my story

Jackson was born on March 30, 2003 after a healthy pregnancy. He was absolutely perfect in every way, and Marshall and I were overjoyed to be first-time parents. We delighted in watching him smile, learn new things, and engage in the world around him.

Jackson always had a very peaceful spirit. He was a content baby that didn't cry much - he was generally happy as long as he had loved ones around him. He developed skills at a typical rate, learning to sit up and crawl well within the normal time frame. Nothing in his early development led us to believe there could be anything wrong with our son.

When he was about 16 months old, we began to notice that he was not sitting as strongly as he had been. He started needing to steady himself with a hand on the ground, where he had previously been able to sit and play with a toy with both hands. We took him to his pediatrician and she immediately sent us to a neurologist for a work-up. Within two weeks he had an MRI that showed demyelination in his brain. Based on the pattern of demyelination and his physical symptoms, Jackson was diagnosed with a leukodystrophy - a disease that would slowly rob him of all his abilities and would eventually take his life. I can't even begin to describe the pain we felt on hearing those words.

There are many different types of leukodystrophies, and Jackson began to undergo testing to determine which particular leukodystrophy he had. At first we were told that he most likely had a form called MLD (metachromatic leukodystrophy), but confirmatory blood tests were negative for this disease. We sent more blood work to a lab in Philadelphia that specializes in this area, and received the results within a week... Jackson had Krabbe Disease. It had been one month since Jackson's MRI. When our neurologist called with the news, he told us that there was no hope. The best we could do would be to make Jackson as comfortable as possible. Regardless of this grim prognosis, we were determined to find any possible means of treatment.

That night, during an exhaustive internet search for treatments for Krabbe, I found information about a program at Duke University that was having some success in treating leukodystrophies with cord blood transplant. I sent the head of the program, Dr. Joanne Kurtzberg, an email that night at midnight. Amazingly, even though she was at a conference in Europe, I had a response from her by the time I woke up the next morning. She wanted us to fly to Duke for further evaluation. A flicker of hope began to burn a little brighter.

Within a week we were in Durham, North Carolina. Jackson went through a grueling week of more testing to determine if he was a good candidate for a cord blood transplant. As Jackson has a rare form of Krabbe Disease, the doctors at Duke had very few patients to compare him to. Because of their limited data, they couldn't give us a definite answer as to whether or not transplant would help him. With hope in our hearts, we chose to pursue transplant.

Transplant Journey

The transplant journey is not an easy one. At the first meeting with the medical team we heard all the risks associated with the process - risk of death from his, risk of death from that. It seemed like there were almost more risks than benefits. This is why transplant is a 'last-ditch' effort to save a life, and only used when every other option has failed. Over the past two months we had gone from being a normal, happy family to finding ourselves on the brink of a 'last-ditch' effort to save Jackson's life. Our heads were still spinning.

During the previous two months, Jackson had continued to lose skills. By the time we arrived in North Carolina, Jackson was no longer able to crawl or sit unassisted. He had began to have eating difficulties although he was still able to nurse. He was starting to lose some of his words. Even though this loss, he remained a cheerful and sweet child. He gave us so much strength through his gentle spirit.

Jackson was admitted to the hospital to begin his pre-transplant chemo on October 19, 2004. He received 8 days of high-dose chemotherapy and immune suppressants which destroyed his bone marrow. On October 29, 2004 he received his cord blood transplant - a unit of cord blood from a healthy baby boy born in North Carolina. The transplant itself was very uneventful... the cord blood trickled in like a blood transfusion, and Jackson slept through the whole thing. But underneath that quiet process a huge moment was passing - our son was being saved. This blood would give him a new life.

Jackson's post-transplant path was remarkably smooth, without major infections or illnesses. We learned on post-transplant day 30 that his donor cells (the term for the cord blood cells) did not fully engraft, meaning that his body was threatening to reject the transplant. Since then we have aggressively and creatively tinkered with his immune suppressant medications to ensure that enough of those life-giving cells stay in his body to produce the enzyme he needs to survive. So far, we are winning that battle. However, to ensure that his body doesn't completely reject the donor cells, Jackson will need to remain on high doses of immune suppressants for the forseeable future.

The transplant is considered a success because it has stopped the disease in it's tracks, because the Krabbe Disease will not progress further and take more of his skills. Unfortunately the disease did quite a bit of damage to his nervous system before the transplant was able to stop it, and as a result Jackson will always have some level of disability. Currently he is not able to walk, crawl, or even sit unassisted. He is not able to speak, but he uses eye gaze, facial expression, and computerized devices to express himself. He is fed through a tube because he lacks to oral motor strength to coordinate eating. One of the 'good' things about Krabbe Disease is that it doesn't appear to affect cognitive function, so Jackson is still quite smart and understand everything going on around him. He will start kindergarten in the fall and is learning to read.

Through all this, he still has an amazing disposition and positive outlook. He is sweet, funny, kind, and cheerful. He is laid-back and mellow, yet can be very determined and definite about things when he wants to be. Quite simply, he is an amazing boy and has taught me more about living life and love than I ever thought possible. Thank you for taking the time to get to know him and read his story.