Sunday, April 13, 2014

HCU Heroes - Ariella's Story

The following blog post was written by Joy Brown about her daughter, Ariella, who was diagnosed with HCU at the age of 12.  Joy reached out to me this week to share Ari's story.  I was so touched to read Joy's words about the challenges Ari has faced, and I am SO very honored to dedicate one of my 2014 Boston Marathon miles to this amazing young lady! 


              My daughter Ariella is surely a HCU Hero!  Unfortunately, Homocystinuria was not detected at birth through the normal infant newborn screening that is done in New York.  To our surprise, Ari was not diagnosed with this metabolic disorder until the age of 12. Therefore, Ari has suffered much damage to her body as a result of no treatment.  We were shocked and devastated that something so significant can go unnoticed for so many years.  Ari has had two eye surgeries for both eyes for lens dislocation.  She is not eligible for artificial implants; therefore she wears special contact lenses in addition to glasses.  Ari has undergone treatment for scoliosis, and also needs to use custom made orthotics for her feet.  Ari receives special education services in school, goes to speech therapy, and has attended physical therapy and occupational therapy.  Though, the biggest challenge for Ari is the language delays she has incurred and the learning disabilities she has developed as a result of improper brain development, that I have been told is linked to HCU.  

               As a parent, it is an innate motivation to protect your child from harm and fix what is not right.  The guilt was overwhelming that for twelve years of feeding my child a diet of milk, chicken, cheese, and grains, foods one would believe were healthy and the building blocks of growth and wellness, turned out to be exactly what was breaking my child down.  My only wish was to be able to trade places with Ari and steal the HCU away from her.  Reality told me that this was not possible.  My only option was to move past the guilt and become a proactive advocate for my child. 


               Today, Ari is a young lady.  She is now 17 years old and a junior in high school.  Ari is the middle child of three.  She has a 21-year-old brother and a 14-year-old brother, both who do not have HCU.  I am elated and relieved to report Ari is doing quite well.  Her levels are in check and she is moving forward.  Over the past five years we have battled many problems together.  The first being diet.  Many adjustments have been made, and lots of experimenting has led to a plan of eating that is functional for Ari.  Balancing medications, vitamin therapy and formula continues to be a task.  The anticipation of monthly blood draws and results has become routine.  Though, the biggest battle, that is ongoing, is educating those who do not understand what it is like to be live with HCU. 

      
         I admire my daughter Ariella for her strength, her will power, and her motivation to overcome the many challenges of her daily life.  She has demonstrated the courage and character of a true hero!  I love her dearly and I will stand beside her no matter what comes her way!



If you'd like to make a donation to NORD's HCU restricted research fund in honor of Ariella, or another HCU Hero, please stop by my fundraising page for the 2014 Boston Marathon:

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