Despite having an incurable disease, Sacred Heart Greenwich eighth-grader Grace Heffernan lives every day with a positive, optimistic attitude.  Grace suffers from Phenylketonuria (PKU), a genetic disease that increases the levels of an amino acid called phenylalanine in the blood.  These high levels of phenylalanine are catalysts for serious health problems, according to Ghr.nlm.nih.gov.  However, Grace actively supports causes that are working towards finding a cure such as a recent fundraiser for PKU research in New York City “Lifting Limits for PKU,” Thursday, October 25.

PKU is a rare disease that impacts ten thousand to 15 thousand newborns in the United States every year, according to stanfordchildrens.org.  Hospitals in the United States perform a PKU test on every child shortly after birth.  As a result, doctors are able to detect and treat cases of PKU shortly after birth.  Therefore the symptoms of PKU rarely affect the patient.  

However, not following the strict diet or taking the medications that are essential to living with PKU can result in brain damage, behavioral symptoms, failure to thrive, short stature, seizures, and intellectual disabilities.  Grace explained that the support of the people around her allows her to maintain her strict regimen.

“I have gone off my cycle multiple times, but friends and family have encouraged me to be strong and I realize now that if I do go off my diet, that there will be consequences,” Grace said.   

In her diet, Grace is not allowed to eat foods with large amounts of phenylalanine. These are foods high in protein, such as dairy products, meat, fish, chicken, eggs, beans, and nuts.  People with PKU also need to avoid the sweetener aspartame, which is found in some foods, soft drinks, medications, and vitamins.  Consuming these foods releases phenylalanine which leads to high blood pressure, according to treatments.aspx.

Throughout her life, Grace has learned to deal with the challenges of PKU.  With the support of her family, she has been able to change her perspective on the disorder and is hopeful for a cure.  

“PKU is something that I have had for a long time and I have gotten used to it but, sometimes I wish it wasn’t me who has it,” Grace said. “Sometimes I ask my parents why me out of so many people and they say because God gave this to you for a reason. Now my whole point of view changed and now I know if I stick to my diet then, I will be able to accomplish big things.” 

Although there is no cure for PKU, the Food and Drug Administration approved a drug called sapropterin dihydrochloride (Kuvan) for the treatment of PKU.  Kuvan is a form of BH4, a substance that helps break down the high levels of phenylalanine in the body of a PKU patient.  In order to be effective, Kuvan must accompany the PKU diet.  Even if the medication is helpful, it will not decrease the amount of phenylalanine to a completely normal level. 

The National Institute of Child Health and Human Development researchers and other scientists are currently exploring additional treatments for PKU including gene therapy which also breaks down phenylalanine and decreases the blood levels of a PKU patient, according to treatments.aspx. 

Organizations such as “Lifting the Limits for PKU” raise money to fund these experiments and find a cure for PKU.  Their event took place at the New York Athletic Club in New York City.  More than 380 people took part in a dinner, program, and a live auction, and a paddle raise. By the end of the night, the organization raised over six hundred thousand dollars.

Grace was thankful for the attendance of her family and friends and is optimistic about the future of PKU.

“I’m happy to have a great support system while going through this difficult disease,”  Grace said.  “It was nice to have everyone together raising money to help find a cure soon.”

Featured image by Jacey Heffernan ’21.