What does PKU mean to me?
To me PKU is all about community. We all consider ourselves one big family. We are a community of patients, Medical prefessionals, advocates, and loved ones. We are banded together by our desire to make life better for PKU patients and to one day find a cure.
Growing up with PKU- I was diagnosed at 2 years old and put on diet upon being diagnosed. I grew up in Southern California. I saw Dr Koch yearly. My mom had to write down everything I ate and mail it in to the office on a regular basis. I was taken off diet at age 6. From that point on except for a brief time when I was 16 I ignored the fact that I had PKU. I finally returned to diet at age 52 when my granddaughter was born with PKU.
Pku runs deep in my family. My brother age 61 (In December) has PKU. I of course have PKU, I am 59. Two out of three of my grandchildren have PKU I have a cousin that has a daughter with PKU. Growing up with PKU had a profound effect on my family but not in a traditional way. In high school I was doing a project that involved researching my family tree. It was at this time my mother told me I had a brother living in an institution in Michigan. My family took a trip out to Michigan and my sisters and I met him for the first time. After that PKU once again fell off my radar until I finally returned to diet.
I think the hardest thing about PKU is staying on diet. It was hard being off diet for so long and then trying to stay on and knowing I could cheat.
I often say “I am humbled and extremely appreciative of the countless people within the PKU community that work tirelessly to make our lives easier and to advocate on our behalf as well as to try to find a cure. The best thing about PKU is by far the people and the COMMUNITY
If I could go back in time and talk to the 15 year old me I would say. “You don’t have to be on diet;you don’t have to take your formula;you don’t have to learn how to manage your PKU but what would you been able to accomplish if you had?”
My earliest memories were of my visits to Dr Koch’s office and how he made me feel so at ease with that big smile of his. I remember they would paste electrodes all over my head and perform an EEG. I felt like Frankenstein.
The first other person I met with PKU was my brother. It was overwhelming. My only thought was “Why him?”