Conference and Christmas trees

 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… 

Where did 2022 go?

 Until this evening, when I was prompted about this blog, I have to admit that it had totally slipped my mind. For a LONG time. But I was reminded that many people have followed our beautiful girl’s story for a long time, and are keen to know how she is…

Since I last posted, G has leapt from 8 to 10 years old. DOUBLE DIGITS. She had her first MRI, attended her first ever sleepover at girl guiding camp, achieved several medals in gymnastics and passed several stages at swim school, almost completed year 5 at school, had the pleasure of being flower girl for her auntie (soon to be flower girl for her uncle) and moved house-counties actually. 

Medical updates:

- Endocrinology: G has been having her routine bloods, and her most recent set showed she is negative for coeliac disease (something we’d queried for quite some time due to its prevalence in Turner Syndrome). Her IGF1 levels, which indicate the amount of growth hormone in her body, were stable if not at the high end. However her height has tailed off over the past 12-24 months, with her most recent 6 monthly check showing she’d barely grown a centimetre. As a result, her daily injection dosage has increased in the hope that we see a difference over the next 6 months.

- Growth hormone shortage: there has been a world wide shortage of G’s growth hormone Norditropin, meaning we’ve had to swap to a different growth pen. Thankfully it’s been a fairly simple transition, the only issue being that her new injection vials cannot be left out of the fridge for more than 30 minutes. Her previous pen, which she’d been on for 6 years, could stay at room temperature for up to 21 days (she had a new pen every 14 days, so that made life very easy!). 

- Cardiology: G had her annual cardiac scans in November, and it was decided that they wanted a clearer picture of her heart via an MRI. She has a bicuspid aortic valve, but it was also discovered that her aorta is widening slightly. This is common in TS, but must be monitored as there is a risk of dissection, so they wanted a 3D view. G was a superstar during her MRI in January-confined spaces, loud noises and the unknown are 3 things she does not deal well with, yet she nailed it!

The results of the MRI showed what her consultant already knew, and thankfully they are happy to continue monitoring her annually. However it was discovered that she had an incidental finding on her lungs. She is having a follow-up chest x-ray next week to see if that ‘cloudy patch’ that they found has cleared up. It is likely that she had an infection around the time of her MRI, but we all want to be sure. 

In other news…

G’s most recent parents evening was fantastic; we couldn’t have been prouder of our book-loving, endearing, maturing girl. 

Gymnastics continues to be a passion of hers, as does reading (the local library in our new town is one of her favourite hangouts).

Gluten and wheat is making a regular appearance in her diet nowadays, with little repercussions, and she’s very much enjoying crumpets, biscuits and French stick. 

We lost our beloved Winston back in March, so our family has been adjusting to life without our beloved  springador. Winston used to be G’s protector when she was a babe, that and her go-to toy for pulling/grabbing/chewing and poking! In more recent years G adored spending time stoking him, and generally chilling together. He’s missed beyond measure. 

Finally, we’ve been lucky enough to secure funding from a local charity to attend the Turner Syndrome conference this September! Due to Covid, the conference has been postponed for the past 3 years, so we cannot be happier to be day delegates at such an important event. 

I am sure  that so much more has happened since the last post in Dec 2021, but the most important fact is that G is happy, healthy and quite frankly a remarkable young girl whom we are lucky enough to be blessed with.