This seemed to make her anxious and she preferred the company of adults, maybe because she felt safer. She was very clingy to me for quite some time. It seemed she was always being diagnosed with a new medical condition and needing to see more specialists etc.
During the years she has been diagnosed with right
Choanal Atresia, Barrett’s Oesophagus, Juvenile
Polyarticular Arthritis, Crohns Disease, Kyphosis, Scoliosis,
Osteopenia, and Enlarged Vestibular Aquaducts which
resulted in hearing loss. She had a Nissen Fundoplication
done when she was 4 and her surgeon stated she had the
worst case of Barrett’s Oesophagus he had seen in a child.
She has had over 50 admissions to hospital for Cyclic Vomiting
Syndrome and Abdominal Migraines. Excitement and anxiety are
triggers for her. Eating and drinking make her episodes worse and during 2 long episodes she
Her nickname was Steamroller because she would roll everywhere, quite quickly too. She didn’t crawl and walked when she was 32 months.
She attended main stream schools and was part of the special education units at both primary and high schools. Learning was difficult for her but she always tried very hard. She wasn’t too interested in making friends outside of the special education units.
Diagnosed December 2020
required a PICC line for nutrition. She has a right sided duplex renal collecting system, has had Vestibular Neuritis and other conditions. When she was 12 she had surgery as the bones above each ankle were growing at different rates. At 15 she was having trouble walking due to problems with her left foot so required surgery to have a Triple Arthrodesis. Chloe doesn’t climb stairs and cannot walk on soft sand. A wheelchair is required for long distances or when she is in pain. At 19 she was diagnosed with Osteoporosis.
It was around this time I was researching on the internet and came across CHARGE Syndrome. I was convinced that Chloe had it and went, along with my research, to Chloe’s GP. She referred Chloe for Genetic testing and December 2020, when Chloe was 20, she
Everyone has a story to tell, here's some of ours. Whether diagnosed early or diagnosed decades later, each KBG story is as unique as their fingerprints (yes, we do have fingerprints).
was diagnosed with KBG Syndrome. In a way it was a relief to have a diagnosis and know I wasn’t crazy thinking that we were missing something. I also felt a bit upset and angry maybe that it wasn’t diagnosed sooner. After researching KBG and joining the KBG Syndrome Family Group on Facebook things all seemed to come together. I had always felt that I had never met anyone like Chloe but it’s now like we have this whole other family. Chloe is now 22 and attends a Learning and Lifestyle Centre 3 days a week. She is also part of a program to get people with disabilities into the work force and works in an office for 5 hours a week which she really enjoys.
I am Chloe’s mum.
Chloe was born at 29 weeks and 3 days.
She was quadruplet number 4 and weighed 773grams whilst
the other 3 were all over 900 grams. She spent 3 months in
hospital in the Intensive Care and Special Care Nurseries.
During that time she was ventilated, on CPAP, had jaundice
and reflux, got Necrotizing Enterocolitis, had blood
transfusions, aspirated etc. She had her hearing tested and received the highest score out of the 4 of them which is ironic as she now wears hearing aids.
Chloe was always very slow to feed. She didn’t suck very long so we had to squeeze the teat on her bottle just to get her to drink. I could spend 90 mins feeding her a small bottle only to have her vomit it all back up when finished. It was very frustrating. She was very slow at gaining weight. When she was 4 ½ she was referred to a feeding clinic as she wouldn’t eat lumpy foods and would gag when she did.