Tom who had Krabbe disease smiling

Tom was diagnosed with Krabbe disease, a rare neurodegenerative disease, when he was seven months old. Sadly, he passed away aged just 17 months. Tom’s parents describe their time with him:

Tom was born at Hull Royal Infirmary on the 28 July 2012. He fitted into family life really well. He had no signs of any problems at all. He was a very happy, very healthy little boy. Then when he got to about six or seven months old, he started crying more. He started going into spasms and his whole body would go stiff.

We took him to the doctor and straight away he admitted Tom to the hospital. He was sent for an MRI scan and later that afternoon we were told that Tom had leukodystrophy. Three weeks later, we got the news that he had a type of leukodystrophy called Krabbe disease, which is one of the more aggressive leukodystrophies. This meant that we had a maximum of two years from that point with Tom.

When the doctor told us, I just felt numb. Going through my head was how do we tell his brothers and how do we tell our parents and our friends. To be told there was no medicine, and no way you could fight the disease – I think that was one of the most frustrating things. When you have little children, each moment is very special. But with Tom, every time he smiled we treasured it because we didn’t know if this was going to be his last smile. I actually have a picture of Tom’s last smile. I remember it because the next day he couldn’t do it.

One of the most shocking things for me was that, as the disease progressed, Tom couldn’t do anything for himself. Week by week he lost the ability to do something. On Saturday, his tummy stopped working so the doctor took us aside and told us he probably had two or three days left.

Sparks fundraising event video: Krabbe disease – Tom’s story

Tom liked to prove doctors wrong in everything they did. He survived for another ten days and died on 9 December 2013, age 17 months. On the one hand, it was a sense of relief that Tom wasn’t in pain any more that he wasn’t suffering but at the same time we’ve lost our son and it was devastating.

The research that Sparks is funding for Krabbe disease is incredibly important. We know the enzyme that is missing in children that causes the disease but we don’t know how to do anything about it. Finding a cure is obviously the ultimate aim but certainly the research that is being done at the moment is a big step forward.

Find out about our research project looking at rescuing brain cells in Krabbe disease

Your donations help fund research into conditions like Krabbe disease