Sophia will be 5 years old in May and she has 2 rare diseases. At this stage the experts feel there is no connection between the 2, and as far as we know, she is the only child world wide living with both conditions. Treating one can complicate the other, so we are in a unique position, with more questions than answers in regards to her treatment.
Sophia was born a 33 week prem in 2008 with VACTERL Association, including Oesophageal atresia, Tracheo Oesophageal fistula and 2 holes in her heart (ASD & PDA). She weighed just 1.8kg and was 18 hours old at her first surgery. She has spent all of her life struggling to breathe due to tracheomalacia, struggling to swallow due to oesophageal dysmotility and struggling to go to the toilet due to severe bowel dysmotility. She has Gastro oesophageal reflux disease which will mean a life time of medication and regular endoscopies to monitor cell changes in her oesophagus. At nearly 5 years of age she still can’t manage to eat a Vegemite sandwich. In fact she will probably never be able to eat bread, or meat, without choking. Her diet is mainly fruit and veg purees, yoghurt and pediasure, a complete nutrition formula.
In June 2011, after her 9th surgical procedure related to her VACTERL, we noticed for the first time how regular her fevers were. It was a difficult time, as her latest procedure, a tonsillectomy and adenoidectomy, was meant to be the magical fix to most of our problems in regards to her choking, breathing and sleep apnea. Finally after years of health problems we looked forward to a relatively normal life. Instead we were thrown into more medical investigations as our little girl continued to get sick every 20-24 days on average. Her fever episodes lasted 4 days and she had no other symptoms besides headache and high fever. Her cycle was so regular we could predict a fever to within a few days! We spent 6 months getting anyone to even believe us, over a year before we got a referral to an immunologist. As each fever went by we noticed more symptoms. Joint pain, tummy pain, nose bleeds, and rash, to name a few. 1 year and 8 months later we still have no answers apart from an ‘unknown’ Periodic Fever Syndrome, which is auto inflammatory in nature.
We are currently awaiting an appointment with a clinical geneticist for further testing.