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Ring Chromosome 20 Syndrome is a highly debilitating, ultra-rare under-diagnosed epilepsy syndrome that doesn’t respond to treatment. An event will raise awareness and bring families together for mutual support whilst providing vital information to them and their healthcare professionals.

Situation

Children with r20 are often born with no symptoms but when it takes effect usually at age 4-10, the impact is massive with many children having 40+ seizures a day. This turns families’ lives upside down and leaves them feeling helpless with little information and a fear life will never return to normal. Due to r20’s rarity healthcare professionals are often unable to recognise the signs; hence diagnosis rates are low and much treatment is on a ‘trial and error basis’, with often dire results.

Solution

It doesn’t have to be this way though, there are ways of managing the condition that can reduce the level of seizures and we are raising funds to share the available information with families and healthcare professionals, via an international event. Bringing families together will create vital support networks, so families do not feel alone and increased awareness among professionals will improve diagnosis rates, treatment and ultimately, quality of life for children and their families.

Our aims

Aim 1 : Provide support for individuals and families to reduce isolation, by creating a weekend event to build a mutual support network in a safe environment. A weekend away will be valuable respite from the difficulties of daily life of multiple seizures and emergency admissions to hospital.

Aim 2 : Provide support for healthcare professionals managing r20 patients in their care, by facilitating a Breakfast Symposium for them to meet peer to peer to discuss and disseminate the latest research information. The last time r20 was discussed at this level was in 2009, so an update is overdue.

Aim 3 : To raise awareness through engagement as part of a global epilepsy event for medical treatments, utilising the marketing potential of a large international audience of neurologists, epilepsy nurses, dieticians and others within the neurological field which we would otherwise be unachievable alone.

Impact

In 2017 we held the 1st ever r20 families conference in the world; 20 families attended from across the world. The event was highly valued by our families and healthcare professionals (HCP’s) alike and we hope to reach an even greater number of recipients to educate, inform and develop long lasting relationships. Our families should be empowered by their engagement with HCP’s and that they in turn will be better equipped to understand r(20) from diagnosis to treatment, care and management.

“What for you, were the highlights of the conference?

  • State of the art on clinical and genetics of ring 20 syndrome. Patients and families’ inputs
  • Meeting with overseas experts and hearing from colleagues. It was also great to network with families.
  • Meeting all the families/children/teenagers”

Feedback from speakers at a previous event

 

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