Below is a typical and very personal exchange of questions when two PKU parents meet for the first time.

I learned this week that this happens in America OR in Norway.

It is unusual to get so personal with a stranger, but there is a bond that parents of rare diseases share. I felt this in Norway. It was automatic, even across cultures.

You get real, and you get real fast. There is no reason to dance around the painful facts. It is a part of connecting with your extended rare disease family. We learn so much from other parents through this very honest exchange, sharing our child’s and family’s story.

Here is how it goes:

“So you have a son or daughter with PKU?”
“How old was he/she when diagnosed?”
“Is it Classical or mild?”
“What is their daily tolerance?”
“Has that changed over time?”
“Do you count by milligrams, exchanges or grams of protein?”
“What formula do they drink?”
“Is your insurance/government covering the formula and foods?”
“How is he/she doing”
“Is he/she good about drinking their formula?”
“Is he/she good about their blood draws”
“How often do you do blood draws?”
“How fast do you get the results?”
“Is he/she staying on diet?”
“How are other kids treating him/her at school?”
“Are you noticing other issues arise?”

What usually follows is a conversation about the invisible issues. By invisible, I mean if you were to see the person walking down the street, you would not notice an outright physical disability.

But to family, close friends, and teachers, these issues are far from invisible.

These issues include: a high incidence of childhood diagnosed ADHD, impulsivity, mood disorders, depression, anxiety, brittle bones, difficulty with peers, difficulty organizing and executive functioning, persistent feelings of hunger, inability to focus, among more.

This is the reality of PKU.

We have a treatment, yes, a severe restriction treatment consisting of synthetic foods and formula. However, this treatment is not satisfactory. These kids and families are working so hard to do what their doctors tell them to do and they are still suffering.

We need more!

I got on my soapbox a few times the last couple of days in Norway and at first the parents were taken aback. I wondered if I had overstepped my bounds, or had become too emotional, or spoken too strongly, but then I saw that they felt the same way. By the end of my speech they agreed, saying “Yes, yes, this is all true! We do need better!”