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