On February 2, 2014, our beautiful daughter Analynn was born. She appeared to be perfect in every way: ten fingers, ten toes, and a smile that could light up a room. Little did we know she was fighting a losing battle on the inside. As she grew, we started to notice her eyes began to cloud, her head was larger than usual, and her posture was beginning to curve. After about four months of appointments and consultations, we were finally referred to a geneticist. On Friday, December 26, 2014 – our beautiful little girl was diagnosed with MPS-1 Hurler Syndrome.
MPS-1 Hurler Syndrome is a rare metabolic disorder that affects 1 in every 100,000 births in the United States. Essentially, people with MPS-1 are unable to produce the alpha-L-iduronidase enzyme. This means that someone suffering from MPS-1 will be unable to break down and recycle used Mucopolysaccharides (long chains of sugar molecules that are essential to the building of connective tissue throughout the body). The inability to break down these used materials causes them to store inside the cells; thus forming large accumulations in the organs and bones. These accumulations lead to developmental deficits in both physical and cognitive function, as well as, shortened life expectancy. Because of these developmental challenges – many Hurlers kids only live to be somewhere between two to twelve years of age.
At the time of diagnosis, it was hard to understand what this meant for our baby girl. Because we had never heard of MPS-1 before – we had no idea how truly devastating this diagnosis would be. After meeting with a team of doctors, we discovered that a Stem Cell transplant would be her best chance at life. During this time, we started the Enzyme Replacement Therapy [ERT] to slow the progression of the disease until we could find a match for the transplant.
On March 20, 2015, Analynn underwent her stem cell transplant. Analynn spent sixty-seven days straight in the hospital before she was able to come home. During this time, she endured many struggles and suffered through many complications. At times, we wondered if we would ever be able to bring her home. Each day was filled with uncertainty – would this be our last day with our little girl? For every step forward, it seemed like we would take three steps back. The time spent in the hospital was stressful for not only her, but for the entire family. On May 26, 2015 she was discharged from the hospital. However, her long road has not ended there. In total she has spent over one hundred days in the hospital – overcoming one hurdle after another.
While the transplant is the best option to prolong her life, it is not a cure. For the rest of her precious life, our angel will have to undergo treatments and surgeries in an attempt to repair (or slow) the damage this rare disease causes