And breathe….. we’ve finally finished school for the Christmas holidays and whilst we are all exhausted, our hearts are happy.
G visited her cardiac specialist last month in Oxford, and her routine checks reassured us that everything is well in the heart department. She will always have her bicuspid aortic valve (it should be a tri valve, like a Mercedes’ badge) but it’s functioning well and needs no intervention currently.
An MRI is still on the cards as it is imperative that they see the heart functioning in 3D, but equally they hope to get G to an age where she can have this procedure without being knocked out!
Her routine endocrinology appointment was cancelled last month, so we are still awaiting a replacement appointment. Whilst it’s not urgent, it is important for them to have up-to-date knowledge of G’s height, her bloods and her growth hormone levels in her body.
We also wanted to ask when we can start injecting G into her thigh or tummy as opposed to her derrière. Though given how slim and muscly she is, I’m not sure any injection site will be particularly pain-free. She’s been on her daily injections for a few months shy of 5 years now, and although she’d stop it in a heartbeat, she understands the implications of doing so. Her growth hormone not only aids her height so that she may reach the lofty height of five foot, but also helps her bones, her muscles and her heart. We thank God for this costly yet vital treatment, which is free to G on the NHS.
Another important topic of conversation over the next year or so will be when they can investigate the development of G’s womb, and her ovaries. With full Turner Syndrome (as opposed to mosaic) it is incredibly unlikely that her ovaries will be functioning but it’s important for them to be scanned.
In other news, Daddy finally succumbed to Covid and tested positive a few weeks back. Thankfully he had no symptoms and stayed well. So that is all 4 of us now. Hopefully the Covid antibodies, plus 3 vaccinations will be enough to safely see us through the winter. And a vaccination may be on the cards for G in the not-too-distant future if she is categorised as one of the vulnerable 5-11 year olds that a vaccination has recently been developed for.
Lastly, we were recently lucky enough to enjoy a trip on the Santa Express at Great Central Railway courtesy of the Sandcastle Trust. G and H had the best time! We’re very grateful to this amazing charity who gift to children/families of those with rare diseases. Huge thanks Sandcastle Trust ❤️
We wish everyone a restful Christmas, and hope that 2022 is filled with love and kindness.
