Mum of two, Sarah Vousden is a member of our charity's families forum. The forum's members are helping HUK to develop resources to explain GH to children and young people. Sarah shares her family’s experience of genetic haemochromatosis… 

Haemochro-mum-tosis

Prior to receiving a definitive diagnosis via gene test, the children knew something was very clearly not right with Mum. As a teacher she was always up early & the marking pile never appeared to diminish. When Mum suddenly stopped getting up for school, questions were asked?? and with those questions came thorough answers. The children were 11 & 14 so there wasn’t much sugar coating. No1 was studying GCSEs in Science and recently having covered DNA in Biology he needed to know what was affected? 

 

The questions were based on the prevalence of inheritance and how the Hfe gene would affect his future? 

 

When the gene test was returned with a C282Y x2 he looked at an inheritance diagram and said to Mum, “so I am at least a carrier”. 

 

No1 was eager to inform No2 of his findings with the mindset of “it’s better if she knows the truth”! 

The explanation to no1 was simple; sharing that our bodies don’t know when they are full as they are missing a turn-off switch, so the iron keeps on being absorbed. 

 

No2 asked “but where does it go”? This led to a more in-depth conversation about storage in the joints and organs (such as the liver and pancreas) and that the build-up was responsible for Mum’s stomach pain, tiredness and achy joints. 

 

Unbeknownst to us, No1 has been reading up online. So, when venesections started he was at first obsessed with tracking the numbers. No2 followed suit but after about month three they became less concerned about ferritin levels, and realised it would take time. The obsessing over every blood test and level was neither a realistic nor healthy approach. 

 

(Note-to all : keeping your venesection diary in the glovebox for ease so you don’t have to search through multiple handbags each visit, will not appease the interested know-it-all teen who clearly thought he happened upon the aforementioned  “hiding place” and couldn’t be convinced otherwise) 

 

As most hospital appointments happen whilst they are at school, they’ll come home and notice a dressing or bruising and more readily accept this as normal for Haemochro-mum-tosis. Afterall, both Mum and Dad had been a regular blood donors for as long as they could both remember and they had accompanied us to donations multiple times. Mum gives blood we eat biscuits with Dad then Dad donates and Mum gives us fruit from her bag.

 

At least for our two, once they’d been to an actual venesection appointment and seen for themselves this was a procedure they were familiar with  they were more at rest. They readily await the message from NHSBT stating where our donations have gone. Now Mum is able to donate too (thanks to Co-vid)  it has become somewhat of a competition between Dad Vs Mum’s super-donation. The last donations travelled to Rochdale/Oldham Vs Newcastle Upon Tyne - definitely a win for Haemochro-mum-tosis! 

Are you a parent or grandparent?

Get involved with our families forum, as we work to develop booklets, videos and podcasts to help explain genetic haemochromatosis to our children and young people.