Jack's Story, by Melanie MacPherson

Our beautiful son, Jack Alexander MacPherson was born 28th July 2006. He was a delightful baby, who was adored by all. We loved watching him change from a newborn into an inquisitive baby and he seemed to have no trouble reaching all the expected milestones. We eagerly awaited his next achievements, it would not be long before he would sit up unaided, crawl, get that important first tooth.

I returned to work in January 2007 when he was almost 6 months old, I was looking forward to getting back to the job I loved and settling in to our new routine.

It was a few weeks later than our world began to fall apart. We noticed that he was no longer reaching out for his toys. He particularly loved his rattles and would chew on them all day long, now he did not seem interested. We also noticed that at bath time or when he was getting a nappy change his legs did not kick about like they used to. We were confused as he seemed well and was still smiling and laughing. Over the next few days we noticed that his arms and legs would go rigid for seconds at a time and that his head control was not as it should be. The next day he started to refuse his milk and solids and became very irritable.

We took him to our doctor a few times and a few possibilities were suggested. After another week of no improvement and more regression we decided to take him to our local children's hospital to be assessed by a paediatrician. While being evaluated Jack started to have seizures and within 24 hours our little boy had become very sick indeed.

Almost straight away the doctors referred to Jack as complex, complicated, most unusual. They prepared us for the worst but we were still devastated when the diagnosis came a few weeks later. Krabbe's Disease, a rare degenerative neurological condition. We were told there is no cure or treatment and average life expectancy is 14 months with most infants not reaching their 2nd birthday. Children lose all movement, speech, smile, eyesight, hearing, ability to swallow. Jack was showing all these symptoms very rapidly therefore we had to quickly adapt to caring for a terminally ill child.

Jack was only 8 months and we were facing the prospect of only having him with us for another few months, our world fell apart, our friends and family were devastated, how can this happen to such a wonderful child.

We were determined that Jack would come home to us, and receive the best care possible. From the beginning we have tried to be as positive and optimistic as possible, learning so much about special children and ourselves along the way. We soon adapted to his care needs, we mastered giving him his milk and medicines via a feeding tube, learning physiotherapy skills and ensure he had all the necessary equipment to make him as comfortable as possible.

Jack sadly lost his fight to this cruel disease on April 29th 2008. He was 21 months old. Our lives will never be the same again.

We have since found out that in USA, New York State have introduced Krabbe's Disease to their newborn screening program. This means that if children are diagnosed at birth, before the disease has progressed and any damage done, they may be suitable for a life saving bone marrow or stem cell transplant. This has been proved to be an effective treatment for Krabbe's Disease. The key is early detection, and newborn screening would provide this.

Melanie MacPherson, October 2008

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