Copyright 2016. Danielle's Hope. All rights reserved.
My name is Kamilah Jones and my daughter, Danielle Jones, was diagnosed with Alstrom Syndrome (a rare autosomal recessive disorder) on February 7, 2006 (at the age of four). The discovery of this disorder was a process that began in the summer of 2005.
I actually would not have known where to begin if it had not been for my sister who was home one afternoon watching the Discovery Health channel. The show’s feature was on rare disorders and highlighted the Bardet-Beidl Syndrome (also known as BBS). My sister immediately called me and said, "I'm watching this show and their talking about a disorder that reminds me so much of Danielle and its called BBS". I immediately began a search online for more information and found the website for the National Organization for Rare Disorders (also known as NORD).
I contacted NORD and they sent me a report on BBS. It was at the bottom of this report that they listed other rare disorders that are similar to BBS, which is how we discovered Alstrom Syndrome. I began to read over the description of Alstrom Syndrome and told myself, "This is it!" I immediately made an appointment with our Pediatrician who referred us to UNC Hospital's Genetic and Metabolism clinic for further assessment, consultation, and testing. Danielle was the hospital’s first patient and their introduction to this very rare disorder.
Our lives since that point has consisted of many medical appointments to her Primary Care doctor, Opthalmologist, Endrocrinologist, Nephrologist, Hematologist, Cardiologist, ENT (Ear, Nose & Throat), and Nutritionist. Danielle is continually progressing in her education as she receives specialized instruction at the Governor Morehead School for the Blind & Visually Impaired.
Out of these many years of experience with having a child with special needs, there have been many obstacles, frustrations, and tears. There were times that we could not afford to provide Danielle with the assistive technology that was critical to her growth and development because it was too expensive for our budget and not covered by our insurance company. Her numerous medical appointments placed a financial strain on our family as co-payments and gas quickly consumed most of our savings and money that was budgeted for other bills.
In all of this, I believe that God has brought my family down this path, and believe wholeheartedly that everything happens for a reason. I've carried that thought with me since my childhood, and still carry it to this day. At the beginning of this journey I thought to myself, "Why Me?"...today I think..."Why Not Me?!?!" Birthed out of my pain and frustration was a passion to help other children like Danielle and the families that are caring for these special children.