Richard Durkin

Richard's page

Fundraising for UNIQUE (Rare Chromosome Disorder Support Group)
£2,570
raised of £2,500 target
Donations cannot currently be made to this page
Event: Asda Foundation Yorkshire Marathon 2019, on 20 October 2019
We Provide support and information to improve the care of those affected

Story

This year I’m running the Sheffield Half (14 April), Leeds Half Marathon (12 May) & the Yorkshire Marathon (20 October) in support of Unique - a charity aimed at raising awareness of rare chromosome disorders whilst offering information and support to those with chromosome disorders.

This is charity that’s close to the hearts of myself and my family. David - my eldest son - has microdeletion 16p.11.2 syndrome. Effectively, pieces of the chromosome is missing some information. Such a deletion can cause developmental delay, some learning and behaviour difficulties and health problems.

In David’s case, some of the issues he has are a global development delay - where he misses several key milestones - for example late walking - and is still behind in all areas of development compared to other children of the same age. His speech is far behind where it should be - my wife and I have learnt Mackaton in order to help communicate with him. David has regular speech & language sessions to help support his development in this area.

He also has epilepsy - which at the moment is still classed as uncontrolled - and despite being on 3 different medications (which he takes twice a day) he still has seizures. We are awaiting an appointment at a ketogenic clinic to look into a specialist diet to help gain control of his seizures.

**Edit - David has since had his medications altered and one has been removed as it wasn't aiding getting his seizures under control, and gave him other issues such as insomnia. At least on a positive note its one less medication for him to take!**

David is starting physio therapy to aid the development of his fine & gross motor skills, and has recently been diagnosed with hypermobility in his ankles, knees & hips.

The above are just some of the ways David is affected, however despite the challenges, he tackles everyday with a smile, and is a wonderful big brother to Teddy.

We are awaiting results to see if Teddy has the same deletion.

Before we had David’s diagnosis, we hadn’t heard of the condition due to its rarity. Unique have helped us to understand microdeletion, and what comes with it. Every person with microdeletion can have different effects, it wasn’t until David’s diagnosis I found out I myself had microdeletion 16p11.2.

I think the work Unique does is invaluable to all the families they support, and the research they are doing to gain more awareness into microdeletion. I will continue to support them in the task to find out more and teach people of their research.

Thanks for taking the time to visit my JustGiving page. I’m always happy to talk and answer any questions you may have about David, Teddy or microdeletion.

Donating through JustGiving is simple, fast and totally secure. Your details are safe with JustGiving - they'll never sell them on or send unwanted emails. Once you donate, they'll send your money directly to the charity. So it's the most efficient way to donate - saving time and cutting costs for the charity.

About the charity

Unique provides much needed help and information to those caring for a family member with a rare chromosome or single gene disorder. These are lifelong conditions affecting at least 1 in 200 babies, causing disability and medical issues. For more information see www.rarechromo.org

Donation summary

Total raised
£2,570.00
+ £358.75 Gift Aid
Online donations
£1,490.00
Offline donations
£1,080.00

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