Jackson was a thriving baby boy for the first five months of his life. He was at the top of the charts in height and weight, hitting all of his developmental milestones on time or early, and was an all-around cheerful baby boy. At the five month mark we began to notice he was growing increasingly fussy and uncomfortable. It started off with some straightening of his arms and legs, which we thought may be out of frustration or discomfort associated with a small respiratory infection he was fighting off.
Between five and six months this rapidly progressed into something much more, and he spent the bulk of each day with rigid arms and legs and crying inconsolably. We were within a couple of days of his six month check-up where we expressed our concern over these symptoms. At that point, the doctor knew something potentially serious was going on. We were scheduled to meet with a neurologist as quickly as possible (which turned out to be over a month out).
Two days later his discomfort was to the point we felt he needed to be seen right away. Jackson went to the emergency room where he was evaluated for about four hours. The ER doctor treating him unofficially diagnosed him with an unspecified neurological disorder, and told us that chances were he would never live a normal life. Test results were sent to his pediatrician’s office that night. We received a call the following day from the doctor saying to go back to the ER right away and to pack a bag because we’d be admitted.
We spent the next eight hours in the ER where Jackson received extensive blood work, a CT Scan, and a spinal tap prior to being scheduled for an emergency MRI. On October 26th, 2013 Jackson underwent his MRI. The results showed excess white matter involvement in parts of his brain, and we were simply told sometimes this is a non-issue and sometimes it’s linked to something more serious. They didn’t want to speculate, and they would be consulting a metabolic geneticist and getting back to us with more information.
Within a few hours we were paid a visit by the geneticist in Jackson’s hospital room. We were told that all of his test results and clinical presentation pointed towards a form of Leukodystrophy called Krabbe. This is a very rare genetic disorder that we had never heard of, so it didn’t hit home until they said that there is no cure and it is typically terminal by the age of two. At that moment our lives changed forever. One final blood test was performed to confirm that his GALC enzyme level was consistent with Krabbe, and on November 1, 2013, Jackson was officially diagnosed with Krabbe Disease.
Given the rarity of the disorder many of Jackson’s local doctors hadn’t treated a patient with his condition. Within two weeks of diagnosis Jackson was seen by a team in Pittsburgh, PA, that specializes in caring for Krabbe patients and is at the forefront of research on the disease. At the initial visit with the NDRD team in Pittsburgh it was confirmed that his symptoms were too far progressed to make him a candidate for bone marrow transplant. Transplantation is a potentially life saving treatment option for a child with his condition. Jackson’s care going forward would be focused on keeping him comfortable.
In addition to comfort, the focus was on making sure Jackson had an opportunity to experience life to the fullest extent. Although his life here on earth was short, his life experiences were many and his impact on others was extraordinary.
Jackson experienced the mountains of Colorado, the beaches of Florida, and the mist of Niagara Falls. He had the opportunity to experience baseball at Wrigley Field and travel to Toronto to visit the Hockey Hall of Fame. Some of the most special times were with other Leukodystrophy families each summer at the Hunter’s Hope symposium. He even got to take a trip with his super special friend, Anna, to Disney World and the Wizarding World of Harry Potter.
Although Krabbe stripped away a lot of Jackson’s physical ability, he never lost his ability to communicate with us. He also never lost his ability to enjoy the simple things in life. He taught those around him to appreciate those things the same way he did. He loved music, being read to, massages, bath time, a cool breeze through his hair, and snuggling with Mom and Dad.
Above all else, we are proud of how Jackson’s life and journey has impacted God’s kingdom. Jackson’s light shined so bright, and people always shared his impact on their lives with our family. Jackson has also reached thousands through his foundation. The foundation is the platform for his story to continue positively impacting other families across the country affected by Leukodystrophy.
Jackson passed away July 4th, 2016 at the age of 3 year and 3 months old. He was born in the State of Texas where Krabbe is excluded from the panel of diseases screened for in its mandatory newborn screening process. Nothing abnormal was detected in his screen, and everything appeared normal for those first several months where he was developing normally. If detected early enough there are potential lifesaving treatment options that can be pursued. Once symptomatic, there is no way to reverse the damage done and only supportive care currently exists.