my life story

my life story

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my life story

June 24, 2009 in Uncategorized

Where to begin. I am 22 years old. I was diagnosed with classical pku when i was 9 days old. Growing up int he newborn screening era ive had a lot of advantages with my pku and growing up. It seems like now days it is getting way more advanced day by day. Cambrooke has been established, Biomarin is a huge group that helps us out, we have Kuvan and its been amazing so far, and all different types of therapies and medical advances that have made pku and the small daily struggles a little easier for some of us. Since I was little Texas has always had their small pku community and this is where i tell people, i would not change the fact that i have cpku at all....if it weren't for cpku i would not be surrounded but an amazing group of doctors, or friends, or have such a strong support network that will never leave me. I am happy that i have that and not many "normal"

1 Review of my life story

  1. Registered: Mar 18, 2006

    Posts: 0

    kernersville, North Carolina

    how fortunate you are… when i was born ( in nc) they didn’t do routine testing for pku so we didn’t find out until i was 8 that i had pku and then it was only because my younger brother who was then 3 wasn’t developing like a 3 yr old so they tested him and at the same time my mom had the presence of mind to say to them,” she’s having trouble in school, test her too.” that’s when we found out that both me and my brother both have pku. i’m something of a pku miracle because i wasn’t mentally retarded(my borther is) this was followed by a 2 week stay at the hospital where they were trying to develop a test to see if they could detect carriers of pku. they came in our room every 2 hours and stuck our fingers( me, my 2 brothers and 2 sisters mom and dad) they actually had to hold my brother down. the first time it was on little nurse then the next time it was that same little nurse and 2 big orderlies russ was traumatized( seriously he remembers nothing about it today) i was started on the diet about 5 yrs ago, it’s alweays been a problem for me to maintain good level despite staying on my diet religously. i had and still for the most part have next to no support, mhy family doesn’t even understand enough about pku to know what i can and can’t eat…it’s really more of a hassle than anything else. another problem that appears to be complicating matters is that i am a severe asthmatic and the frequent asthma attacks seem to be causing my levels to be alot higher than they’d be if i didn’t have to deal with asthma attacks everyday. i started kuvan about a year or so ago but still haven’t been able to add much more Phe my levels are low when my asthma is ok but that seems to be something that happens very infrequently. anybody have ideas or comments i’d love to hear(read) about it

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