When Jennifer Payne was born in 1973, she was diagnosed with a rare disease: phenylketonuria (PKU). This genetic disorder is typically screened for at birth. This early screening process is critical for this disease because it doesn’t take long for it to cause severe effects without proper management. The good news is that with management, phenylketonuria symptoms can become a thing of the past.
Phenylketonuria (PKU) is a type of metabolic disorder affecting the enzyme phenylalanine, which builds up in the body and can cause serious problems. Normally, phenylalanine is broken down, but a mutation affecting the PAH gene prevents this from happening in patients with the disorder. Prompt treatment is essential to avoid major complications. Symptoms of phenylketonuria include small head size, low birth weight, an unusual musty odor, pale skin, behavioral problems, intellectual disability, heart issues, seizures, and mental disorders. All of these symptoms can be prevented with proper and timely treatment; phenylketonuria is routinely screened for in newborns for this reason. The primary management strategy is a highly controlled diet that is low in phenylalanine. Supplements may also be considered. Most patients eventually go off the diet when they reach adulthood. Some older patients may still have trouble managing the condition later in life. To learn more about phenylketonuria, click here.
It might seem like managing this condition can be simple, and sometimes it can. But what if something goes wrong? In Jennifer’s case, she found that as a young adult she needed to continue managing her diet closely in order to control her disease, but instead of helping her, the health care system got in the way and began to try to prevent her from getting the treatment that she needed to continue to live a normal life.
With “The Making of Justice” Jennifer intends to document in extensive detail the challenges that she faced when she tried to get back on the highly specialized medical diet that she needed in order to prevent the appearance of major problems, like brain damage. Unfortunately, Jennifer is not alone in facing barriers to treatment access.
If you would like to support this project, check out its Kickstarter here.