With both parents being over 6 foot in height, we were expecting to have a tall child. At 4 years old, Claire’s height wasn’t unreasonable. By 7 years old, Claire was 160 cm and a full head and shoulders over her peers.
Like all kids, Claire enjoyed participating in kids’ sport, but due to her fast growth, her muscles were very tight leaving her with a unique running groove. Before a physiotherapist would help her stretch, he wanted a paediatricians “all clear”, which initially involved getting blood tests. These results identified that the growth hormone was elevated which lead us to see a paediatric endocrinologist.
An MRI confirmed Claire had pituitary gigantism from a 2cm pituitary tumour secreting excess growth hormone.Without treatment, her bones would never stop growing causing significant health complications and a shorter life expectancy.
Thankfully the tumour wasn’t impacting the carotid artery or optical nerve, and we had a small window of 6 months to try medical therapy. This involved monthly injections of Somatuline Autojel (Lanreotide) which unfortunately had little impact. At the time, Pegvisomant wasn’t available in Australia so I’m not sure whether that may have been more successful in delaying surgery (this is now available in Australia).
We then started preparing for surgery to remove the tumour and spoke with local neurosurgeons who weren’t confident of removing the whole tumour, and would target 80%. This wasn’t an option, because we’d seen that the medicine wouldn’t work. We needed 100%.
The game-changer for us was when our endocrinologist got us into a research protocol on pituitary tumours with the National Institutes of Health (NIH) in Washington DC. This allowed us to work with a world class team that knew this rare condition, and Claire’s situation would contribute to their research to help others in the future. Something that was amazing was within 6 months of Claire being diagnosed with a rare condition!
Dr Stratakis published a journal on this exact gene Claire had! X-lag Gigantism: https://www.nejm.org/doi/full/10.1056/NEJMoa1408028
A month later we travelled to the USA and spent 3 weeks at the NIH who confirmed Claire had pituitary hyperplasia and successfully removed the gland controlling the gigantism.
I am happy to share that 6 years later, the now 14 year old Claire is still in remission for gigantism and her full pituitary hormone replacement is successfully mimicking her peer’s puberty journey. She leads an active sporting life and is doing well at school.
Claire and her family are forever thankful to her endocrinologist and medical teams both in Australia and the United States, and hopes to one day to pay it forward.
WAPO wishes to thank Claire and her family for sharing her story!Leave a reply