Living with a Genetic Disease – Helen Tandy

I have known that Fabry was in the family for some time but only known that I myself was affected for around 20 years when the gene test became available and after my son was born. I didn’t have any symptoms until 2001, just after my wedding I had what I later found out was a TIA (like a small Stroke). I was very unwell for some time afterwards suffering from nerve damage to my eyes. At the time I worked for Nationwide Building Society, who had a very good sickness package and were very good with me, accommodating my request to work on a part time basis if needed, whilst I was unwell. I was reluctant to go off work on long term sick as I needed to keep busy, to keep my mind off the illness and the nerve pain I started to suffer.

I was lucky to be put on treatment very soon after it came out of the medical trial in the UK. I was also thankful that I lived in Wales, the Welsh Government seemed to have a clearer and quicker policy in agreeing to the high costs of the medication I needed than some of my family members in England.

The medication is currently provided in powder form which must be mixed with saline and taken intravenously via a drip every two weeks. I have done this at home for around 15 years now, Nurse free for all apart from the first few months. I am able to do this with the help of my son and husband who mix all of the medication for me.

Since that early scare it’s been more on and off, sometimes I am well and have few ill effects apart from the large amount of medication I take, on top of the Enzyme drip. Then I can go through phases of ill health and debilitating pain. I do have some problems with my heart and blood pressure, but the main thing that causes me the problems is the nerve pain. I am lucky to have a full MOT at Salford Royal, the local specialist centre for Fabry for the North of England each year. I am not sure why the nerve pain is worse at some times and fine others, although it is known that extreme temperatures can impact on this, so hot or cold weather and quick changes in weather temperatures (which we get a lot of in the UK) seem to have an effect, if I’m suffering from other ailments which my body might be trying to fight. I have also found stress to be a catalyst for the nerve pain.

I have always worked full time apart from the very early days after the TIA and again my current employer Castlefield Partnership have been very supportive.

Friends and I decided that we would attempt a Tough Mudder (half) earlier in the year after raising funds for Cancer Research by completing a Pretty Muddy.

I have always tried to push myself when I can. Last year I walked Snowdon with some Castlefield colleagues, who were completing the Three Peaks Challenge, with my current health this isn’t as easy as it used to be.

With the Tough Mudder, my friends live close together and opted to raise funds for Brain Tumour research, after one lost a friend recently. I felt that I needed to raise funds for something closer to heart and decided that I would compete on behalf of the MPS society.

“The MPS Society is the only UK charity providing professional support to individuals affected by MPS and related Lysosomal Storage Diseases, their families, carers and professionals. We also fund research into the causes, effects and treatments of these severely life-limiting diseases and raise public awareness.

Thanks in part to funding by the MPS Society there are now 5 treatments available for the 25 MPS and related diseases that we support. 

It’s easy to forget we are a small charity because of what we have achieved, but we have only been able to do all this thanks to the voluntary donations and fundraising efforts of people like you.

We still have so much more we know we can do, please support us.”

I am pleased to say that the team completed the Challenge and are already planning to complete the full Tough Mudder event next year.

So far I have raised over £250 for the MPS Society, who do some fantastic work helping fellow suffers of Fabry and other similar genetic diseases. You can still support me through my Just Giving Page.

Next I will be raising funds as part of Jeans for Genes Day 2016 which will be on Friday 23rd September. The charity aims to change the lives of children with genetic disorders, giving them the chance to get the care and support they deserve. The funds raised go to supporting children and families with one of many genetic disorders. It is estimated that one in 25 children is affected by a genetic disorder and therefore 30,000 babies and children are newly diagnosed in the UK each year. You can also provide your support.

Thanks for reading…