Meet our team Gene Heroes

Our fundraisers are remarkable people – here are their stories:

Greg’s story

My grandad passed away when I was a child as I’d find out later in life was a result of the genetic disorder ‘ Huntington’s disease ‘ with the condition being hereditary unfortunately as years have gone by my uncle and auntie have also being diagnosed with the condition.

Witnessing the illness first hand is a really heart breaking thing to see, I can’t imagine what they must be going through, I also knew there was a possibility I could be diagnosed myself. So with my wife and I looking to start a family I owed to her and my future children to look at genetic testing to find out for sure, I went ahead with the testing and thankfully the results came back all negative, I felt like I needed to give something back not just for my family but for all families and individuals who are affected by ‘genetic disorders ‘ so it was a real privilege to run the Aldi Manchester half marathon and raise money for genetic disorders UK, and will look to be doing it again in the future.

Hunt Family’s Story

Lana and Liza hosted several fundraising events as their sister’s daughter Sophie has Pantothenate kinase-associated neurodegeneration a genetic disorder of the nervous system.

“On 9th July Harris Primary Academy Crystal Palace held a Summer Fun day donating some of the proceeds to Genetic Disorders UK whilst our friends and family also hosted a stall to raise money.

On the 20th August we hosted a large fundraiser with live singers who donated their time for free to come and perform for us. We also held a raffle to which individuals and businesses donated so we could raise more money.

In total we raised £1600 for Genetic Disorders UK which we are really pleased with.”

Lake District Triathlon team

The team at the Wolfson Centre for Personalised Medicine (WCPM) are committed to genetic research. The team at WCPM vary from research nurses, administrators, research co-ordinators and data managers. With varying levels of fitness and age this challenge will push us all to our limit and beyond, having said that we are all happy to go extra lengths for an initiative we all support.”

“This was without doubt, the hardest physical challenge any of us have ever completed. 10 non-stop gruelling hours – 3km canoe on Derwent water, 40km bike ride over BOTH the Honister and Newlands passes and a 10km treck/climb up the Haystacks. We made it and managed to raise over £2000 for Genetics Disorders UK”

Muddy Maniacs

“My son who is 5 has a rare genetic disorder and because he was diagnosed early on he has been given a much better start in life! Myself and 4 friends raised £610 by participating in a 6k Muddy Manic challenge of mud, water and obstacles. The bruising the next day was well worth the money we raised!”

The Colour Run

Charlotte Jones and a team of friends and family ran The Colour Run on the 2nd July 2016 for Genetic Disorders UK and Charlotte’s daughter Georgie who has an unknown Genetic Disorder. You can read more about Georgie who was Charlotte’s reason for running below.

“Georgie is now 13 months old. We had a healthy pregnancy and normal delivery. She was born with an impeforate anus (her anus was missing). This was surgically corrected at 5 days of age. And since then she has severe constipation issues at times.

She then proceeded to fail her 8 week check. She had no head control and was described as floppy. Nor was she fixing and following. She was referred to the peadatricion and eye specialists. She also has a large birthmark which they felt may also be linked.

She was later diagnosed with hypotonia due to continued delays in motor development.

She gained head control eventually at 5 months, sat unaided at 10 months. And currently she is unable to crawl, weight bare etc.

Georgie has had investigations for skull deformities (cranioystenosis) but it turns out that at present she just has an unusual skull shape and investigations with neurology and the neurosurgeons, have so far had positive outcomes.

Georgie has positive thyroid antibodies meaning her body thinks her thyroid is an invader, this is likely to cause difficulties with her thyroid function in the future.

We are still living in the unknown. Genetics state that she has an unknown syndrome.

But we live in hope that she will one day reach a diagnosis. As this is something she is now likely to pass on to her children. She has been referred to the 100000 genomes project.