Rare Disease Report

Advocacy Story of the Week Garage Donates Car to Tyrosinemia Family

DECEMBER 16, 2015
Rebekah Harrison and James Radke
The Network of Tyrosinemia Advocates, Inc. (N.O.T.A.) received a vehicle donation from Jon Miller Car Care Center. The vehicle, a 1999 Honda Accord LX, found a new home for Connecticut couple Noelia Pena and Dioni Coronado who needed assistance in managing their daughter Laura, who was diagnosed at birth with Tyrosinemia type 1. Laura is the couple’s third child to have been diagnosed with tyrosinemia type 1 but the only one who is still alive.

What is Tyrosinemia Type 1?

Tyrosinemia type 1 is a genetic disorder characterized by the lack of the enzyme fumarylacetoacetate hydrolase that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs. Symptoms include failure to thrive, diarrhea, fever, melena and vomiting.
 
Tyrosinemia type I affects approximately 1 in 100,000 to 120,000 births. If not diagnosed and treated properly, the disease can lead to liver failure. Currently, the standard treatment is a restricted low-tyrosine diet as well as Orfadin, an approved orphan drug which prevents the build up of toxic byproducts associated with tyrosine breakdown.

A Long and Sad Family History Struggling With Tyrosinemia Type 1

Noelia, a registered nurse, and Dioni, an electrician, were newlyweds living in Mayagüez, Puerto Rico in 2010 when their daughter first Gabriela was born. Although her routine newborn screenings were all favorable, 4 months into her short life Gabriela was admitted to a local hospital where she succumbed to an undiagnosed disorder, believed at the time to be dengue fever.
 
Their son was then born in 2011. Once again, newborn screenings suggested a healthy baby but his parents soon noted respiratory issues. Adrian was hospitalized several times in Mayagüez with high fever, difficulty breathing and other symptoms. Showing no improvement, he was eventually transferred to a more specialized hospital in Ponce, Puerto Rico. After a full battery of genetic testing, Adrian was diagnosed with tyrosinemia type I, but with limited treatment options available in that country, his condition continued to decline. In October of 2012, he was transferred to Yale Hospital in New Haven, Conn. and placed on the emergency liver transplant list. However, at this advanced stage his liver was too damaged and within hours of his arrival in Connecticut, Adrian suffered a cerebral oedema. He died in the arms of his parents.
 
Noelia and Dioni returned to Puerto Rico, determined to start a family. In April of this year their daughter Laura was born, and all standard newborn screenings came back normal. This time, Noelia and Dioni requested more specialized metabolic testing and Laura tested positive for tyrosinemia type I.
 
Treatment Availability - Living in the Wrong Place at the Wrong Time
Noelia and Dioni found it very difficult to get medication and the special formula needed to meet Laura’s nutritional needs in Puerto Rico. Their health insurance created barriers to proper treatment as well. Noelia was searching the internet in her few free moments, making contacts in the tyrosinemia community, when she found the Facebook page of the newly-formed Network of Tyrosinemia Advocates (N.O.T.A.).  N.O.T.A. immediately went to work advocating on behalf of the young family, connecting them with treatment options unavailable to them in Puerto Rico.
 
Inspired by their new support network, when Laura was just 2 weeks old, her parents made the decision to leave their careers, friends and family and relocated to Connecticut, entrusting the care of their daughter to the doctors of Yale. 
 
Upon their arrival in New Haven, Noelia and Dioni established a home and purchased a used car with their limited savings. However, the car proved to be unsafe, and once this news reached N.O.T.A. president Jon Miller, he was compelled to help. Jon is the owner of Jon Miller Car Care Center of Tuckerton, N.J. When a long-time JMCCC customer traded in her well-maintained Honda for a newer car, Jon knew he had the right vehicle for Laura’s parents.
 
On December 2, 2015, Noelia and Dioni made the trip to Tuckerton from New Haven and were presented with the keys to their new car, compliments of N.O.T.A. and Jon Miller Car Care Center.
 
Their transition has not been an easy one, but as Noelia reports, “. . . absolutely worth the effort. Laura is now stable, and her treatment has been progressing successfully. Our family is adapting to the change, and thanks to the help of many people, today my family is doing much better.”
 
According to Jon Miller, "This experience demonstrates how people in the rare disease community can come together and make a difference. I am grateful for the opportunity to make a difference. We are weak as one, but together we are strong." 
 
For more information about N.O.T.A. and tyrosinemia type 1, visit http://notacares.org/
 
 


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