My little boy Rory was born in June

My little boy Rory was born in June 2011 with a rare genetic condition called Treacher Collins Syndrome.
For us Rory’s condition is 1 in 50,000 as there is no family history of TCS. TCS is a genetic condition caused by a mistake in a gene called TCOF1. However, now that Rory has TCS there is a 50/50 chance of him passing it onto his children.
We have been extremely blessed that Rory only seems to have TCS in a mild form.
He is missing his cheekbones which cause his little eyes to droop, he has a notch on the lower lid of both eyes, a tell-tale sign of TCS & one eye doesn’t appear to have a tear duct which causes it to weep constantly. His jaw is smaller & his ears & ear canals didn’t form properly so he needs to wear a bone conductor hearing aid in a headband.
In Rory’s case, his TCS is very much a ‘cosmetic’ condition & hasn’t affected his development or meeting any of his milestones. People with TCS are of ‘normal’ intelligence, they just simply look different.
We attend regular appointments with Dr’s & Specialists who keep a close eye on Rory’s progress. He is under the care of at Princess Margaret Hospital for Children; Dental Team, Ear, Nose & Throat, Plastics/Cranial-facial & Ophthalmology. Rory also has weekly Speech Therapy appointments, they also conduct regular hearing tests to make sure his hearing is on track.
Rory’s Paediatrician also likes to see him every 6 months or so to chart his progress, he hasn’t had a TCS patient before!
Rory is a very sweet, happy, loving & loud part of our family! He has 2 big sisters & a Mum & Dad who just adore & love him! We wouldn’t have it any other way!
Thanks for reading & letting us share our journey so far