Three Helpful Tips for Thriving with Phenylketonuria

Recently on Recombine, a website dedicated to providing up-to-date blog posts about planning a healthy family, a story popped up from a young woman sharing her experiences about being a new mother.

This 26-year-old mom, Elisa, has a loving husband and a beautiful baby girl and enjoys the fun things in life despite her phenylketonuria (PKU), a rare genetic condition that can seriously affect the nervous system if untreated.
I’ll get to three tips on how this mama survives and thrives with this rare condition. But first, a little about PKU.
Phenylketonuria is a result of mutations in the PAH gene. PKU causes a substance called phenylalnine in the body to gather in toxic levels. Since phenylalnine is obtained through diet, this means that people with PKU have to watch what they eat very closely. PKU can cause intellectual disabilities ranging from mild to severe, and it may cause seizures, developmental and behavioral problems, and psychiatric disorders.
Only one in 15,0000 newborns are born with PKU.

Adhering to a PKU diet right after being born can usually help prevent a newborn from developing the neurological and psychiatric symptoms of PKU. This restricted diet involves a low protein diet of mostly veggies and fruit. And a special amino acid formula that is phenylaline-free is required to make sure that protein needs are meet.

And, now, Elisa’s three important tips for thriving with PKU:
  1. Get used to eating differently than everyone else
Own your diet. Source:

Even from a young age, Elisa recounts that there was no hiding her different diet from her family. Her entire family ate dinner together every night, but no one ever made her diet into a big deal or showed her pity. This normalized her condition and made her more comfortable with it. Even as a mother and wife now, Elisa cooks different foods for her family and separate meals for herself. She has always had discipline and structure around her food choices.

  1. Resources and privilege do affect the level of care a person with PKU receives

Elisa talks about how, as a child, she was receiving some of the best care available to her. Her parents had the time and resources to pay for her to go to the PKU clinic at the University of Washington every few weeks to make sure her levels were good. Her parents had the money and time to buy and prepare Elisa a separate low protein diet from the rest of the family, as well as low phenylalnine formula to supplement her protein.

These are luxuries not all with PKU can enjoy. Not everyone has the time, resources, or money to enjoy these privileges to make living with PKU a more safe and stable condition. Elisa realizes this and is so grateful she received the care she did as a child. She also hopes that the PKU community will start advocating for insurance coverage of medical foods.

3.  PKU does not have to control your life
That’s something to celebrate. Source:

Elisa says that although she has down moments, she doesn’t let her disease control her or her outlook on life. She has never been one to play the victim, and if she cannot change something about her life, she quickly changes her outlook. Elisa does not let PKU define her. Some of her friends even forget she has PKU because her diet is such a small part of her life.

For Elisa, PKU is only a small part of who she is, and she gives one last piece of advice for those living with PKU: She stresses the importance of staying on a strict diet and remaining compliant.

PKU is treatable and any patient can have a normal and successful life if they adhere to the correct diet. If you want to read the original interview from Elisa, check out this page.

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