PKU: Can’t Take Away My Life, My Family, or my Hope

I am 51 years old and I have phenylketonuria. My disease is also known as “PKU” for short.  Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine. I was diagnosed at the age of 18 months. By the time we got to a clinic, one of only two in the state of New Jersey who understood the disease at the time, the doctors there thought there was no chance that I would ever live a normal life. In fact, they thought that I would not make it through the next year.

I did, however, make a turnaround after seeking treatment elsewhere, at Boston General Hospital. I was able to get on the right track and though my life hasn’t been “normal” I’ve been able to grow and live, despite my limited diet.

Today, I have two healthy daughters, who excel at the top of their class in school, one in high school, one in college.

I look forward to the future with optimism! Now the are so many other things that can be done for this condition, one being a medication that is now used for PKU called Kuvan. I tried this back in 2009, but did not respond to the treatment. Another method is PegPal, an injection. The future looks hopeful. There are lots of advances to look forward to.