What system would your device use?

Nathan:

Regardless if I pursue the chart system, or the conductivity system, since mg/dl to µM/L is a simple conversion, it would be very to make my test useable in both locations, with both sets of units included.

Amanda :

have you been approached or applied to either the NPKUA, CanPKU or the government for any sort of assistance in developing your device or plan to?

Nathan:

I have not been approached nor have I applied to any agency or organization for assistance, and this is for a few reasons. The main reason is that I am working on a slightly different project at the moment, which may replace the device I developed and presented in my TEDx talk. I am trying to port the chemical aspect of the test to a specially designed piece of paper, and as a result, remove the need for the device. Because as much as I like it and am proud of it, it is large and fairly cumbersome. As an extension, this new test would, theoretically, include the capability to test for types of cancer, Alzheimer’s, and other metabolic disorders like PKU. It is still in the research phase, and as a result, I can’t speak to whether it will be successful or not. If all goes well, this new platform will be the method of testing for PKU.

If it is not successful, I will consider returning to the device, and trying to optimize parts of that system. With this in mind, I have not sought out funding or support yet because, quite honestly, I am not sure what will work best and as a result, what I may try and develop further.

Amanda :

And lastly, if it is ok with you, once you have replied, may i publish this conversation to my blog? with your permission of course. I think these are all questions we have had since you have entered our world and it has spurred many conversation on social media.

Nathan:

Yes, I would be happy for you to share my answers. I have been in contact with a few other members of the PKU community as a result of places I have posted my talk, and I would love for these answers to reach people like them.

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Levels, Managing the diet, MPKU Journey!, That's my PKU life

Battle of the Blood Dots.

Posted on by Amanda Horner

2015-11-02 10.39.59

Regularly a person with PKU has their blood phe levels tested once a month . When I was trying really hard to be on track with y diet and keep my levels below 10 I did them once a week. I felt it made me more accountable to staying on diet. I found when I did them once a month I was more liberal and would eat better for the 3 days leading up to my blood dot then i would the rest of the month. By doing them once a week it discouraged me from cheating or eating liberally. Though I was more more liberal before I got pregnant. I was still considered on diet as I drank all my formula, and had phe levels below 10. However I did not weigh or measure my intake and I did not keep a food log or track calories. Now that I am pregnant I am doing blood dot cards monday , wednesday, and fridays. I drive them up to the hospital for them to be couriered to Vancouver’s newborn screening laboratory at BC Children’s hospital. Results are ran ASAP thanks to the pink sticker on my cards that classifies me as a maternal PKU patient and then results are emailed to me. The turnaround is usually 3 days.

A post on one of my PKU facebook groups this morning prompted me to share a blog post dedicated to these blood draws.

Up until I as 13, my blood was checked at a Lifelabs office through a venous draw from my arm. When I was 13 my clinic switched to blood dots and an annual venous blood draw.

I was taught to take my blood at home from my finger. I was instructed to always fast before a blood draw as this gives a true blood levels and is a bit more elevated then it would be after eating. So a true representation un affected by eating.

I warm my hands before hand. I have found through trial and error that a full shower before hand does the trick. I buy my lancets from the pharmacy in bulk. When I was younger we had a pen that we placed these tiny lancets in now we have a trigger that is the whole thing in one. I prefer the Accu- chek lancets. They have a 3 depth setting. I usually only use the second which is the default. Here is a photo of my lancets:

2015-11-02 10.52.32 2015-11-02 10.53.07

I poke my finger on the inner side of the pad facing me. I have circled the spot in this photo to help explain:

2015-11-02 10.55.17

I was taught to not touch the card with my finger but I sometimes do accidently and it has not effected my test. I was shown to “milk” my finger and gently push around the puncture and let the blood flow . It takes more then one drop to fill a circle. I will press on my finger till I fill the circle before moving onto the next one. Though my finger does not touch the paper, I do dab the drop of blood against the card to help it along. usually 2 or 3 drops will fill a circle nicely. If I don’t warm up my hands first , then I end up not getting enough blood and it dries up before i fill a circle and I have to re poke my finger. I usually alternate what fingers I use to help avoid calluses but I tend to use my index the finger the most.

It takes a few minutes at most and is painless. The real pain is driving them up to the hospital but in the end so worth it.

Blood phe levels here are 2-`10 mg/ dl  for adults  and 2 to 6 mg/ dl for pregnancy. We measure in mg/ dl scale. I can’t quite remember the conversation right now. I know its either divide by 60 or by 90. I will have to look it up in past blog posts. Unless someone cares to comment and refresh my memory?

When I am not pregnant , levels take a week to 10 days to get results back. I look forward to the day we have a home testing device !!

I hope this helps those of you who has, and as always please feel free to ask me any questions , I am always happy to help!

2
Levels, Managing the diet, MPKU Journey!

Tyrosine and why we need it.

Posted on by Amanda Horner

What is Tyrosine?

In anyone who does not have PKU. Phenylalanine is broken down by the enzyme we don’t have and is converted to Tyrosine. Tyrosine is an amino acid. Tyrosine or 4-hydroxyphenylalanine, is one of the 22 amino acids that are used by cells to synthesize proteins. It is a non-essential amino acid ( Source Wikapedia) https://en.wikipedia.org/wiki/Tyrosine.

Tyrosine is incorporated into all proteins and is a precursor of thyroxine, melanin, and the neurotransmitters dopamine and norepinephrine.. ( source : The American Journal of Nutrition)

Tyrosine is found in foods with high amounts of Phenylalanine such as meat, dairy, seeds, soy , beans, avocados, and bananas.

As someone with PKU I do not produce tyrosine .

What does Tyrosine do?

A number of studies have found tyrosine to be useful during conditions of stress, cold, fatigue, prolonged work and sleep deprivation, with reductions in stress hormone levels  and improvements in cognitive and physical performance .  ( Source Wikapedia)

Tyrosine and Maternal PKU

Occasionally in pregnant women with PKU , tyrosine is added to formula for growth and development of the fetus. Having PKU limits the amount of tyrosine in my body and We do not get enough from our formula and low protein diet to accommodate pregnancy. If you have PKU and are not pregnant you do not need to supplement.  For PKU pregnancy Tyrosine is recommended to be between 33 and 61 in the second trimester.

Tyrosine levels fluctuate during the day and fasting vs non fasting that is why there is a range.  During the first trimester I did not require supplementation.  Now as I progress through 2nd trimester I am having to add tyrosine powder to my formula.  I started off with 5 grams daily divided up between the day. Then my levels dropped again. My clinic does not make the decision to change my tyrosine supplementation or phe tolerance based on one level so we wait to see one or 2 more before increasing. I am now up to 8 grams of tyrosine a day and my last phe level was 2.7 and tyrosine 47. Both perfectly in range.  We expect to increase my phe and tyrosine dosage again soon. Specially in 3rd trimester.

Low tyrosine and low blood phe levels can cause slow growth or growth retardation, So Raising tyrosine concentrations in blood may increase the amount of tyrosine and decrease the amount of phenylalanine transported across the blood-brain barrier. So this is beneficial to the PKU brain and developing baby.

Essentially, because I don’t have enough Tyrosine in my body due to my PKU, neither does the baby. The baby needs the tyrosine to grow. I cannot provide it from the foods I eat.  Though I get enough for myself in my formula. I need extra to sustain a growing fetus.  Tyrosine crossed the placenta at a high rate then what is used and needed in my body. So when my blood phe levels are tested we are also looking at tyrosine to monitor levels and insure its not to low or not to high. High tyrosine levels can also be toxic.

Side effects of high levels of Tyrosine is not yet well known.

I am currently researching this topic and have sent a request to my clinic to further provide education and information for you. I hope this post has been helpful and I hope to expand on it again in the near future.

0
Levels, Managing the diet

Annual Blood work 2014

Posted on by Amanda Horner

Yesterday I had my annual blood work  done. I hate getting this done due to the fasting. I fasted for about 14 hours. Fasting makes me so sick!! I always wake up very hungry right away, and the longer I dont eat the sicker I feel. Buy the time I drive to the lab and wait in line I feel like I am going to faint or throw up. I have never looked forward to these tests for that reason. The actual tests don’t bother me at all, I watch to and sometimes coach the girls. The girl I had this year had not seen so many tests . I told her not to worry and to breathe and joked around with her about how use to this i am. I have it down pat. I ask right away that they use a butterfly, that I get something to grip, only use the one arm, don’t worry about the scar tissue, or hurting me. no tape, band aids only.

My guess this year was for 6 vials, it was 7 with a urine test to test kidney infection. These annual blood work are important for your clinic to see how your low protein diet and formula are effecting your body. if you are getting enough or to little and if any changes need to be made. Last year my cholesterol and triglyceride where high and my ferritin levels had bottom out and where un readable under 5. This year I have already received a few results back. With some improvements!

I thought I would share my results with you so here are the results I have already received.

My total Cholesterol has improved, last year it was 5.09 and now it is 4.06 ( Normal is 2-4.59)

Prealbumin is 268 ( Normal is 170-360)

WBC
5.5
Normal is : 4.0-10

RBC
4.70
Normal is : 3.80-4.80

Hemoglobin
145
Normal is : 120-150

Hematocrit ( out of range)
A 0.45
Normal is : 0.35-0.43

MCV
95
Normal is : 82-98

MCH
30.9
Normal is : 27.5-33.5

MCHC
326
Normal is : 305-365

RDW
12.8
Normal is 11.5-14.5 %

Platelet Count
273
Normal is: 150-400

Differential
Neutrophils
4.0
Normal is : 2.0-7.5

Lymphocytes
1.0
Normal is : 1.0-4.0

Monocytes
0.5
Normal is : 0.1-0.8

Eosinophils
0.1
Normal is : 0.0-0.7

Basophils
0.0
Normal is : 0.0-0.2

Granulocytes Immature
0.0
Normal is : <0.2

Ferritin ( Out of range )
A 12
Normal is : 15-180

Adults: <15: diagnostic of Iron Deficiency

15-50: Probable Iron Deficiency

51-100: Possible Iron Deficiency

>100: Iron Deficiency unlikely

persistently >1000: Test for Iron overload
Sodium
141
Normal is 134-145

Potassium
4.7
Normal is : 3.5-5.0

Chloride
105
Normal is 98-106

Bicarbonate
26
normal is : 20-29

Urea
4.1
normal is : 2.5-7.0

Creatinine
65
normal is : 50-100

Estimated GFR
94
Normal is : >=60

Calcium
2.31
Normal is : 2.10-2.55
Cholesterol ( out of range)
A 4.60
normal is : 2.00-4.59

LDL Cholesterol
2.30
Normal is : 1.50-2.99

HDL Cholesterol
1.47
Normal is : >1.10

Chol/HDL (Risk Ratio)
3.13
Normal is : <4.4

Non HDL Cholesterol
3.13

Non HDL-cholesterol is calculated from
total cholesterol and HDL-C and is not
affected by the fasting status of the
patient. The optimal non HDL-cholesterol
level for intermediate and high risk
individuals is <= 2.60 mmol/L.

Triglycerides ( back in range, improved since last year )
1.82
Normal is : 0.45-2.29

Urine Calcium
0.2
mmol/L

Urine Calcium/Creatinine
0.07
Normal is : 0.01-0.39
Urine Creatinine
2.7

Urine Protein
0.02
normal is : <0.15

Urine Protein/Creatinine Ratio
7
Normal is : 0.0-25.0

ACR (Microalbumin/Creatinine Ratio)
<1.0
Normal is <2.8

TSH
2.0
Normal is : 0.27-4.2

Prealbumin
268
170-360

All in all I am happy to see that my TSH is normal. That my Ferritin has improved, that my cholesterol and triglyceride are better. I am not surprised that my sodium is border line, I eat alot of salt. I will have to work on that.

I am expecting more results soon. Including my Amino Acids and Blood PHE.

1
Levels

Phenylalaine Levels

Posted on by Amanda Horner

I have had quit the journey with my Phenylalaine levels over the course of my PKU treatment. I was born with the highest recorded levels in BC , I am told my recorded phe level for my diagnosis was 60 mg/dl . I have classical PKU and am very sensitive to my PHE levels. Anyone who knows me , knows that it has been a life long battle. I have struggled with keeping my levels in range all my life. As a teenager I suffered from high level syndrome and had very high levels. I cheated and lied about it. I had a lot of side effects. I spent time in BC Children’s Hospital to be withdrawn from my dangerously high levels.  As an adult my levels have been some what stable but like anything , they are a up and down and dependent on fiances, sickness, stress, and just life.  Now my body is so sensitive to the slightest changes. I can feel it when my levels are high. I can feel it all over my body, even within a few hours. I never could tell before and would argue my friends and family that I felt fine.  I can feel the slightest change and I know when my levels are high.

I am at a point in my life and in my relationship that I am thinking about having a baby in the next year or 2 and have always wondered if I could have a successful pre-conception diet with levels constantly in range. I never felt that it was a possibly with me due to the nature of my levels, now with the new low protein food coverage in BC, having a child has become a real possibility so I am focusing more on my levels.

I find that I do better with my low protein diet when I am doing blood tests regularly , or once a week. It keeps me accountable. I have learnt about my personal patterns, trends and I have learnt to listen to my body. However I thought it would be interesting what my levels would look like on paper. After emailing my clinic today, I finally know . I find it so interesting and just wanted to share it with my followers.

 

Here are all my blood phe levels since 2004.

Test Test Date Result
phenylalanine 13-Aug-04 11.8
phenylalanine 23-Sep-04 16.9
phenylalanine 10-Nov-04 11.5
phenylalanine 30-Nov-04 14
phenylalanine 10-Feb-05 10.4
phenylalanine 06-Jul-05 15.4
phenylalanine 29-Dec-05 12.4
phenylalanine 29-Apr-06 8.2
phenylalanine 27-May-06 10.8
phenylalanine 08-Jul-06 7.7
phenylalanine 05-Aug-06 1.8
phenylalanine 02-Sep-06 2.3
phenylalanine 09-Dec-06 8.6
phenylalanine 16-Jan 6.9
phenylalanine 03-Feb-07 6.9
phenylalanine 23-Jun-07 6.3
phenylalanine 23-Jun-07 6.8
phenylalanine 22-Sep-07 9.4
phenylalanine 03-Nov-07 7.5
phenylalanine 12-Jan-08 11.6
phenylalanine 26-Jan-08 13.7
phenylalanine 13-Feb-08 6.3
phenylalanine 14-Feb-08 6.8
phenylalanine 17-Feb-08 5
phenylalanine 26-Mar-08 15.1
phenylalanine 09-Apr-08 7.6
phenylalanine 17-Jun-08 1.8
phenylalanine 07-Sep-08 6
phenylalanine 23-Sep-08 5.8
phenylalanine 04-Jan-09 8.1
phenylalanine 12-Feb-09 9.7
phenylalanine 12-Mar-09 8.7
phenylalanine 25-Apr-09 7.9
phenylalanine 23-Jun-09 7.5
phenylalanine 22-Jul-09 11.4
phenylalanine 15-Aug-09 11.2
phenylalanine 03-Oct-09 8.6
phenylalanine 04-Dec-09 9.3
phenylalanine 13-Dec-09 8.1
phenylalanine 04-Mar-10 14.5
phenylalanine 15-Jul-10 11.2
phenylalanine 27-Sep-10 5.9
phenylalanine 03-Oct-10 4
phenylalanine 10-Oct-10 5.5
phenylalanine 02-Jan-11 9.5
phenylalanine 09-Mar-11 7.1
phenylalanine 01-Apr-11 11.2
phenylalanine 05-Apr-11 10.2
phenylalanine 12-Apr-11 10.1
phenylalanine 08-Aug-11 10
phenylalanine 14-Oct-11 11.2
phenylalanine 13-Nov-11 12.6
phenylalanine 02-Dec-11 12.2
phenylalanine 07-Dec-11 12.4
phenylalanine 19-Dec-11 9.9
phenylalanine 07-Jan-12 8.1
phenylalanine 14-Jan-12 11.2
phenylalanine 21-Jan-12 9.8
phenylalanine 25-Jan-12 8.3
phenylalanine 01-Apr-12 14
phenylalanine 07-May-12 9.7
phenylalanine 21-May-12 8.9
phenylalanine 28-May-12 6
phenylalanine 07-Jun-12 7.7
phenylalanine 15-Jun-12 8.5
phenylalanine 21-Jun-12 8.2
phenylalanine 01-Oct-12 8.6
phenylalanine 01-Nov-12 3.9
phenylalanine 15-Nov-12 2.4
phenylalanine 21-Nov-12 2
phenylalanine 28-Nov-12 5.7
phenylalanine 01-Dec-12 7.7
phenylalanine 08-Dec-12 10
phenylalanine 13-Dec-12 6.6
phenylalanine 21-Dec-12 7.1
phenylalanine 28-Dec-12 5.7
phenylalanine 05-Jan-13 7.2
phenylalanine 12-Jan-13 5.6
phenylalanine 20-Jan-13 6.6
phenylalanine 27-Jan-13 6.5
phenylalanine 01-Feb-13 6
phenylalanine 09-Feb-13 4.6
phenylalanine 16-Feb-13 7.3
phenylalanine 01-Mar-13 8.4
phenylalanine 15-Mar-13 7.3
phenylalanine 23-Mar-13 8.1
phenylalanine 29-Mar-13 11
phenylalanine 01-Apr-13 11.9
phenylalanine 21-Apr-13 9.6
phenylalanine 02-Jun-13 8
phenylalanine 12-Jun-13 4.8
phenylalanine 16-Jun-13 4.7
phenylalanine 16-Jul-13 3.5
phenylalanine 23-Jul-13 1.5
phenylalanine 05-Aug-13 3.6
phenylalanine 08-Sep-13 4.6
phenylalanine 03-Oct-13 5.2
phenylalanine 17-Oct-13 8.6
phenylalanine 01-Dec-13 9.8
phenylalanine 21-Jan-14 3.3
phenylalanine 04-Feb-14 4.4
phenylalanine 13-Feb-14 6.3

I find this so interesting. I can look back at this list and I know that it is snap shot, how much these little numbers represent is the difference between brain damage , sickness , and health.

 

I can tell you in 2004 , it was before I met Cole and was still in high school. I was coming to the end of my illness and constantly high levels. I was coming out of some serious traumas and starting to accpet my PKU and what it truly meant.

I met Cole in July 2005, we moved in together in June 2006. You can physically see my levels begin to drop after we moved in with each other. Cole has been so supportive of my life, and my PKU. He taught himself early on everything there was and has always encouraged me to be healthy . Cole inspired me to get healthy and to care more about myself and my body.

2008 is when I began on my path to PKU advocacy and started working on my first PKU Walk-A-Thon, It is when I finally opened up to my friends about my PKU . It is when I began to become interested in treatments, research, advocacy and the future of PKU. It is when I first joined facebook and started to meet other people around the world who shared my experiences.  However it is also when I had my accident, so there are some rocky times and not everything in my life was stable.

2009 and 2010 is when I was taking my LPN course in college to become a Nurse!

2011 and 2012 where my last 2 years in victoria, working casually as a nurse, dealing with depression, and anxiety but managing ok.

2013 was my first year in Kamloops.

Looking at this list I can see how much life has effected my levels, where I was at and where I have been and how far I have come. What you do not see is prior to 2004. From 1999-2003 where my levels where as high as 23-26 mg/ dl

My journey with my phe levels and the close relationship I have with my body has taught me much about my health. I understand that everything is connected and the impact life can have on levels, but that levels can have on life. I feel that my experiences have made me who I am today and though I wish I could say that levels are good, and that I wish I never suffered long term permit damage, I have an I have accepted it. I regret what I put my body through , the risk I put myself through and what I did to myself. I wish I could change it and have never fallen off track with my levels, BUT it has made me who I am today. I know now how important it is. I know what can happen. I have experienced the bad and the good and I feel like It has made me a stronger better person. NO one should have learnt the hard lessons I have had to learn , but looking back I am glad that I have. Now I can use my experiences to help others never get where I was. All I can do is take one day at a time, each day as another chance to do better for myself, my health and my body. To learn and to grow and be better. To never get to where I was again , and that makes it worth it.

I hope you find this snap shot as interesting as I have, if you have any questions or comments please feel free to leave me a message and I will do my best to get back to you!

 

 

 

 

0
Levels

Managing bringing high levels down.

Posted on by Amanda Horner

When my levels are high, I can feel it immediately . I use to never believe that, and always said I was fine. Now I can tell with in a few hours.

When I was younger and was admitted to BC Children’s hospital with very low levels, they actually had to withdrawl me. I still remember it. Not an experiance I wish to relive. It took 3 days to “crash” down my levels. The first day I could have nothing but my formula. On day 2 and 3 I had my formula for all 3 meals but with lunch and dinner I was aloud to have applesauce too. Then foods where slowly re introduce as my blood levels where closely monitored with daily blood tests.

It was a good thing I was in the hospital for this process, I highly do not recommend anyone one try this at home on their own. The side effects from crashing your levels down and the hunger that goes with it was excruciating.

Now when I know my levels are high and its for an extended amount of time I have my own way to drop them down faster but not to crash them out.

My method is to focus souly on eating low protein food, breakfast, lunch and dinner and nothing else for 3 days . Well also including my formula. I never miss that. During this 3 days I do not worry about going above my recommended calories or being to low with my daily intake.

After the 3 days If I still feel “high” I will continue on a day to day basis. I usually start off with a blood test and end with a blood test. If I feel like they have lowered I start adding in foods again, cooking a variety of ways with different ingredients and being more “normal” .

I can tell my levels are high because I feel sluggish, “off” sick, nauseated, headache, trouble focusing, upset stomach, trouble finding words, being in a “fog” sensation and just generally un well.

When my levels are lowering I have similar symptoms but they feel different. It is hard to explain but I can tell they feel diffrent . Also they are not all at once. Most will ease off by day 2 expect the headache that will linger for a few days. Eventually I will start to feel more clear and “normal ” again.

I do not share this to teach others what to do, as I do not recommend trying to do something like this with out supervision from your clinic or if you do not know your body as well as I know mine. You should always talk to your clinic first, they will be able to guide you and make recommendations. I share this with you as it is my experience and because I was asked too.

No one is perfect, we all have off days, high levels will happen. Dont beat yourself up, just pick yourself back up and try again.

For me my levels always get higher when I am away from home on a trip or vacation. Example, When we where just in victoria. I knew my levels where going up over the holidays, and eating out while away did not help. I ultimately pay the price no one else, and now I must work harder to get back on track.

I really hope to one day master being able to travel and sticking to my strict diet. Even if its easier to say ” oh well I am on holidays , ” and give in!

 

 

2
Levels, Managing the diet, News

First-ever PKU treatment guidelines

Posted on by Amanda Horner

This email was just sent to me by the President of CanPKU and my Friend John Adams. It is very lengthy and detailed but worth the read. Admittedly I have not read the article in depth but I have skimmed through it and am in awe. I will attempt to read all 13 pages later and make a summery post about it as well as my thoughts. For those of you who read it , Id like to hear from you and your thoughts.

I have had the pleasure of meeting both Dr. Jerry Vockley and Dr. Barbara Burton at CanPKU PKU days in Vancouver.  They are incredibly wonderful and brilliant people and a vital resource to the community as well as wealth of knowledge and information. Their brilliance leaves me in awe.

I am very happy to see the results of there hard work and years of endless research. Things are changing in the world of PKU , new advancements like this make me very hopeful.

Here is the link to the PDF’s online.

https://www.acmg.net/docs/Phenylalanine_Hydrosylase_Deficiency_Practice_Guideline_AOP_Jan_2013.pdf

 

 

1
Levels, Managing the diet, That's my PKU life

Annual Blood Draw day.

Posted on by Amanda Horner

Well Yesterday was my annual blood draw day. I do not look forward to this day. in fact I normally put it off then it ends up being a few years before I go in to get it.  A while back I use to have them done at the the lab in langford but a few years ago they where changed to only being done in the hospital. Which is a big inconvenience. I really hate fasting. I feel sick when I fast. I always wake up hungry, so fasting is really hard. By the time I prepare some cearal and formula to take with me, get my stuff together, drive there and wait in line, then have the test done. I really start to feel sick. I start to get nauseated, dizzy, and stomach pains. The longer it goes on the worse I feel. I start to feel sluggish and just really sick.  So needless to say I really start to dread it.

Than I learnt that that the kamloops life labs does do all the tests that I need to have done and you can book an appointment. So I booked my appointment for the earliest I could get at 7:50am. Of course than though I could not sleep. So I was up frequently through the night and could not eat or drink. Then I thought my appointment was at 7:10 so I got up at 6 when Cole woke up. I packed a bowl of dry froot loops and my formula to take with me and ended up eating in my car  later while I got my oil changed and winter tires put on.

I made it to the lab just before my appointment time and it was a pretty empty waiting room. They took me right in but my lab req’s confused them a bit. I had 2 one from my family doctor and one from my clinic in Vancouver that had a lot of the same tests, also the test from my PKU clinic said it had to be sent to bc children’s hospital. Which wasn’t in their computer. I over heard and came out and told them where to send it.

I have been getting these tests done my hole life so I know what veins work and what don’t and what helps. I always request a “butterfly” which is a small needled that has a cord attached to the vials. Its a lot easier for smaller veins and for when you are having a large amount collected. Does not hurt and dose not collapse the vein. I also grip a urine spec jar in my fist otherwise I cant grip strong enough. I always ask for no tape after it makes my skin hive so I get a band-aid.

My left arm is the only arm to get blood from. I have been getting blood there for so long I have a lot of scare tissue and a permit puncture mark. The best vein is right under the scare tissue or to the left of my elbow in the inside. I never really need to be poked more than once.

However I was really dehydrated and cold so my veins where non existent yesterday.  The first lady had to try twice. she did end up trying the right arm , no one ever gets blood from my right arm and it always hurts!

The rule at this life labs is one person is only allowed to try twice, and they are not aloud to try more than 3 times in 24 hours.

Luckily the next lady got it on my left arm on the outer side. So a few bruises and an hour later all the vials where full and I was free to go!

These blood collections use 2 “yellow” tubes, 2 “lavender” tubes, 3 “green” tubes, one that needs to be kept cold for 10 minutes then spun. I believe that is the amino acids and fatty acid draws. There are a couple other colors but I forget now, i’m thinking “red” and “orange”

These tests are done once a year to monitor our blood profiles, vitamins, minerals, electrolytes, tyrosine, tsh (thyroid)  diabetes test , triglycerides, amino acids, levels of fatty acids and more. Its to ensure we are getting all the formula we need, that we are getting enough protein and that our diet is working for us. The profile usually lets the clinic know if anything needs to be changed or if we need to increase or decrease, if we should add vitamins or take anything away. My last test last year my triglycerides where to high and I was suppose to start taking salmon fish oil capsules or omega supplements but I cant swallow them there so huge. Not to mention they smell bad. Like awful chocolate and fish.  When I was a  teenager my iron was low, I was anemic and I also needed to supplement my formula with tyrosine.

My family doctor filled out a rec for me to take yesterday to as he was concerned again about my iron and on the form he selected suspected hypothyroidism. I am to go back to see him in a week for the results.

The results for my clinic will take a lot longer and my dietitian will email me with the results.  The amino acid and the fatty acids take the longest. I know my blood phe level will be higher this week to. MY level from October 3rd was 5. 2. However I have been really eating a lot of mashed potatoes and cream corn for dinner the past 2 weeks, as well as I had regular toast one night at work because I forgot my breakfast. Than on Wednesday night it was my friends birthday and I had a small slice of birthday cake. So I predict my levels will be between 8 and 11.

I have been trying to do my blood dots every few weeks but have been doing them monthly the past 2 months. Since I know I am high I am going to do another one.

Sometimes it hard for me to do my blood dot when I know I haven’t been eating well because I really don’t like to see higher numbers . I think its a part of me from when I was a kid and would get in so much trouble when they where high. I always felt so bad and guilty when my dietitians called or when I was in hospital for my clinic visits and I had to be talked to yet again about high levels. Eventually I started to tune them out and we all know where that got me. So I think apart of me still fears that. Not so much the fear and anger or frustration, now its more guilty and feeling of disappointing others and worrying about the damage, now that I know and fully understand how it  effects me.

Blood draws have never been an easy thing for me. I use to hate doing them at home, I preferred to go to the lab, I went to the same lab with the same techs for many many years, However I would put it off for weeks on end because I always had to miss school to go . I wouldn’t take the bus with my friends or get to play outside before school started. MY mom had to fight with me and later bribe me to go.  When my mom did my blood dot at home for the very first time when I was 13, I fainted. I actually fainted. Everything went black!  I had been watching the lab techs poke me and draw my blood for years and never felt squeamish. I later learnt, I am fine to do it on my own or the lab but not when someone else does it to me.

I have no problem doing my blood dots at home anymore and much rather prefer it. I still fast but I don’t have to wait. I get up when I get up, I have a shower or if i am in a hurry run my hands under warm water. Then I use my lancets and fill 2 or more circles , depending on how much blood I can get with out poking multiple times.  My clinic says its best to fast as it gives a better picture of a “true” level. It will be slightly higher when you are fasting. If you are not fasting they can have a false low. If I am unable to fast in the morning sometimes I do it between lunch and dinner. My clinic said the minimum for fasting is 4 hours. So usually right before dinner is a good time for me. Now that I am on nights I will tend to do them on my days off but If I have to do them on a night I am working, I sleep during the day when I get home and do my blood dot when I wake up to eat dinner with cole.

I then mail in my blood dot card and I have to wait between a 7 to 10 days to get an email back from my clinic with the results. If I was doing the MPKU diet, trying to conceive or pregnant than I would have to take the blood dot to the hospital for them to courier down. I think the results for that is between 2 and 4 days.

I still dream of a day when we have a home testing device like diabetics do. Would really make my life and many lives so much easier. However BIOmarin the company who was working on developing it where having trouble with the results in the lower levels and spent to much time and money on it and had to let it go.

It was a sad day in the community. I had originally wanted to wait to have a baby until we had a device. The wait for results scare me, if your sick, if levels raise, or something happens damage is already being done. However with a device I could know instantly and adjust my diet accordingly. I guess all I can do is to continue to dream and wish upon stars.

Until then I will do the best I can with what we have. At least my annual blood draw is done for another year!

 

 

 

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Levels, Managing the diet, That's my PKU life

When my levels where high

Posted on by Amanda Horner

When I was a pre teen and teenager I struggled with my PKU so much.  I am not exactly sure why I had such difficulty now. I just did not care. I didnt listen despite my parents pain and despite the education my clinic tried to enstow on me.  I didnt want to hear it. I was hungry all the time. I started cheating at 13. My mom made menus for me every night and put them on the fridge about what I was suppose to eat that day. I hated having those decsions made for me , and I was picky about the foods she choose. I am still picky and I go through phases and cravings. Sometimes you just want what you want.  I also was always told never to trade my food with my school mates also; pretty much drilled into my head. But At that age I wanted to try things.  I had to learn the hard way, food that you cant have when introuduced into your body become like a drug addiction. You want them and crave them and would do anything to eat them.  My first ” addiction” was Mr. Noodles , chicken flavour. It started in grade 7. I traded my fruit roll ups for a hole year of Mr. Noodles and when my mom gave me notes to go to the coner store as a treat I bought Sour cream onion sun chips, and mr. noodles.  I would eat it all.  My levels spiked so much in those years. In to the 20s, i think as high as 25 at some point.  I lied about it too. I didnt want to get in trouble, grounded, have privileges taken away or be yelled at.  Specially by my clinic staff.  I always denied it and said it had to be from something else. I did not realize how sick I was making myself. I started having so many side effects but I swore up and down they where not side effects and something else was wrong. I also truly truly believed this! I eventually ended up in BC Childrens’s hospital for 6 weeks while I was in grade 9 . I had so many tests done and was on my own. My mom could not come with me as I had young brothers and sisters at home.   While in hospital I was educated and taught about managing my diet on my own, taught about PHE and high levels and how to track my intake and measure my food. I got a scale and a food list binder to learn about the different values of food. I was also started on many different pills to treat my symptoms that I was getting from the high levels.  By the time I left the hospital my levels where stable and I was on 19 pills. It lasted for a while but then I started eating badly again. My second “addiction” was to minute rice. Something that stuck with me untill this year. I swore up and down they would never break me of that addiction. I was so sick of potaotes and pasta. I just love rice and it really was an addction. I litterly had to “quit” and then I would get withdrawls. I have tired to quit 3 or 4 times now. This is the longest I have lasted.

Though out the years I have also gotten “addicted ” to oreos, cookies, yam and avacdado sushi. I am still addcited to sushi and for the past 6 months i have been going out for sushi almost once a week. Well untill april. I went once in april , and twice now for may.

I only eat rice now as a treat if im out for dinner. But I cannot have it in the house. I had to get rid of it all. Cole hididng it on me did not work.

I was also admitted again for high levels at 17 years old. for 2 weeks. To be withdrawn and to drop my levels down. Each admission that I underwent they would drop my levels in the first 3 days , but not allowing me any food and just formula on the 1st day, on the 2nd and 3rd day I would only have my formula for breakfast, and then for lunch and dinner I would have formula and applesauce. I was so sick and hungry. I could not cheat cause they controlled my food and there was not food on the floor or aces to fridge. I could not just help myself. I had daily blood tests from my arm and tests. After my levels where at the lowest they would slowly start introducing food again untill my levels raised up to where they wanted them at.

 

Luckily those are the only admissions that I remember.  I can still remember how sick i was. The migranes, the anger, the low attention span, fatigue. Heightened emotions, vision problems, hair loss. Bleached out hair. Gastro intestianl issues like IBS and gastro reflux.  Then the anorexia, not because I wanted to be skinny but I did not want to eat anything. I would have such horrible stomach pain after eating that I stopped eating . In highschool I dropped down to 109 lbs at my lowest and had bleached out blonde hair down to my waist. I started to get alot of attention and it went to my head. I was also taking laxatives every day to help with the IBS but the hospital never told me when to go off them and i stayed on them for over a year untill my dr. caught the “oversight” so i was always malnutrioned and de hydrated.  I was bullied so much , pretty much every form of abuse I suffered at the hands of my peers atleast once and on an on going basis. I was so misrible and unhappy. The lowest self esteem and I hated myself.  There is no worse feeling then looking in the mirror and hating your own self. I do not no how I got so lost or how I let my self get to far away from myself. i am ashamed of my past and who I was.

I try so hard now to stay healthy but we all have our “ups” and our “downs” its a constant cycle. For me its very related to either my mood or my finaces. IF i am not working, then I dont have money for food, if i dont have food then eat it wrong foods or to much food because I cant satisfy my hunger and then I suffer and cant work. Making it into a cycle where I have to hit bottom to stop and build myself back up.

I have learnt alot about myslef and what happens to me when my levels are high. i learned to read my body and I can tell instantly when I have had to much of something. I am very sensitive now.  However even still I tend to over induldge or eat to much or the wrong foods even when I know I should stop. Like with Sushi, and about a year ago with Brown sugar oatmeal. That was an addiction for me as well that I had to ban from our house. Poor cole, having to put up with my food bans because I cant trust myself to have them in the house.  I had cravings for weeks after i “quit” that one too.

So now I am very careful about introducing new foods. I do go though patterns though where I only want certin things. Right now my pattern is corn pops with almond milk and low protein pasta salads for dinner. I think I have had pasta salad every single night that I work a night shift for the last month or more. However my last pattern was mashed potatoes, that lasted about 6 months. every single night…. cole really is sick of potatoes now and would be very happy to not see them anymore. But i keep them around to eat on my dinners when I am off and have more time to cook something nice.

I think I have an addictive personality with these cravings and bad habbits. I wonder if anyone else with PKU experiences this? Would it have ever happened If I never cheated or introduced new foods into my diet. Atleast I can say and be proud of the fact that I have never eaten MEAT!!! or anything that would be way way to dangerous for me liek that. I do no better in some areas. My problem is eating to much of what I can have .  I have never tried dairy, or meat, sea food or anything like that and I NEVER EVER willl! I have never really been off diet, even though I didnt drink all my formula as a teen I have drank all my formula every day for the last 8 years. I feel it soo very much if I miss it even by a few hours.  I feel so sick when I miss a formula that it seriously scares me. I have damaged my body in some ways perminity. I am told I lost atleast 1 IQ point from my high levels, I have more white spots in the grey matter of my brain but I think I am doing pretty good , im not slow and I went to college and now I am a nurse.

I still have problems with my stomach and insensitivities  I still have IBS and I still struggle with getting in enough water so as not to be dehydrated. I dont weigh or measure my food. I eye ball it. I have my ups and downs but I think im pretty on track.  Well atleast I am making a real effort to be. I am setting goals and working to be compliant and lower my intake and my levels. I am working towards low enough levels for pre conception diet and for my future. One day at a time. Every morning I wake up a fresh start. I will get there! I am way more positive about that.

I really feel for all the adults out there like me that I have met who have come off diet or are not on diet I do not now how they can survive on a day to day basis. I am so sensitive now I can pick up the changes in my body and I really do not like it. I do not like how it feels. IF anyone can learn anything from me or if I could teach any PKU family, new diagnosis or child it would be to not cheat.  TO listen, to be educated, to embrace it as a life style, do not be ashamed or feel left out. And to the parents , it does happen, its not your fault. Its our own. You did your best trying to teach us , but sometimes we have to learn on our own. I share my story because I hope to help those who have lost there way or those beginning out so they don’t make the same mistakes I did and heart it from someone like them that its not worth it! Dont make food scary or  punishment or take away the fun from good food! And make sure there is a variety. Maybe if I learnt to cook and bake ealier on then I would have done better. I had no variety and felt left out and hungry. I also ate alot of my meals alone. In my room. I cooked all my meals myself to.. Dont do that! make meals social family time! I enjoy cooking now and sitting down to eat with cole. Even if we are not eating the same. We eat similar he just has meat added to his. I like having choices and a say in what I eat. I like to be able to go to my low protein cupboard and decide what ” i feel like” so involve your PKUer in meal planning. Dont plan to many days a head. For me its easier to plan meal by meal then its not as overwhelming. If i plan out the day then get there and its not what I want I either wont eat it or I change it. Another good tip is to make a list of meals with values ( phe and calories) for each meal and place them on a fridge and then when its time to start cooking, pick one of those meals or see what you feel like from the list! I find this very helpful and makes it easier for me to stay on track :)

So thats my message for tonight, thank you for reading!

I hope this post helps even just one person!

 

 

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