Fair for Rare: Bella’s Story
Bella was born in 2003 and for the first few months of her life, we did not notice anything unusual, to us she was your typical happy baby. However, when she was four months old and we took her to the child health nurse for her regular weight and measurements we were alerted that she had stopped putting on weight, that she had begun to ‘fail to thrive’. Being a new mum it was a term I wasn’t familiar with and it still gives me chills to hear it as we have been living with this term all her life.
This ‘failure to thrive’ began even before solids were introduced. In the months that followed we saw several doctors and paediatricians all with different opinions and no answers as to why she wasn't growing. I continued to breastfeed her until she was 13 months old, removing milk from my diet when she was about seven months as we knew from then that she couldn't tolerate dairy as she would get an immediate rash when we trialled formulas - including hypo-allergenic formula. Finally, at 18 months old she was referred to a gastroenterologist for an endoscopy and she was diagnosed with a rare disease called eosinophilic oesophagitis (EoE) – a condition we had never heard of. We were given a prescription for an amino acid-based formula that she has been on daily ever since. She is now 13 years old, so I have a teenager who still drinks formula and we are very thankful of that!
EoE is the most common of the eosinophilic gastrointestinal disorders (EGID). When Bella was diagnosed 12 years ago it was a rare disease affecting 1 in 10,000 people. Over the years, the prevalence has increased and it is now thought to affect more than 1 in 2,000 people. We unfortunately do not have current prevalence data in Australia. EGIDs occur when eosinophils, a type of white blood cell, are found in above normal amounts within the gastrointestinal tract. The eosinophils attack foods (or airborne allergens) creating an allergic response and cause inflammation wherever they may gather, in Bella’s case it’s in her oesophagus.
Looking back to before her rare disease diagnosis, Bella never showed any obvious signs of pain, but we later worked out, that she just didn't know any other way of feeling. When she became vocal she could explain her tummy aches and ‘bubbles’ in her throat. She also has other symptoms including difficulty swallowing, food avoidance, chest and leg pain. In the months after Bella’s EoE diagnosis she underwent allergy testing and we received confirmation that she has multiple food allergies, and is at risk of anaphylaxis. Over the years it has been a lot of trial and error to find out her EoE triggers and her allergies have also changed with her outgrowing some and also gaining more allergies. Bella has an endoscopy each year to check the status of her EoE and has skin prick testing yearly also to confirm her allergies. She also has rhinitis, asthma and eczema. There is a lot of planning involved when you have a child with multiple allergies and EoE, you can’t go anywhere without being prepared. I would, however, have to say the biggest challenge is the psychological impact. Bella’s rare disease typically has a diverse range of symptoms requiring the care of a range of different health specialists. Access to coordinated care is vital to better meet the needs of people living with a rare disease.
Through all of this, her main source of nutrition, and as a treatment for her EoE, has been her formula. She was seven years old when we made the difficult decision for her to have a feeding tube inserted into her stomach and it served her well for nearly four years. During that time, she thrived and had energy like never experienced before, so much so that she took up Cheerleading as a sport, and two years ago, when she was 11 years old, she decided to go back to drinking her amino acid-based formula so she could have her feeding tube removed. Now, at 13 years old, due to her current medication and therapy regime, she has increased her food intake enough that she only needs her formula twice a day to supplement her limited diet.
Bella was diagnosed with EoE in 2005, and in 2009, after years of feeling isolated and frustrated by the lack of information and support available in Australia for those with EGIDs, I founded ausEE Inc. An Australian charity dedicated to improving lives affected by eosinophilic disorders. Fast-forward to 2017 and we are now supporting over 1,000 people living with EGID and provide resources to the medical community as well. You can find out more about ausEE and eosinophilic gastrointestinal disorders at www.ausee.org