- D
Follow Cians Journey:
Background
Our little boy Cian turned 4 this August. Very early on, we noticed that Cian was missing developmental milestones. This lead to many hospital visits and tests. Eventually, genetic testing confirmed Cian as having a very rare (about 50 people worldwide) genetic disorder called NARS1 disease.
NARS1 is a Neurodevelopmental disorder which causes Cian:
- language delay (unable to speak). The other NARS1 kids have reached a maximum of about 12 words by teenage years.
- difficulty walking or doing things with his hands due to gross and fine motor issues and a gait abnormality (gait abnormality is an unusual walking pattern).
- learning difficulties. Cian can understand basic sentences like "Look at the dog" or "Get your shoes" but would not understand something being hot or cold or any sentences that need a slightly deeper level of comprehension.
- Demyelinating neuropathy. Unfortunately, Cian tested positive for demyelinating neuropathy. The level and rate are not yet understood fully and so we keep our head in the sand on this one and keep pushing onwards and upwards.
- A significant majority of the children with NARS1 suffer with repeated seizures and while Cian is very fortunate not to, your donation will be helping those that do.
But what about Cians day to day life?
Cian, similar to all NARS1 kids, is a massively sociable boy and absolutely loves people. His interaction is great and he has lots of interest in toys, people and being in the middle of the action! He loves paying ball and when other kids give him attention. He attends pre-school for ECCE here in Kildare and just loves finding fun in everything he does with his teachers and AIMs worker. Cian is enrolled with Enable Ireland who have been working with him since the age of one but let's be honest, we all see in the news that children are not getting to see therapists, and the various sessions with them are few and far between. We fund Cians therapies privately and this is NOT the reason for our Go Fund Me page.
Why Go Fund Me for Cian (and other NARS1 kids)?
NARS1 was only discovered in the last 3 years by the brilliant Stephanie Efthymiou and her team in their London lab. Worth noting that Stephanie leads the scientific board of the Rory Belle Foundation (more details below) and actively fundraises herself to help the ongoing required research into NARS1. Before her work, many people had gone undiagnosed with these issues for many years as the disease was not known about. Imagine having a child like Cian, for 20+ years or longer and never getting a diagnosis. Now Stephanie and others are looking at existing medications that may have a cross purpose and help with the symptoms of NARS1. More importantly diseases like NARS1 are prime for consideration with gene replacement therapy and other approaches which could mean NARS1 may someday be cured. The running of the labs and the research takes money, and lots of it. More than all the NARS1 parents alone can ever raise and so we need help.
While we continue to fight for our kids rights to help from local and international organisations, and while we continue to fund therapies week to week ourselves, we need your help on the bigger picture, longer term, to help our children and to make sure others like them can be cured sooner and be less impacted in the future.
No amount is too small, if enough people donated the price of a coffee we'd could make serious inroads.
The Rory Belle Foundation
All money raised will go to the RoryBelle Foundation, a foundation set up by the mother of the beautiful little girl, Rory Belle, who passed away in 2021 due to NARS1. Rory's life is now lived through her foundation, which provides others born with NARS1 mutations a chance to live with joy everyday. This is their mission. There is a wealth of information available on the foundation website here: