Five years ago, when our beautiful daughter, Chloe, was 4 years old, she was diagnosed with the rare genetic condition, SYNGAP1 Syndrome. This causes her to have severe intellectual disability, autism, epilepsy, severe communication delay (non-verbal), global developmental delay, sleep problems, challenging behaviour and sensory processing disorder. Chloe is a happy, determined, loving child despite all her challenges – we just wish we could help her more with SYNGAP1 specific treatments, but none currently exist.

The 21st of June is SYNGAP1 Syndrome awareness day – the SYNGAP1 gene is located on chromosome 6 and on loci 21.32 within chromosome 6, hence why 21/6 is SYNGAP1 awareness day and June is SYNGAP1 awareness month. Throughout June we are aiming to raise awareness of this rare condition and funds to further research into SYNGAP1 Syndrome. There is research going on in various labs around the world, including the Patrick Wild Centre at Edinburgh University, where all money raised will go to directly fund research on SYNGAP1 Syndrome.

Over the last few years, charity SYNGAP1 UK, have asked people to do ’21 for 21’, which is walking/running/swimming/cycling 21 miles during the month of June. Last year I walked over the Humber Bridge and back (3.5 miles) every day for 6 days, amounting to 21 miles in total. This year we have gone a bit more ambitious and, with help from various fabulous friends, we are attempting ‘6 x 21 for 21’. The idea is that we chose 6 activities that Chloe (and many Syngapians) enjoys and do ‘21 for 21’ for each. The activities we have chosen should allow for most ages and abilities to take part and are:

Horse riding (21 miles)

Walking (21 milies)

Swimming (21 kms)

Running (21 miles)

Trampolining (21 minutes each day for 6 days)

Dancing (21 minutes each day for 6 days)

Chloe and I will do at least some of each activity, and I will do a minimum of 3 activities (walking, trampolining, and dancing) in their entirety. Chloe’s favourite activity in the whole world is horse riding so it will be exciting to see how many miles she can clock up in her lessons! Meanwhile, friends will make sure that each activity is completed at least once. So far we have volunteers for horse riding (Lauren Webb), swimming (Vin Kotze), and running (David Davis) – the 3 I will struggle most to complete!! Anyone else who would like to join in to make the challenge even bigger would be most welcome. We even have a bonus cyclist (Allan Blake) offering to do 6 x 21 miles to put us all to shame!!

SYNGAP1 is a gene that we all have which makes a protein called SynGAP in our brains, which is very important in making our brains develop and function. We each have two copies of the gene, but unfortunately for our children one copy doesn't work properly which results in SYNGAP1 syndrome. People with SYNGAP1 syndrome all have some form of learning difficulties, which range from mild to profound, half will also have autism and at least 80% have epilepsy. Challenging behaviour, sleep problems, communication and speech delays and global developmental delay are also very common. There is currently no cure or even specific treatments for SYNGAP1 Syndrome so money is required to fund research to help the people suffering with it.

Syngap1 was only discovered in humans in 2009, which is relatively new in science terms. There are approximately 1200 people in the world diagnosed with this condition, of which about 100 are in the UK, but it is predicted that there could be as many as 8 million worldwide. It is also thought to be one of the biggest causes for Autism/learning difficulties. Due to the low numbers of people diagnosed and how newly discovered this debilitating condition is very few people have heard of SYNGAP1 Syndrome so there is a real need to raise awareness too.

Research is very expensive and the SYNGAP1 charities are just groups of parents of children with SYNGAP1 Syndrome trying to help our children. Please, please help in any way you can by sponsoring, sharing this page, or even coming and joining in any of the activities. I will be walking over the Humber Bridge again for my 21 miles walking so feel free to join me!! Thank you so much for any help you can give us.