I’m a full-time working mom of 2 little girls and the wife of a really awesome guy.  We struggled through infertility and multiple attempts at pregnancy before having success with our very first IVF.  Stella Lee was born on Sept. 4th, 2009 and our world became more complete.

Our big surprise, Hadley Jo, was born a year and 2 days later on Sept. 6th, 2010.  Hadley was diagnosed with the rare disease, cystinosis, after a year long search for answers.

Cystinosis is a rare, incurable metabolic disease that afflicts 500 children and young adults in the United States and only 2000 worldwide.  As proteins are degraded within the lysosomes of cells, the individual amino acids that make up the proteins are transported from the lysosome to the cell’s cytoplasm via specific transporters. The transporter for cystine is defective in children with cystinosis, which causes the cystine to crystallize within tissues. This build up eventually destroys all the body’s organs including the kidneys, liver, muscles, white blood cells, eyes and central nervous system.  Cystinosis is a common cause of the Fanconi Syndrome, a renal tubular disease. By about one year of age, patients eliminate large volumes of urine and lose large amounts of salt and other minerals in their urine.

Our family is now complete and we are enjoying this wild ride called life!  This is my place to share and document our journey.  Thanks for visiting!