2019 is QUITE a long time ago. That’s the last time that we were lucky enough to spend quality time with other Turner Syndrome families, and learn from incredibly knowledgeable, passionate professionals.
So 2023 annual conference was going to be emotional….. we came away from our day at the October conference exhausted, elated, happy-hearted, brain overloaded and so incredibly thankful for such an amazing charity. G was 6 years old when she last attended, and now at the ripe old age of 10 she’s so much more aware of her condition and keen to spend time with other girls who experience life as she does.
I came away armed with a plethora of information, which soon came in handy as we attended G’s six-monthly endocrine appointment. We discussed her transition on to hormone replacement therapy-in particular the age at which we start her on the treatment (which is something that myself and her endocrinologist have disagreed over in the past). HRT will bring on puberty for G, and over the course of 2.5 years will allow her to develop in the same way as her peers via oestrogen and progesterone patches/pills. Due to TS, her body does not naturally produce enough of the sex hormones.
We also discussed certain scans and blood tests that G should be having but perhaps have not been known about by her local consultants. A kidney scan is first on the list.
Lastly we discussed how to proceed given that G’s growth is still fairly stagnant (and has been for over 2 years DESPITE incremental increases in her daily growth injections). Her IGF1 levels for growth hormone have always been at the very top end of normal, so yet again with another increase just prescribed we need to be incredibly vigilant for side effects like headaches which could indicate a more serious condition.
Next week we have our annual cardiac visit to John Radcliffe, Oxford. Hopefully G’s bicuspid aortic valve is behaving and her aorta has not dilated any further since her MRI. A local hospital appointment is on the calendar for tomorrow, which we almost forgot. Oct/Nov seems to be busy appointment wise!
Speaking earlier of amazing charities, we have been gifted a Christmas treat at Warwick Castle from The Sandcastle Trust’s Sandcastle Santa this December. Another amazing charity that do wonderful things for people with rare chromosomal disorders. Not forgetting to mention that it was a local charity that paid for us to attend the TS conference, for which we are eternally grateful.
Lastly (and less importantly but more excitingly), we picked our Christmas tree yesterday! Oh shush you Grinches…
As always G amazes us daily: her resilience, humour, passion for reading and love for her family. Thank God for such a superstar 💜 Oh and I think she wants a cat…
