August 23, 2011 at 3:19am we welcomed our beautiful baby girl into the world. A little 6 lbs 3 oz bundle of joy. Little did we know all the challenges, struggles and blessings that would come with this precious life. Within the first 24 hours of Addilyn's life I knew something wasn't right. She was born rigid and stiff, shaking all over. She cried/screamed for 20-22 hours a day, she was simply inconsolable. We spent the first four months of her life in and out of doctor offices with questions remaining unanswered. Sleepless nights created a mother that was unwilling to take one more "No"... "It's colic"... "She will grow out of it"... "You're a young overwhelmed Mom" for an answer... This is what lead to Addilyn's diagnosis'.
At five months old Addilyn had her first neurologist appointment. Her neurologist, Dr Reynolds had ordered blood tests, exams and a MRI, in high hopes we would have some answers.
About 3 weeks had gone by and I received a call February 23rd from him. His positive attitude didn't remain throughout the conversation. He simply stated he would like to see us on February 29th. I agreed with hesitation and a question to follow "Dr Reynolds is my baby going to be okay?" His reply "Jamie, I need to see you in my office on the 29th bring Kyle too." I begged him for more answers and to move up the appointment, I didn't want to wait 6 days for an answer. I had an extremely uneasy feeling yet still trying to somehow think positive.
The 29th was a cold, dark, bleak day. We arrived to the appointment surprisingly early. This appointment brought us the most heartache and fear we had ever felt. February 29, 2012 Addilyn was diagnosed with the horrid Krabbe (crab ay) disease. We had never heard of it. It is a neurological disease that affects about 1 in 100,000 live births BUT every ONE in 125 are carriers of this disease. The life expectancy is 24 months. Krabbe disease attacks the centeral nervous system. The day Addilyn was diagnosed her nerologist explaned her pain to us something like this, "You know how there is insulation around an eletrical wire... Her body isn't producing the insulation to protect that wire..." The wire acts as the nerve and the insulation acts as the Myelin. Eventually her body and brain will become a toxin to itself... Krabbe disease is a very painful disease to live with. It is an understatement to say we were terrified...
From that day forward Addilyn has been on multiple medications to help with nerve pain, muscle spasticity, and inflammation. We have equipment such as: a suction device, feeding machine, oxygen machine, medications, kid cart (stroller/wheelchair), (stander and bath seat soon to come; we hope), surgery and hospital stays to take the place of toys, bottles and baby food.
Addilyn has taught us more about life than we ever thought we were capable of knowing or understanding. She has brought us and taught us great joy, like no other. We are thankful for every second of every day we have to spend with her. We are grateful for an amazing family, amazing friends and a loving supporting community. We are thankful for you, for following our journey! We hope by you following our journey we will make see the big and the smallest of blessings in life, hug your children a little tighter, speak a little kinder and love fully with an open heart! Please help us by raising awareness of this awful disease, "like" our page, and then share it. No parent should feel as though there is no hope and the more parents that know, the less children will have to suffer with Krabbe disease. It IS treatable if detected soon enough or before onset symptoms.
We will remain with HOPE for a cure, PRAYER for a miracle and THANKFUL for this moment! May you help us by raising awareness and be blessed! For more information about Krabbe disease please visit: www.huntershope.org