Managing the diet, News, Social Media, That's my PKU life

Rare Disease Day / So what can you eat?

Posted on February 28, 2021April 24, 2025 by Amanda Horner

WOW! It has been 18 months and 1 week since my last blog post and life sure has changed. Inspiration to write does not strike to often these days. Living and coping through a pandemic while raising my babies keeps me on my toes.

However inspiration has finally found me. How fitting is it that today is also Rare Disease day 2021.

In Honor of Rare Disease day I watched the new documentary about PKU called ” So what can you eat?” available on Amazon prime in America and Viemo.

This film is created by Jack Everitt A PKU adult. His Friend Liberty and other PKU community members such as our friends Lillian Isabella , Mark Edwards, Bianca Albanese, Lynn and David Paolella , Patricia Guthrie and more!

My first initial thought was how neat it was to see the faces to go with names I so regularly see on my pku Facebook profile friends list and in our world wide pku fb group. TO hear their voices to! I recognized many of my connections that I have followed on Facebook or Instagram for years. However never actually heard their voices. Like our dear Lynn! To me she has a beautiful accent!

I was able to gain access here in canada to the film through a screening by Ajinomoto Cambrooke, Inc . However I was only able to watch the first 20 mins of the film yesterday and only able to stay for 15 mins of the Q and A hosted by Lynn , David and the rest of the film crew after the screening. I signed up online for the zoom premier and given a access code for Viemo. I was sent a snack pack from Cambrooke of the Sea Salt Tortilla Chips and sample of the shake and cheese wit a recipe for ” Shake N cheese Queso to eat during the preimer. With formula samples to come later.

In the first 20 mins I was already blown away. I had gone into the movie with mixed expectations as It had been generating buzz in my facebook group for a few weeks now. Mixed from ” One big cambrooke commercial” Poor me attitude” etc etc. So I was disappointed for the negative reviews for a film I had been anticipating and excited for. I knew right away I was reserving my judgment as I am one to form my own opinions . I am very glad I did.

In the first 2o mins I danced between relief, justification, acknowledgement, inspiration and YES !! Thats me.

It was so amazing to finally have something geared towards the adults of my generations. Those in-between you can go off diet at age 7 to diet for life to hey look how far we have come and what’s available now, This should make your life easier. These Adults where speaking my language. Everything they said was so relatable on such a different level and brought to your attention. Creating awarness. The things no-one wants to talk about on facebook groups because we get bashed for scaring new families. Sometimes as an adult with PKU we feel with out a voice , with out a support system and even jealous of kids today for having it so much easier. It always seems new advancements and support systems are geared towards youth today. Everyone wants to help kids. To improve their quality of life and give them better access. PKU marketing is geared towards families, to newly diagnosed, or to youth and teens. Or maternal PKU. Because when your pregnant with PKU you are special and paid attention to and supported during your pregnancy. But soon as baby is born the shift goes back and you aren’t seen for as often, in touch as much, and coping and learning to parent and often the diet is the easiest thing to slack on . Its also rather difficult to drop right back to your regular phe tolerance and restrictions after spending the last few months being able to eat almost anything!

So here finally, was my story being shown on the screen. Being made to given attention to. In Other peoples words, lives, stories and experiences that mirror my own. Relatable. and Inspirational.

As I watched these adults share their stories that resonated so personally to me It was like watching and listening to my friends. I was knodding and shaking my head yes yes yes!

Then Lillian came on and she said something that struck me hard.

“When someone without PKU looks at a menu, they’re trying to decide what they want. When someone with PKU looks at a menu, they’re trying to decide what they can have.”

and I wanted to cry. I never even thought it about it that way or put it into words but this was exactly accurate. This is what I do too.

I knew I wanted to keep watching. I had to pause the film and come back to it today and I am so glad it was still available to me today for a few more hours.

I actually began to take notes as I watched because I knew I was going to need to reflect.

So many things that jack, mark, and Lillian said I agreed with. Jack mentions that he just gave up. He wouldn’t eat. He had to disassociate food with events and celebrations. It was just easier sometimes to just not eat. And I found myself thinking to my highschool years and that is exactly what I was doing to. I would not even eat food with my family. I often hid in my room with my food. or i JUST didn’t eat. I didn’t take school lunches anymore. IT wasn’t worth the questions and the comments. People use to make fun of the way my formula looked or smelt so I wouldn’t drink it. I was separated from my peers, my family and social gathers. Parents of my friends didn’t want to deal with having to have something extra for me. In elementary school I had to go to the nurses room or the teachers staff room so they could give me my formula from their fridge and they had to watch me drink it. In highschool they didn’t do that for me anymore so I didn’t take it. Not realizing to years later that not spreading out my formula through out the day equally was causing me damage. Jack also spoke of this.

Jack , Lillian and mark and other adults mentions not knowing the difference in yourself when you are off diet or on diet until you have been back on it for a while. Then you look back and your like oh. Not remembering the birth of your siblings, or something that happened. a milestone or a memory. Its like its blacked out. I often see photos from my childhood and dont remember it happening.

Lillian spoke of throwing her formula down the drain. I have done that soooo much as a youth. For years. That was my normal. Now as an adult I know how good drinking my formula makes me feel. If i miss it or an off even by a couple hours I feel sick. I never skip a formula now.

Managing PKU is a full time job. It requires so much “extra” so much thinking and planning. you just cant go out and do something or eat something or go somewhere. your always thinking what can i take with me that doesn’t need to be cooked or heated. What transports easy, where can i eat? how can i mix my formula? Sometimes you need to pack an extra bag if your going to be away from home longer then expected. I carry a case of formula in my car for those moments.

Meal planning and cooking is time consuming. It can take 45 mins to cook an PKU meal between calculating, prepping ingredients, cooking, plating , serving etc. Sometimes I just dont have the time. specially when I have a family to cook for. A daycare to run, babies needing attention or to be fed. I end up having to cook multiple meals, or feed my family first and eat later . If I dont have something low protein ready to grab or if i get to hungry Its the easiest thing to just not to do it and make a poor choice and grab something high cause its quick and convenient. knowing full well i will pay for it later. Sometimes I just dont have the patience to deal with all the extra. I want something Quick and filling and dont want to be hungry 30 mins later all over again.

I love that the crew touched on the realness and the rawness of the diet. That everyone mentioned is it healthy? Jack talks about always being in a calorie surplus because of the carbs and how hard it is to managing micronutrients on this diet. Having to watch what we eat but not having control or choosing what our numbers are, That we have a set stagnic tolerance we have to work with in. We cant change it. This spoke to me cause I am currently struggling to get active and healthy and loose weight. Liberty speaks about ” is this healthy for my body” She can think about the whole foods, the proteins, the raw materials, and if something is nutritional. Her over all health, Not just PKU. Something that is healthy for PKU is not necessarily healthy for someone with out pku. Our food is full of sugar. I love that they mentioned this.

Jack talks about how most people are healthy later in life then not so healthy as they age but wanting to go in reverse. I felt like he was talking to me. I cheated. I lied. I didn’t follow my diet, I ate things I should not have. I had really high levels. Now that I am a mom and older and wiser I want to do better, be better and be healthier now. I want to learn to be active and healthy and be a role model for my children. I have a more active role in my health now and my activity. I have a better understanding and I want to get into shape .

Liberty’s struggles with being hungry, noticing her mood fluctuations, dropping a few F bombs, shaking her head and grimacing her face while drinking formulas was real and true. She is able to recognize her emotional relationship with food. That she enjoys food and looks forward to it and to her its enjoyable and an experiance. With PKU you are eating cause you have to. Its edible. Its healthy for us. we have to eat. Not because we enjoy it.

I really apricate Liberty’s frustrations with doing all this prep work and cooking and the time it takes and how things like pancakes dont always turn out. Or after all is said and done and it just not as enjoyable as you hoped. Leading to disappointment in foods and meals. I have cried many tears over wasted time over dishes that havent turned out and I’m just so hungry. I throw it all away and grab a box of real rice.

I have banged cupboards, slammed doors, thrown pots, broken bowls in frustration. Dropped my fair share of swear words. But that is life. That’s real.

When Liberty talks about how the go to is pasta I laughed. I alternate between pasta and potatoes every night. 4 days a week is pasta. There is only so many ways to dress up pasta! There is only so many sauces we can have, or things we can add to make it filling. I do have to say though Pasta is my favorite low protein food. it is my go to and the most filling. I eat a lot of pasta and my waist hates me for it.

I loved that the adults where real , raw open and honest about their struggled with mental health, anxiety, fatigue, and how bad or high foods make you feel intoxicated.

The point of view from the food developers about the difficulties of providing low protein food and producing quality foods with healthy raw materials vs productablity was an interesting perspective that I hadn’t realized before. I liked hearing from them and their stories just as much as I did the PKU adults.

I am glad the film included families, parents , advocates, and normal people. It was diverse and all connected. Every perspective was important to share.

I am so glad to have seen this film. That is exists. I hope those watching it come away with a new appreciation, a new understanding and I hope the film reaches those not familiar with our way of life and teachers them something new.

I too hope that one day , I wont need to give my “PKU monologue ” and when I say I have PKU , they will get it. That it will be come as normal as saying I have diabetes and having an “oh,ok!” reaction. That they just get it.

I would love it if my non pku family and friends would watch this film for me. It is able to say all that I cant . It has give adults like me a voice. Inside and outside the community.

I hope that jack and his team go on to make it a series and feature different types of PKU like Maternal PKU. OR feature patients on different treatments and their experience’s. Giving us all a voice . Seeing it on the screen is so different then reading it and easier to make it more relatable and real. Real people real life. I hope that by bringing our stories to the media and to film connects it with every day people and spreads awarness that creates change.

For everyone who watches it, is another person who gets it and makes it a little less rare.

To Jack and his team.

From one PKU adult to many others, Thank you , Thank you so much.

Baby Number 2 / Maternal PKU journey 2, facebook, Madelyn, Managing the diet, MPKU Journey!, News, Social Media, That's my PKU life

PKU Awareness month means, Maternal PKU awarness too!

Posted on May 1, 2019May 1, 2019 by Amanda Horner

For #pkuawarenessmonth I will be mainly focusing on the miracle and wonders of maternal PKU Syndrome. All of my life I was told I would never be a mother. Hearing those words does not make the dream die, it does not take away the wish. It does not take away the hope. It does not prevent you for wishing and praying. As the years melted into each other the want never went away. In 2006 I was told for the first time, it was possible. That it was alot of hard work, that it was not for everyone. Well neither is motherhood, pregnancy or parenting. Hard work does not scare me. When the want is there, you can do anything you set your heart and mind to. I relate to those who struggle with infertility and the want to be a mother but for other reasons. I relate to the heartache and the deep deep passionate and consuming want. I relate to the heart work. Though its not doctors tests , injections and treatments for fertility. Its keeping my blood , my body, my brain and my uterus from being toxic.

For many PKU women , its months and months of planning. For many its returning to diet and treatment. Its many months of preparing the body. For preparing your brain. For many its withdrawing from toxicity of high phe levels and side effects. Its adjusting your body to major food changes, to major life style changes. How do they do this?

With the recommended maternal pku pre conception diet and treatment. It is highly recommend that any women with PKU who wants to have a healthy sucessful pregnancy and healthy baby follow a even more restricted treatment then normal , to get their phe levels even lower into pre conception range and keep them there for 3 to 6 months prior to conceiving and then the duration of the pregnancy. I didn’t have this chance. I did things back wards, looking back its totally way harder. both of my pregnancy’s where unexpected and unplanned. But very very much wanted. I prayed to god, I prayed to my deceased grandparents, I prayed to my grammie in heaven. I talked to her regularity. I dreamed. I wished. I wished on ” the first star I see tonight” when the clock stuck 11:11 am or pm. When I had something lucky. I hoped. I held on. I pleaded, and I bargained. Please god, let it be me one day. Let it be my turn. Bless us. Choose us. I promise I will give it my all. Please let it happen one day. Please change his mind, please want him to want this to.

Both times I found out I was pregnant my levels where very high. I was not off diet, I wasn’t compliant. I made allowances. I ate rice, and mashed potatoes, and corn and hash browns. Vegetable sushi, peas, beans, and sooo much rice.

I indulged. I did not weigh my portions. I did not keep track of my intake. I made allowances, and made excuses. Its to hard, Its not fiesable, its not sustainable, i’m to hungry. Its only me that suffers the side effects. Im not hurting anyone but myself. I will do better tomorrow. I will eat less in the morning so I can eat more later.

Having to crash my levels down with in a week, having to re learn the diet, re learn how to cook low protein recipes, how to measure everything. How to track everything. All at once, plus come off anti depressants , anti anxieties and pain medications all at once. If I could change one thing, I would have done better at looking after myself, managing my PKU and actually planning for my babies I would have. But you know what they say about could have, should haves? and if you change the past you might not have the same present or future. I would not change my life for anything.

For I am a mother.

The fact that my daughter is here is truly a miracle in its self, Life is a miracle, growing, creating and giving life is a miracle. Pregnancy is a miracle, but then add my PKU on top of it.

Now here I am about to bring another baby girl into the world. The weight of it is not lost on me. Through all the highs and the lows, through all the tears and sleepless nights, through all the struggles and all the ups and downs, through the smiles and the I love yous, The way my precious girl looks at me, I wouldn’t trade a thing for this life ive been blessed with.

Its not always easy and sometimes we get lost in the moment and we forget where we have come from and anxiously worry about tomorrow. But its worth it. Its worth every single moment. Id gladly pay for every second through this life and eternity.

There is no bond like that of a mother and her child. The bond I have my daughter is everything I ever dreamed of. I cannot simply express in words the depth of my love for her . I see it reflected back in her eyes and its so powerful. It is deep and beautiful and powerful. The way she holds my hands, touches my face, the words that she says, the joy she experiences , the happiness she is and gives, that she lives and shares. Its worth it all. Now that she is such a fluent talker, her vocabulary really floors me. She talks better then some 4 and 5 year olds I know. She really expresses herself, she speaks her feelings and her thoughts and the wow the stories she tells me. The way she tells me she loves me, and how i am the best swimmer ever! make me burst with pride. How even though she is a very strong willed , independent, vibrant , busy 3 year old, she still needs and wants her mama. She still wants our cuddles and our talks, our hugs and our kisses. I will always give her all of me.

It excites me to hear her talk of her baby sister, the stories she tells me about how she will be a big helper, how she will hold and change ” her baby” and all the things babies do and how her baby is in my belly. How every day she tells me what she wants to name her baby. It makes each day that I struggle with this damn life, this damn diet, and these damn foods worth it.

Each day when I have to test my blood, and drive it to the lab, Each day when I sit down at my computer to record every gram of food I have eaten, when I plan my meals in advance, when i make my food, prepare my formula. I am reminded why. My daughter is why. Both of them. For every high risk OB appointment, every midwife appointment, ever extra ultrasound, trip to Vancouver maternal fetal medicine, every email to dietitians and specialists, every panicked phone call, every kick and roll. Every thing I am doing its to give my children the very best start in life. To ensure their health and ensure their futures. The literately weight of their life hangs souly on me , and what I eat.

They say being a parent is always putting someone else before you, and I do that by watching and weighing and counting every single thing I put in my mouth every single day and more. I do it because I am so much more then me. I am their mother. I am a parent. I am a partner and a wife. This is just one part of my life and my daughters. This is how I give them the start in life they need and my care and my devotion and my love and my hard work grows with them and my role changes. From the day they are made, to the day they are born. To all the years to come, I give them all of me.

If anything having PKU has taught me so many life lessons. It has taught me hard work and sacrifice, it has taught me patience, it has taught me how to be strong. It has taught me how to give, and how to be a voice. I use my voice in hopes of inspiring others. To help even one person know they are not alone. To provide support, to provide education, to spread awarness.

Many wonder why I do this year after year . Why I share my story so personally. Why I am so open, why I blog, Why I volunteer for CanPKU , Why I plan fundraisers and events, and why I post soooo much about PKU.

Well every year that goes by I am grateful for medical advancements , for changes in treatment and new research. For being alive and being healthy. For new born screening and I am proud to be able to use my voice to spread awareness . For each new friend I’ve made through out the year , for each new follower who does not know my story , for each new baby born , for each new diagnosis , for each new family effected , and for each new maternal pku mother…I share for you. If I can help just one new person by sharing , that is one more person who feels supported , one more person educated. And 1 by 1 more people will be aware and pku will be less unknown , less scary and less rare !

Remember, together we are all #PKUSTRONG

Happy PKU Awareness month! thanks for following along. I look forward to connecting with many of you this month through social media. Through Facebook lives, though live questions and answer videos, through Instagram and Facebook. Please feel free to share, write me a question you would like me to answer a topic you wish me to cover!

facebook, Social Media, That's my PKU life

Do what you love.

Posted on November 12, 2018 by Amanda Horner

I am not a professional blogger. I am not even that good. I cant spell well and I make a lot of typo’s. Even when I use spell check it does not always pick up my grammar mistakes, run on sentences, wrong punctuation or lower case vs upper case mistakes.

I dont charge for content, I dont ask subscribers to pay to follow my blog. I do not advertise. I do not sell advertising. I dont have any sponsors. I do not know how to do any of that or understand how it works. Much of it I would not want to do anyways.

That being said, I have been writing this blog for nearly 6 years. There have been many highs and many lows. I can go a very long time in between posts. I think I wrote maybe a couple blog post in all over 2017. I have already written more then that in the last few weeks .

I stop for a while, I pick it back up again.

I loose subscribers and followers. You cant please everyone.

I change the look and feel and sometimes the name.

The blog gets a make over when the mood strikes me.

I have written blogs on several platforms over the years, many I stop or give up or delete. This blog I have invested way to much into to delete it and loose all my content. I did have to delete my facebook page ” Amanda Cosburn- PKU Adult and Advocate” with over 800 followers because of a few bad people trying to make my life miserable . But I came back.

I have been PKU Tri-Unity , Project PKU, PKU Proud, My PKU life, PKU Amanda and many other names.

I have had, MSN, Yahoo, Tumblr, Hi-5 , Live journal, dear diary, friendster, myspace, facebook, twitter, pinterest, instagram, google plus and various other social media platforms.

I have memberships and profiles on pku.com pkuboard.info and many others. I subscribe to the listereve and the pku news newsletter.

I have had various websites over the years where I have attempted to have my own pku website or recipe spot.

I created the First groups for PKU on most social media, I created the very first PKU group on facebook as soon as i joined back in 2005. There was no other groups. Now I admin multiple groups and our first group has over 6000 members world wide.

So why do I keep doing it?

Why do I share so much of my life online?

I didnt meet anyone else like me with PKU till I was over 13. It was lonely. I have always had my ups and downs. I have struggled and I have done well.

I figured if by sharing my story, one more person knew what PKU was that would be a positive.

If by sharing my thoughts, feelings, struggles, triumphs and my daily PKU life that someone out there might not feel so alone. Someone might learn from my struggles and avoid them. That it might help a teen out there like me who struggled, or a PKU women who wants to be a mom. To the person or parent struggling to know they are not alone.

I am not a brand. I am not trying to sell anything.

I am just me. Doing what I love, to help others and to help myself. I write because I like to not because im good at it.

I write out my thoughts to help me think through them and learn from them. I talk things out and I journal. I record so I dont forget and so others have acess.

Anytime someone writes me to say they relate, or they understand it makes it all worth it.

I just want to help.

When I share my blog posts on facebook it is not to get more followers, its because i have a space to write it out in full and long so if anyone wants to read it I dont have to repeat it or summarize it. I share it to start conversations. So maybe I can connect with someone else who is like me , or to help someone else.

I share it reach out , start a conversation or debate. To share education, information, events, latest news and more.

I do it for you and for me. I do it because I love it and it has helped me grow.

I hope it has helped , I know it has helped. I hope I can continue, even if people stop reading.

BC Residents and news, CanPKU, facebook, Managing the diet, Social Media, That's my PKU life

PKU Strong.

Posted on November 9, 2018November 9, 2018 by Amanda Horner

Alone we are rare, together we are strong. PKU Strong.

What does it mean to be PKU Strong?

It means when faced with challenges we stand tall.

When a parent first receives a PKU diagnosis with their newborn, They stand up to the challenge and immerse themselves in our community. Learning everything they need to do to make our children strong, happy, healthy and normal. They mourn a little bit but then they learn that normalcy and a healthy life is still attainable and it pushes them through all the fears and dark days.

A parent raising a PKU child and just trying their best to give them the best start in life.

The PKU parent who spends hours and hours daily to log food records, take blood tests on their own child, makes formula, orders foods, weighs and portions their child’s food.

The PKU Parent who carries a scale in their purse.

The PKU parent who worries every day when their child is away from them that they are being fed properly or making the right choices for themselves.

The PKU parent who cries at night when their child is sick or cant get the last of their formula in.

A PKU child learning not to share their foods with friends or take food from others. Learning that what they eat can effect their brain development. Learning the yes foods and the No foods.

The first time they can explain what PKU is when asked. The First time they take their own blood dot or measure and weigh their food.

The brave face we put on every time we go to clinic and meet with our PKU teams.

The PKU teenager who is learning not to be peer pressured or not to be ashamed of their PKU. They learn to embrace it as a part of them and dont let it hold them back.

The PKU young adult when they transition away from their childhood clinic and team and start attending the adult clinic.

Every time a PKU’er tries a new PKU food or formula.

The PKU women who wants to become a mom’.

The PKU Women who experiences a Maternal PKU Pregnancy.

The PKU women who is raising children that do not have PKU.

The PKU adult who are learning how to feed their families a regular diet and cook or bake regular food.

The PKU’er who is learning to manage their diet through school, work , travel, and life.

Every time we take a level. Or go for our annual PKU blood draws.

When we learn to bake and cook and count the PHE in everything.

When we go out to eat and dont cheat or take the easy way out.

When we dont give in to temptations and cravings.

For those of us who have fallen off track and had to learn hard lessons.

For those of us who have fallen off and picked ourselves up again.

For those of us who constantly struggle to be compliant and maintain good PHE levels.

For those of us who just really hate this life and this diet but we do it anyways.

For those of us who want to give up or give in but try again tomorrow,

For those of us who dont let it break us. Don’t let it define us. Don’t let is consume us.

For those of us who have suffered high level effects and lost jobs, failed classes, failed relationships, lost hope, suffered physically and mentally.

For those of us who battle mental illness .

For those of us who each fight our own PKU battles daily.

For those of us who are trying, learning, pushing, accepting, and doing.

For those of us who walk this journey, whose life has been changed because of PKU.

For those of us have learnt and grown and developed skills because of our path and our journey,

For those of us who are a better person from learning and living with a rare genetic disease ,

that is PKU Strong.

I am not PKU Proud, I am not proud of a disease I was born with , that if their was a cure, I would take it. I am not proud I struggle , I am not proud that I fall down and get back up constantly. I am not Proud that I cheat and I eat things I am not suppoes to. I am not proud that I do not have the willpower to stick to my diet 100 % of the time. I am not proud that I make mistakes and I suffer from high levels a lot of the time.

I am Strong because I dont give up. I am strong because I dont let it hold me down. I am strong because I dont blame my life failures on having PKU. I am strong because I use my voice to advocate for others. I am strong because I want to help people avoid my struggles and challenges. I stand tall from the lessons I learnt and my past experiences with my diet and life. I am strong because I have seen both sides of the coin. I am strong because I have had bad high levels and suffered. I am strong because I have been very healthy with great levels. I am strong because I grew a life , safely and healthy .

I am strong because I keep going. I am strong because I dont give up. I am strong because I use my voice to improve the quality of life for others.

I am strong because I live this life. I have gone to school, I have changed careers, I have traveled, I have worked outside my home. I have a family, I have friends, I have a community. I have a team. I have a village. I am a mother. I am a wife. I am a friend. I am me.

I am PKU Strong.

News, Social Media, That's my PKU life

23 and Me

Posted on October 14, 2018November 9, 2018 by Amanda Horner

Unless your living under a rock, you should have heard by now of the genetic testing kit you can order online and have delivered to your home. 23andMe is a privately held personal genomics and biotechnology company based in Mountain View, California. It is a saliva test that you can do at home. You spit into the vials they send you and then you mail it back to their lab to be tested. It tests your ancestry and Genetics. It gives you your risk assessment and carrier status. The Genetic health reports can predict how likely you are to develop something like cancer, Parkinson’s, Celiac, Alzheimer’s .

It gives you wellness reports. Some examples on the website are : alcohol flush reaction, caffeine consumption, deep sleep and genetic weight. With various others.

It has trait reports such as ; bitter taste, cheek dimples, early hair loss, cleft chin, and many many others.

The last section is the carrier status . This is the biggie. It has various major diseases listed like Maple Syrup Disease, cystic fibrosis, and there it is 33 from the top.

PHENYLKETONURIA

with the description read as ; 23 variants in the PAH gene; relevant for Irish, Northern European descent

Now, here is where my problem lies.

As many of you know, I have been a vocal advocate for PKU and a avid member of the online community. From writing this blog, to creating and ad-mining many facebook groups, support groups and that I help CanPKU lobby in government and in PKU treatment. I created the very FIRST PKU group on facebook when facebook itself was very new. Today our group 6,000 members. We get requests to join our group daily. Multiple requests. So much so I have a team of volunteers now to help monitor the group and admission requests. we have turned on the feature where every member request has to answer questions about PKU so we dont allow spammers or frauds.

However we have been inundated with request from people who have taken this damn test and now fear they or their child have PKU . and after doing research on the internet they are convinced they must have it .

** Let me be clear, I am more then happy for people who use this test in a responsible way and if they learn that they or someone in their family is a carrier. That useful knowledge to have. I am all for supporting Carriers and their family, as each carrier is more potential for another child born with PKU , and a reason for the parent to insure screening and results are given in a timely manor. Since newborn screening is optional in many countries, if someone knew they are a carrier , they will make sure to opt into newborn screening.

What bothers me, is people who dont understand this test. Who do not follow up with a medical team to have the results interpreted. The people who think ” oh maybe this is why i have headaches when i eat meat ” or ” oh i have bad BO and an upset stomach when i drink milk, so i must have PKU”

This post is not directed at people who discover they are a carrier of PKU and are seeking actual information, support and education. This post is directed to the perfectly healthy people that have been normal their whole lives who take this test and fear they have PKU. That even when they have come to our group, and asked questions, messaged an admin for clarification . That when we have provided information , explained the difference between carrier vs patient of PKU and what the statistics are they still argue us. When we clearly explain you cant be diagnosed through a test like this to actually have PKU. PKU can only be diagnosed with newborn screening and that you may only be a carrier if this test comes back positive.

We try to educate every one we can as we strive by the motto, that ” one more person who understands PKU is one step forward from being rare and unknown”

These are the people that I am talking about. They have let fear guide them and they are convinced they have PKU when they dont. They dont seem to understand that PKU is tested for at birth!!!! That yes, this test can tell you if you are a carrier, which means you could have a chance if your partner is also a carrier of having a child with PKU. It does not mean your child does have PKU and you never knew it. WE have had so many people message us that their child has autism or ADHD so they must have PKU too.

There are many forms of PKU. Though it may be possible to mis-diagnose or delay a diagnosis of hyper PHE or mild PKU , it is very rare. The consequences would not be as severe with these forms of PKU, HOWEVER Classical PKU cannot be diagnosed later in life. Classical PKU is very serious. If not diagnosed at birth ; before the baby is 6 months of age the baby would be completely mentally impaired with irreversible brain damage.

If they are just finding out now that they have PKU or their child had it and was a delayed diagnosis they would have serious impairments. Serious handicaps and serious brain damage.

I have had full out arguments from these people who are clearly adults living totally normal lives other then maybe an upset tummy when they eat to much of a food, or a headache when they eat gluten , or some other stupid reason.

We try to explain to them that for their age, they would not be just facing a diagnosis now, that they are more then likely just a carrier. With no symptoms. That if their was a chance they had Mild PKU or Hyper PHE this test cannot diagnose it. IT can only tell them if they carrier of the gene. Only newborn screening can diagnosis so if they really want to be sure to follow up with a doctor.

We offer them education and information on being a carrier and what the statistics are and how it all ” works” but it has gotten so argumentative and even down right rude sometimes we have had to completely block people.

Now we have updated our group description for new members to see before they even try to request. I have even updated the questions members need to ask before they can be added to the group to ask how they received a diagnosis and explain they cannot be diagnosed with PKU with a 23 and me test or any saliva test.

Yet we still get multiple request a day. It has created much confusion and fear in the public. While I understand that these kinds of tests may be helpful and interesting for the individual, on a larger scale I really feel they need to be monitored by your medical team , or at least you should be required to go over your results with a doctor before you take to the internet or panic. The level of miss information I have seen from this test is scary . Specially when dealing with such serious life altering diseases. it has lead to fear, panic, mis understandings and wrongful information being given. I really feel you should only have medical advice from your doctor. I try my hardest not to give medical advice. I give advice based on my own experience and information and always advice they follow up with a medical professional.

I myself strongly believe in being informed and having all the information and tools available to me, i believe in informed consent and power over my own medical needs. I believe in being educated and understanding. I dont support misinformation or fear mongering.

I get the draw behind these tests. I would want to know my own results. Specially when these tests arent regularly offered to healthy people until there is a reason to think otherwise, or in most places they are simply not covered or cost to much if you dont have insurance like places in the USA. Then the information is seeked out .

I however choose to educate myself , be informed and understand that you cant and shouldn’t diagnose yourself based on these results. That if a result concerns you please have it interpreted by a medical doctor. Just because something comes up dosent mean you actually have it. Yes you could be a carrier but please dont panic and start getting on doctor google and joining support groups , or trying to diagnose others. It is insulting to those of us who deal with this daily, or have been diagnosed at birth, had our parents taken through the diagnosis’s having their world rocked, and raising us with treatment , to living this life. We know what PKU is. We know what can happen when your not on diet. We know how it effects our brains. So when you try to join our group because a saliva test told you that you have pku- but your brain is normal and healthy and you have eaten meat and drank regular milk your whole life and you are not in a wheel chair or need someone to help you with regular activities of daily living ( like dressing yourself or feeding yourself ) your going to make a lot of people upset. Then if you go telling people you have PKU and you dont, your going to give the public a false representation of what living with PKU is like. You are going to un do our hard work to be recognized and improve our quality life and get out treatments funded. Your going to teach people who dont know any better that its not that bad, its not that serious, its not that big of deal and that we dont need help.

PKU is already so rare, and considered a orphaned disease. Many in our community have dedicated their lives to improving treatment and quality of life for loved ones with PKU or for themselves. One of our goals is educating the public on what phenylketonuria is really , so that we can gain the support of the public , medical professionals, scientists, researchers, pharmacologists, and others . SO they take notice and get interested enough to make a difference. To develop new foods, new treatments, possibly even one day a cure. This is why we cannot accept anything that can jeopardize this. Such as someone misunderstanding tests like these.

So please, if you or someone you know , has or is going to use this test, Ask them to please seek interpretation from a doctor and education. Or !!! Even better, if you have a result that you are worried about, request further testing from a doctor before you self diagnose or try to treat yourself.

thank you for listening!

Events, News, Social Media

Grayson’s Story! – For Rare Disease Day 2016

Posted on February 29, 2016February 29, 2016 by Amanda Horner

This is my friend’s Chad Farquharson and Wayne Mcgill Son Grayson. I am sharing Grayson’s’ Story in honour of #rarediseaseday 2016.

Grayson again like me, Has a #Raredisease. He lives with Maple Syrup Urine Disease. Also Known as #MSUD

Like #PKU , #MSUD is a rare genetic and metabolic Disease. Not nearly enough is known about #MSUD nor is there enough research and support.

MSUD is even more rare and sometimes fatal compared to PKU. MSUD statistics show that it effects 1 in 185, 000 people.

Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of certain enzymes (branched-chain alpha-keto acid dehydrogenase complex) required to breakdown (metabolize) specific amino acids in the body. Because these amino acids are not metabolized, they, along with their various byproducts, abnormally accumulate in the cells and fluids of the body. Such accumulation can cause a variety of symptoms including lethargy, irritability, poor feeding, abnormal movements and a characteristic odor of maple syrup in the earwax (cerumen), sweat and urine of affected individuals. In addition, if untreated various neurological complications including seizures, coma and brain damage may occur. Failure to promptly detect and treat MSUD can lead to life-threatening complications. However, the disorder can be successfully managed through a specialized diet. Even with treatment affected individuals remain at risk for developing episodes of acute illness (metabolic crisis) often triggered by infection, injury, failure to eat (fasting) or psychological stress. During these episodes there is a rapid, sudden spike in amino acid levels necessitating immediate medical intervention.

To learn more about #MSUD please watch Grayson’s story below at the attached youtube link or visit one of the website links I have provided.

Grayson’s Story.

https://www.youtube.com/watch?v=pxLe6Z8Q5wE&feature=youtu.be

Rare Disease Day 2016

Posted on February 29, 2016 by Amanda Horner

In honor of ‪#‎rarediseaseday‬ 2016 I am going to share a personal story with you.

Many of you already know that I have PKU. To the point your probably all sick of hearing about it. And over the last 40 weeks you have been flooded with information about ‪#‎MaternalPKU‬ or ‪#‎MPKU‬ and how PKU affects my pregnancy. But what you may not know, is that until I was an adult, I was told that I could never have children.

I was told that due to my PKU, that I could not carry a normal healthy baby. That If was to get pregnant the chances of my baby being born mentally handicapped , disabled or deformed was extremely high. At the time it was recommended that women with PKU do not have babies . At the time it was recommended abortion and adoption.

I have always wanted to be a mother, I dreamt of being pregnant and having a baby someday. I tried to convince myself it didn’t matter and I told everyone I could not.

At age 18 , the BC PKU Adult Clinic sat me down and told me about all the advancements and research and that one day if I worked really hard my dreams could become true. I could not accept it at first.

You see for a women with PKU we must be so very careful and follow an even more restricted Maternal PKU diet. It is recommended that you have low blood phenylalanine levels for up to 6 months before even conceiving a baby. As whatever your blood phe levels are , they are about 2.0 times higher in the uterus. If your levels are not in a safe range in yourself, it created a toxic environment to grow a baby. Leading to deformities, mental disabilities, handicaps, small head syndrome, learning disabilities, heart issues, and even death. To be able to carry a baby to term that is healthy and safe , a PKU women must follow a much more restricted diet. Do blood tests 2 to 3 times a week, and much much more. AT the time , to me it sounded impossible. I was already having enough trouble trying to manage my own PKU low protein diet and struggled with paying for my special medical foods. I did not follow my diet as closely as you need to, I suffered as a teenger by eating things i should not , not weighing or recording my intake and didn’t even do regular blood tests. I suffered from high levels and made myself very sick.

After meeting Cole and falling in love, I still tried to tell myself it was not a good idea to ever have kids and tried to not think about it. But the clinic had opened that door and my heart dreamed to the point of self torture. meeting Cole and falling in love with him changed my life and set me on a much better path. He inspired me to do better, to get myself healthy and to love myself too.

in 2008, Cole and I where invited to a maternal PKU seminar in vancouver where we met other women my age, and we met Nicole Le Vecque. She had recently given birth to a beautiful baby boy. She had a sucessful PKU pregnancy. I stared at her in awe and this perfectly healthy baby boy! She inspired me and showed me dreams can one day come true. This is when I really started to accept my PKU and notice how much it was really affecting me and my health. This is when I first started to advocate for PKU and improving qualtiy of life. It was shortly after I organised my first walk and became involved with Canadian PKU and allied disorders.

Over the years life got in in the way and I doubted my ability to have a healthy pregnancy. I battled with many health issues, including chronic major depression, anxiety and multiple physical injuries. I lost all faith that we would ever have children.

I never gave up on my advocacy work and my dream still lingered in my secret heart.

Year after year being involved in the community, working with and having the support of CanPKU I watched my small rare community and world around me expand. Doors and opportunities opening and awaiting me!

Over the past 3 years life has changed so much, so has PKU treatments , research and there has been improvements to the quality of life for people like me.

One of the biggest was the low protein food funding we where awarded by Terry Lake. Having the food covered and not struggle to buy my low protein foods that help keep my brain healthy was a huge step forward towards my dream of one day being a mother. having these foods on hands and not having to worry about how i would make the diet took a huge weight of my shoulders.

Fast forward to today, A rare day. Leap year 2016 and #Rarediseaseday and I am 41 weeks pregnant tomorrow. Dreams really do come true. I am‪#‎PKUstrong‬. I am ‪#‎PKUproud‬. PKU does not run my life, I run my PKU and I am happy , healthy and about to have my life long dream come true before me! I cant wait to meet this beautiful baby to be and start this next chapter of our lives together.

A huge shout out to everyone who has supported me over the years and through this journey. I could not have done this with all of you. To Cole, I love you so much more then words can say!

Happy Rare Disease Day everyone!
www.canpku.org
https://www.raredisorders.ca/
https://globalgenes.org/
http://www.rarediseaseday.org/
www.npkua.org