I found this deleted post in my archives from over 2 years ago that was never published. so im deciding to publish it now. I believe it is from a guest blog post i wrote for a friends blog.
30 years ago in 1986 I was born with a genetic metabolic disease called Phenylketonuria , also known as PKU. PKU is when someone like me, is born with out the enzyme that converts one of the amino acids in protein called phenylaline into tyrsoine . Because I dont have this enzyme, phenylalaine accumulates in my blood and is toxic to my body and brain. When the level of PHE ( phenylaline) is to high in my blood, it causes serious side effects and risk of brain damage or mental disabilities PKU is diagnosed through new born screening at birth. It is a simple heal poke blood test. All babies in north american are screened for at 24 hours old. Results take 2 weeks to come back, if you are positive, you are to start life long treatment to protect your brain and body. IF you are not diagnosed or it is missed, by 6 months old most babies are completely handicapped. However, when diagnosed, babies who are treated can grow up happy and healthy like me! Treatment consists of a very restricted low protein phenylaline free diet . Which is mostly fruits and vegetables and medical food s that dont contain protein or PHE . As well as a special medical drink called formula that is full of good amino acids, vitamins and minerals and protein with out PHE . There is also one pharmaceutical drug that has shown to help different levels of PKU . Also we monitor our blood levels of phe very regularly and we have a number range we must stick in to avoid side effects. This range is 2-6 mg/dl . My levels have always been on the higher side of 8 to 11 mg/dl because I am flexible with my diet and dont always eat things i should and eat more of things i should not.
Our treatment of Diet for life – that consists of the medical foods and formula fruits and vegetables is very restricted. We have to weigh and measure every single thing we eat. We need to weigh it to the gram and then count how much Phenylaline is in the food, down to the gram. AT the end of the day, we need to meet a daily tolerance. If we are over or under it can have side effects. to high and it causes impairments , neurological and behavioral and sometimes physical. It can cause mood swings, depression, anxiety, trouble focusing, retaining information, concentrating, and can cause you to loose IQ points. You can also experiance tremors and headaches , this is just a few of the possible side-effects. TO low and you can become catabolic and your body starts to break down its own protein, which also can release phe into the blood and effect your brain.
PKU treatment and lifestyles have changed so much and come so far since I was born. Up until I was 18, I was told I would never have a baby. Because my PKU would make my uterus toxic and cause serious side effects to my unborn baby and myself. That my baby could be born deformed or handicap or die.
When I was 18 and luckily for me, medical advice changed, and we now knew that it was possible for women with pku to have a normal happy healthy baby. If she worked very hard and followed a even more restricted diet, and was closely monitored . This was called the maternal pku diet. it was recommended that if a women with pku wanted to have a baby she had to follow a preconception diet and treatment plan for 3 months before getting pregnant to lower the risk and toxicity to the fetus.
This was the news I had always secretly hoped to hear, as my deepest more secret dream was one day to be a mother myself. Even with this news, i still didn’t fully believe because I didn’t have all the tools i needed to be sucessful at the maternal pku lifestyle available to me , and I didn’t have the confidence in my ability to comply.
In 2014 thanks to Health minister Terry Lake and myself and a team of PKU advocates was able to get funding for our medical foods and this helped with me being able to be more complaint with my special diet and get my body healthy so one day i could realize my dreams.
In may 2016 i went off birth control to ready my body to one day have a baby. over 10 years on birth control i expected that it would take my husband and i a while to conceive and thought we would have fertility issues. low and be hold i got pregnant June 1st. i did not find out until June 17th 2016. I was not on the pre conception diet yet so i was terrified. My phe levels ( the level of phe in my blood) where not in the safe range. My level was 11 mg /dl when I first found out we where expecting.
I called my special PKU clinic in Vancouver for help. My medical team who monitors and treats my PKU is located in Vancouver and is the only clinic to treat pku in adults. It consist of 2 dietitians who support me and guide me with my diet and treatment plan and my blood levels. a nurse, and a specialist doctor. The first thing I needed to do, was get my blood levels down to safe range. I did a home blood test immediately. i take my blood from my finger and place it on a card and courier it to the newborn screening laboratory in Vancouver where they read the results. Because pku is so rare, we dont have a home testing device like diabetics do.
The best way to get levels under control is to reign in my diet control. TO eat right and measure and weigh my food and track my phe intake. i need to be very careful about what i was putting in my body now. I started getting back on track and doing regular blood tests. While pregnant I did blood tests 3 times s week and drove them to our local hospital so they could send them to Vancouver and i got the results back quickly enough that if there was a issue or to high we could correct it before damage was done to my baby.
I was followed by an OBGYN and a midwife. I had specialized ultrasounds to check for deformities and issues with baby’s heart and brain. Because I did to amazing on my diet and controlled my levels, my baby never had any side effects from bad pku levels.
Had i not gotten my levels down before organgenisis started in the fetus they baby would have been deformed, had a very small head, been mentally handicapped or still born.
so having PKU myself, I needed to catch my pregnancy and my diet before baby was 6 weeks along. I got my levels down 3 days after the first positive pregnancy test. I was 4 weeks along. I kept my levels in the safe range for my whole pregnancy.
I was also followed by a maternal fetal specialist in Vancouver at the high risk pregnancy clinic and that is where i had most of my ultrasounds and fetal echo done. we even saw our baby in 3D though we asked not to know the gender. A pku pregnancy is medically considered high risk , even though I was doing so well.
A very interesting phenomeon occurs in maternal pku in the second trimester. Once the baby is able to eat and break down protein in its liver, if it has the enzyme i am missing it takes my protein and breaks down the phe and takes it out of my blood. So My levels get even lower , to keep my levels in range, i get to increase my tolerance of what i am able to eat. So while I was pregnant, for the fist time in my life, I got to try new foods that i have never eaten before with out worrying about the protein hurting me. My regular daily tolerance is 7 grams of protein from food, and 90 grams from my medical formal that doe snot have PHE. By the end of my pregnancy, i wa sable to eat 40 grams if protein from food! However since as soon as my baby was born, i would have to give up all these new foods I was very careful about what i introduced so I wouldn’t miss anything or struggle after my baby was born. So i added things like rice, potatoes, oatmeal, chow mein noodles, bread, beans , ice cream , and cookies! I did not want to eat things like meat and dairy and sea food that i would need to stop eating as soon as baby was born. I found it challenging to eat this much protein , where many would be so excited i was anxious and apprehensive about these new foods and protein that i had spent my whole life avoiding because they are dangerous to me. i found i really did not like a lot of the tastes and textures.
At 33 weeks my obgyn was so impressed with my progress that My midwife was given the go ahead to deliver my baby when he or she was ready to be born . My baby was born 10 days over due. A happy healthy baby girl who weighed 6 lbs 11 oz, the same as her mommy did. My dreams had finally come true. As i had always dreampt of a baby girl. In all my dreams i saw a brunette baby girl with her mommies curly hair and her daddy’s smile. I saw this little girl bouncing on his shoulders while walking along the beach. She was and is everything i have ever drempt about. I am so happy and blessed to have experienced a healthy pregnancy and have such a beautiful intimate birth. Then to have my perfect baby girl too. My world feels so complete. she is healthy. I worked so hard to ensure that. Her brain developed normally and she is growing and thriving and now is almost a year old. She is walking and talking and actually doctors say she is advance for her age and size.
Since giving birth and coming back to my regular diet and back down to my normal intake I have struggled. I am having post partum anxiety ( not depression) I get panic attacks and I have not been eating well or weighing and tracking my intake anymore. Life has been so busy. I dont always find time to manage my diet or weigh and measure and prepare my meals. I am so hungry and eating over my recommended tolerance. I have recently learnt that the first year for a mom with pku is very hard to adjust back. I though to would be so easy since i did so amazing while pregnant. My diet lacks in nutrition and whole protein and is high in carbs and starches and sugars so I struggle with my weight and eating healthy and staying full. I thought my daughter would give me the intensive to stick to my restricted diet so i can be my best for her, but i have defiantly had my ups and downs. My levels after birth took a while to come down, and where high for the first few weeks, then they dropped and then went back up again. They have been mostly around 11 or 12 . Finally this month I was able to get at 7.5 so a bit closer to range. I try everyday to do better. At least I enjoy my special medical formula and drink it everyday. I find it hard to do my meal preps and baking of my special foods so when i am hungry i have something pku friendly to grab and i end up making bad choices and eating something quick , like minute rice. I am working with my clinic again to get back on track and maybe loose some weight so i can be active with my daughter and family and lead by example for her. I dont ever want her to struggle with food or weight or activity like I have. Most days I am cooking 3 different meals for my family, as my daughter has a milk protein allergy and my husband has no allergies and them my PKU . Since my baby girl has started solids and we do baby lead weaning i have noticed a huge learning curve for me about regular foods and diet needed to keep her healthy. I dont look forward to the day i have to explain my pku to her and why mommy cant share her foods when she tries to share with me. I sometimes wish I could eat the same healthy foods as her. luckily she is not a picky eater like her mommy. She is a great eater and does not have pku like me.
I tell myself everyday is a new day, and another chance to do better and try harder and fix what i didn’t due yesterday. Today I have already had my formula and some low protein bread i baked from scratch while she had her toast.
I look forward to watching her grow, helping her thrive and finding new ways to teach her and challenge her. She has taught me so much already and filled my life with so much joy and happiness. I am so in awe of this little person , and that i was able to grow her and nourish her and give her the best start to life I could.
I will be forever grateful for advancements in treatment for pku. But PKU is still not well known so i hope this opportunity to educate others on pku will be well received and that maybe now one more person knows about pku, they can share it with someone the to. The more we know , the more we can research and evolved pku care and thus improve quality of live for pku people like,
to learn more about pku or to read my journey in maternal pku and to motherhood please visit my blog about living with pku. Follow the tab called my maternal pku journey to read more about my pregnancy.
thank you for taking the time to read this post.
Amanda Cosburn and Baby Madelyn.
I am PKU Strong 