The 365 days of PHELAN LUCKY campaign is about to kick off on Friday the 17th March 2017- ST PATRICK'S DAY!
What is 365 days of PHELAN LUCKY? The aim of the 365 day challenge is to have families affected by Phelan-McDermid Syndrome, within Australia & New Zealand wear the same t-shirt for a month at a time, covering all 365 days in the year.
The families aimed to raise awareness of Phelan-McDermid Syndrome all over Australia & New Zealand as well as funds to be able to assist them in attending the the Phelan-McDermid Syndrome Foundation conference in Sydney, September 2017. We are extremely pleased to tell you that these funds assisted families by lowering costs of registration for the 3 day conference event. We have raised so much awareness this past year & we cannot thank everyone enough that has kindly donated & shared.
100% of the funds raised through this campaign up until September assisted families with attending the 2017 conference! Additional funds have been put towards planning of the next conference.
We are pleased to say that our aim for our 2nd Australian conference is underway & are aiming for mid-late 2019.
Without your support we could not have helped each family in 2017 will reducing travel & accomodation for each of them.
What is Phelan-McDermid Syndrome?
Phelan-McDermid Syndrome, sometimes called 22q13 Deletion Syndrome, is a genetic condition caused by the deletion of the terminal end of chromosome 22 or mutation of the SHANK3 gene. In most cases, the condition is not inherited, but results from a de novo (spontaneous) mutation.
What is the SHANK3 gene?
SHANK3 structurally supports synapses, the communication hubs between neurons. It gives instructions for making a protein (PROSAP2) that facilitates neuronal communication. The SHANK3 protein also helps create dendrites, which are specialized extensions from neurons that are essential for the transmission of nerve impulses.
How does the deletion happen?
The deletion can result from a simple break in the chromosome, an unbalanced translocation, a ring chromosome, or other structural changes involving chromosome 22.
What are the core features of PMS?
The most common characteristics found in those with PMS are intellectual disability of varying degrees, delayed or absent speech, symptoms of autism spectrum disorder, low muscle tone, motor delays and epilepsy.
Are all cases of PMS the same?
Deletion sizes, SHANK3 gene mutations and the clinical features of Phelan-McDermid Syndrome are all highly variable. Nonetheless, studies suggest that individuals with larger deletions are more likely than those with smaller deletions to have characteristic body features, neonatal hypotonia, neonatal feeding problems, atypical reflexes and greater delays in meeting developmental milestones.
To view our wonderful journey please check out our daily posts via the 365 days of Phelan Lucky, awareness of Phelan-McDermid syndrome, Facebook page.