Gwen's Story

From a young age my Mum thought there was something wrong with my legs but to me they were alright. The family doctor said I was wearing the wrong shoes and nothing more was said or done. I went to school and played sports and did what every other kid did.

It wasn't until I was older, about 17, and wanted to join the army that my mum said I wouldn’t get in because of the way I walked. But I did get in. I was in the army as a stewardess for 2 years with no problems. I met and married my husband Brian who was also in the army and had my two children. After having Claire (1983) my muscles in my legs seemed to become tight but I put it down to sitting down too long chatting and having coffee with friends (as us women do).

We got posted to Salisbury in the UK in 1991 and it was there that I decided to have my legs properly checked over The Consultant at the hospital told me I had an abnormal gait and I had spastic para paresis and gave me medication to take the stiffness away. So from 1991 to 1995 I carried on day by day taking the medication, my legs weren’t getting any worse, but then my finger tips started to feel like pins and needles as if I had sat on them, made them go numb, and then the pins and needles come when you get the feelings coming back.

Brian finished his time in the army in 1997 and we set up home in the UK. As we were now staying in one place, I decided I had to find out what was wrong with my fingers on my right hand, so I went to see a Professor at Addenbrookes Hospital. On my first consultation, he read my notes and roughly said that my fingers and legs were the same problem. In the 4 years I was with him I had various tests done. In 2002 the Professor took up another post and I was then told I needed a MRI brain scan, It was a young doctor that noticed a high signal in the white matter around the lateral ventricals extending into the frontal lobes of my brain, so this doctor realized I didn’t have Spastic Para paresis! I was then admitted in to hospital for a week where they took blood from me. They then had me examined by student doctors and then told me to come back as an out patient for the results...

I got called back for the results... and the Doctor asked me “What I was doing there?” I looked at him, and then looked at Brian, and then thought I had got the wrong date. Brian said a few choice words to him at which point he then started reading my file quickly and then told me to get myself a wheelchair and a chair lift for the house! There were no results and I left his room in tears and still not knowing what was wrong.

I went to my GP and told him about it and he then got me to see another doctor. This doctor had a totally different character and he said he would take my notes home to read, and he would then call for me back in 2-3 weeks. True to his word he called me asking for a blood sample. I went for the blood test and on this form it said - "Test for Krabbe's Disease". I didn’t tell Brian what I had seen but went straight on the internet and looked it up, which was the worst thing I could have done.

These results should have been back within 3 weeks, but, wait for it... the doctor where the blood samples were sent to was away for 3 months. By now I had had enough, The Doctor eventually phoned and asked me to come in as my results were through. Well, need I say more.? I was devastated but at last I knew the name of what was wrong with me. He said that I had Krabbe's Disease with a white galactocerebrosidase activity of 0.034 (normal 0.5 – 4). I then went and met Professor Cox, a lovely doctor who told me all about this deadly disease and about Hunters Hope and that he has met Dr Joanne Kurtzberg from the USA. He told me about the transplants that Dr Kurtzberg does in America with babies, and that they had never done one with an adult, so I was going to be their guinea pig. They told me that by having the transplant, my life could be saved, but it wouldn't put right what the disease had affected. Alternatively, if I didn't have the transplant, then it would eventually kill me in a similar way to Motor Neurone Disease. I had a friend who died of that and I didn't want to die like that. So it was the transplant I went for.

I then went to meet Dr Crawley. He was the bone marrow doctor. He told me that there is an 85% of living with just a normal transplant. Having never done a transplant with this disease it was new to him as well. My siblings all had blood tests done, and my sister was to be my donor. She even had the exact blood tissue as me as well.

I went in to Addenbrookes Hospital on the 19th July 2005 and my transplant day was 27th July. The transplant went well and I was allowed home at the end of August. However I wasn't home for long when I was rushed back to hospital with a high temperature. I was then laid up for another 49 days. My muscles in my legs weren’t being worked so they were becoming weaker and at times I thought this was the end of life. After further treatment I started to feel my normal self again and I came out of hospital on 23rd December. Luckily everything settled down and I've never been back to those uncomfortable beds!!

Two years on and I feel and look very well. My legs have now got muscle tone, which is all down to having to pay for physiotherapy every other week. I do exercises at home and my legs have got stronger. As for my arms, the transplant hasn’t really helped them as I’m now getting pins and needles in my other fingers. My right arm just hangs now and I can’t lift it up. I‘ve got movement in my shoulder which helps, and my arm is not numb. I’m unable to pick anything up with my fingers as three are bent under but they don’t hurt. They're not painful at all. Dr Lennox says I'm neurologically stable and wants to see me now every six months, Professor Cox and Dr Crawley are pleased with my progress so far.

My life has changed but I just plod on and wait to see if the stem cells will start to work. I will just have to wait and see.

Gwen Haycock, October 2008

Help us save a life