Patient Power®
Get Email Alerts!
Health Topics
Search by Keyword:
Search by Health Topic:
View all Health Topics >
Click here to visit the Clinical Trials Education Center

Juan and Paula Cuba

Submitted By: Juan and Priscilla Cuba on 02/24/2011

The search to fulfill their full potential

Living with the unknown phe
Babies born in the United States are screened for Phenylketonuria (PKU) through the routine newborn screening within a few days of their birth. In 1984, even though Puerto Rico was already a U.S. territory, newborn screening for PKU was not implemented yet. Because of that, Juan and Paula’s parents were unaware that their twin babies born during that time had PKU. 

Within a few months after their birth, both Juan and Paula were both struggling with their health. Juan at three months old, weighed less than when he was born. He had problems with his intestines and often threw up and had severe diarrhea. Paula had seizures and rashes very often and was crying all the time. 
Unknown to their parents, the cause of all these were the effects of PKU. People with PKU are unable to metabolize an essential amino acid called “Phe,” which is found in most foods. If these foods are consumed, Phe builds up in the blood and can be toxic to the brain. The high Phe levels were affecting Juan and Paula immensely.Babies born in the United States are screened for Phenylketonuria (PKU) through the routine newborn screening within a few days of their birth. In 1984, even though Puerto Rico was already a U.S. territory, newborn screening for PKU was not implemented yet. Because of that, Juan and Paula’s parents were unaware that their twin babies born during that time had PKU.

Within a few months after their birth, both Juan and Paula were both struggling with their health. Juan at three months old, weighed less than when he was born. He had problems with his intestines and often threw up and had severe diarrhea. Paula had seizures and rashes very often and was crying all the time.

Unknown to their parents, the cause of all these were the effects of PKU. People with PKU are unable to metabolize an essential amino acid called “Phe,” which is found in most foods. If these foods are consumed, Phe builds up in the blood and can be toxic to the brain. The high Phe levels were affecting Juan and Paula immensely.

Search for a better life
When the twins were 5 years old, their parents decided that they wanted to move to the United States in search of better services and opportunities for their children. Since 11 months old, both Juan and Paula had already started therapy for special needs children and their parents felt that they would find better care and education in the United States. Although their father, Juan, had a successful career in Puerto Rico, he made the decision to move the family to the U.S. within a year, with or without his current job. Luckily, he was able to convince his company to relocate him to Chicago, IL. Their mother, Priscilla recalls that for they basically left everything behind in Puerto Rico, only knowing the apartment address in the U.S. and not knowing anything else about Chicago when they made the move. 

The mystery disease killing their brain
When they finally reached Chicago, they were able to make an appointment at Children’s Memorial Hospital with a neurologist. The twins were 6 years old at that time and they were very quickly diagnosed with PKU at the clinic. Their parents were devastated, not only because of the diagnosis of a rare disease but they were distraught that they were unaware of this for the last 6 years. Have they known earlier, they would have been able to control their children’s “Phe” levels, which was damaging their children’s brains. But at that time, they have taken so much protein in the last 6 years that there was already a lot of damage done to their brain due to the high phe levels. 

Moving on
Despite the sadness and pain, their parent Juan and Priscilla decided that since the damage had been done, they needed to be strong and move on.  They immediately put the twins on a strict PKU diet and PKU formula. This continued for a year and despite their persistence and efforts, Juan and Paula’s Phe levels did not drop. Additionally, they were very resistant to the formula and PKU food choices and both dramatically lost a lot of weight. After a discussion with the clinic, their parents and staff decided to take them off the formula and diet. Although their parents still monitored their protein intake, they slowly disconnected from the PKU clinic as there was very little the clinic could do at that time.

Back to the clinic
In early 2009, Dr. Barbara Burton at Children’s Memorial Hospital started an outreach program at her clinic for adults living with PKU who were no longer in active treatment. Through that program, Juan and Paula’s parents were able to reconnect with the Hospital and learned about the new treatment options for PKU, including Kuvan, the first FDA approved treatment for PKU. Although their parents were aware that KUVAN may not be a miracle cure for the damage that has already been done with the twin’s brain, their parents wanted to give it a try. 

Within three months of taking Kuvan, both Juan and Paula’s phe levels dropped dramatically. More importantly, their parents are able to witness dramatic changes within their cognitive and social behavior. 

Juan, who was unable to speak in the past, could now repeat words. Additionally he is more aware of his surroundings and appears to be happier and calmer than before. He currently lives with other special needs adults in a house and participates in a day program where he also works. 

Paula currently lives in a special needs agency and has more severe brain damage compared to her twin brother. Despite that, her parents also noted drastic cognitive and behavioral changes after she started on Kuvan. She is started to “explore” more and seems more curious of her surroundings. At the special needs agency, they joke on how she is keeping everyone very busy with her new curiosity for her surroundings. She is also happier and appears to be smiling more recently.

Fulfilling their potential
Their parents, Juan and Priscilla have both worked very hard to make sure that their children, despite having PKU, will receive the best treatment and care so that they can fulfill their full potential. Priscilla has always been an advocate for her special needs children and is currently a “parents mentor” for the Special Education District of Lake County.

More Powerful PKU Patients >>