14/08/2026
Everybody, meet Ruby 🩷
Ruby is 2 years old, from Co. Galway.
At 8 months old Ruby was diagnosed with a rare condition called Cornelia de Lange syndrome.There are 3 variations of CdLS. People living with this condition experience a range of physical, cognitive and medical challenges. These include distinctive facial features, intellectual disability, low birth weight, respiratory illnesses, heart defects, hearing impairment, gastrointestinal abnormalities, scoliosis, social anxiety and much more.
Ruby was so tiny when she was born, she was born at 37 weeks and weighed 5.5lb. She had constant conjunctivitis when she was younger and had to be taken into A&E to get nasal suction. It was during a visit to A&E in 2025 that a doctor noticed signs that Ruby may have CdLS. She was tested, diagnosed and from there, it was a road of very much the unknown for all of us, we met doctors, endocrinologists and specialists, only one of them had come across CdLS before.
I got in touch with Laura from Rare Ireland after finding them online and asked her all the questions I could think of. I was basically looking for help as we were not sure what was coming down road for us. I have to say she gave me loads of comfort in her words and reassured me that if there was anything I needed I could just ask. From that, I have been in contact with a few Mammy's of kids with CdLS and if I am looking for advice, I ask them, as Ruby is one of the youngest in the group, but Rare Ireland has just been a God send for me.
CdLS has mainly affected Ruby’s growth and her speech. Is she non verbal? That we don't know yet but she makes her own sounds and is able to communicate better than anyone I know.
Ruby has just celebrated her 2nd birthday. She loves being outside with her Sisters playing, they are 6 and 3. She loves playing on the trampoline, on the swing and scooting around on her little car. She is a little sassy pocket rocket and knows she's the cutest thing.
“As a family living in an unknown world for a while, we have just adapted to her needs and how she communicates. We let her show us. Ruby loves her Sisters. She is their whole world. They absolutely adore her and without them I really don't think she would be the little pocket rocket we have today. We are very grateful that Ruby is so well and able in every aspect, and we absolutely love our little fairy”.
