Maggie shines a light on rare diseases

To recognise Rare Diseases Day, we spoke to Maggie’s mum Jess, who shared her experience of navigating her daughter’s rare condition, Ornithine transcarbamylase deficiency (OTC deficiency).   

Four-year-old Maggie was born with Ornithine transcarbamylase deficiency, a rare genetic condition that occurs in up to 1 in 77,000 people, where she is missing an enzyme in the urea cycle.  

Therefore, her body cannot process protein which causes high ammonia levels. The symptoms are vomiting, lethargy and irritability. Long-term brain damage is often a result of hyper ammonia.  

“When I was 20 weeks pregnant, we found out that Maggie was going to be born with a genetic deletion on one chromosome. This was going to mean that she could have multiple problems arise over her life,” said Jess, Maggie’s mother.  

“Maggie has spent a lot of time at the RCH over the last four years. Sometimes being admitted weekly or fortnightly and staying anywhere from 2 days to 7 days each time.” 

Maggie’s care team involves a number of different disciplines from across the hospital including the metabolic team, dieticians and social work.  

Maggie is put on continuous non-protein feeds through a PEG and is given IV meds to help decrease the ammonia levels.  

She has had a PEG and a port inserted over the last year to help make everything easier and less traumatic for her.  

“There have been many ups and downs, over the last year especially. With no clear indication of what her future holds.”  

At home her condition is managed by oral medication and a low-protein diet. No matter what gets thrown at her, Maggie continues to be happy and is always bringing joy to her parents.  

“Maggie continues to inspire us daily. Her resilience is amazing! She has a fiery personality but is generally happy and in a great mood regardless of what she is experiencing.”  

“Spreading awareness of OTC deficiency on Rare Diseases Day is important to us so that others can be educated and have an understanding of what Maggie lives with every day.” 

“We are very grateful for all the doctors and nurses at RCH. Our experience with the care they have shown towards Maggie has been nothing short of amazing.” 

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