Meet my latest HCU Hero – Eirean Bennett from Lupton, England! Today is Eirean’s 16th birthday. Happy Birthday Eirean!!! Eirean’s Mom, Jessica, reached out to me and asked me to share her story. She was diagnosed with classical HCU at age 5. She had her lenses removed at age 7, and is partially sighted. Eirean…
Author: therarerunner
HCU Heroes – Nicolas’s Story
Meet Nicolas from Slovakia – my newest HCU Hero! Nicolas’s Mom, Eva, reached out to me and asked me to share his story. She tells me that he was diagnosed at 6 1/2 years old. At the time, he had poor eyesight, behavior problems, and was lagging behind. After being diagnosed with Homocystinuria, he was…
HCU Heroes – Pam’s Story
The following blog post was written by Pam Penrose about her HCU journey. Pam was born in Long Beach, California in 1957. There was no newborn screening at that time. Newborn screening first debuted in the United States in the early 1960s, and has expanded to countries around the world, with different types of screening…
HCU Heroes – Samantha’s Story
Meet Samantha Mozdzen from Kenora, Canada – my newest HCU Hero! Samantha was diagnosed with Homocystinuria at the age of 2 1/2 years. The lenses in her eyes are dislocated, she has some slight learning delays, and she experienced seizures at the age of 2. Despite her late diagnosis, she is doing really well. She recently became…
HCU Heroes – Leah’s Story
The following blog post was written by Sabrina Mayes about her daughter Leah. Leah was diagnosed with HCU as a newborn in the state of Alabama, and started treatment as a baby. She is B6 non-responsive and has both a CBS definciency and MTHFR mutations. I’m happy to share that Leah is doing amazingly well….
HCU Heroes – Sienna’s Story
The following blog post was written by Allison Thomas about her daughter Sienna. Sienna was diagnosed with HCU in 2009 as a result of an eye exam. The Thomas family is very active in the HCU community. They’ve created a Facebook support group called Homocystinuria . They are also in the process of setting…
HCU Heroes – Thiago’s Story
This is my latest HCU Hero – Thiago. This story is still developing, and I will update this blog as more information is provided. Thiago is from Brazil, and his mother, Simone, first reached out to me on April 15, 2013 – right after the bombing at last year’s Boston Marathon. While we may speak…
HCU Heroes – Jason’s Story
The following blog post was written by the Fasano family about their son, Jason, who was diagnosed with Homocystinuria this past year at the age of 17. It continues to amaze me how often HCU goes undiagnosed! The Fasano family live in Massachusetts – not far from the start of the Boston Marathon. I’m thrilled to…
HCU Heroes – Jessica’s Story
The following blog post was written by Jessica Karnes about her HCU journey. I met Jessica in 2011 at the 1st ever HCU Conference in Denver, CO. Since the conference, she & I have remained in touch as Facebook friends. She’s had a tough road the last few years with broken bones & a terrible…
HCU Heroes – Carson’s Story
The following blog post was written by Dana Hunt about her youngest son, Carson Brady Hunt, who was born with a very rare kind of HCU that was not detected through newborn screening. When Dana shared her family’s story, she told me that at 3 months old Carson was admitted to the hospital for a…