I wrote down the story of how we discovered that Liana had Turner Syndrome, because we regularly give updates on how she is doing, but not everyone was with us from the beginning of this journey. My hope is to give a well-rounded picture of her condition, her development, and the decisions we are facing. Sometimes talking about different tests and hospital appointments can sound quite dramatic, so I was hoping to explain that it is real, there are difficult decisions and situations we have to face, but it’s in no way debilitating or life-threatening for her or us. The appointments and tests have become a fairly normal part of our life now and she is a child as happy as can be. If she wasn’t as small as she is, nobody would suspect there anything to be different about her.
This is her story:
Liana was born in Feb 2018 as a tiny, beautiful, healthy child. From really young, she was social, friendly, and visibly enjoyed having people around her. I remember very clearly how she responded to Acksios’ voice within the first few days after she was born. She seemed to develop a little on the slow end, but not in a way that we were overly worried.
Around Christmas in 2018, when she was 10 months old, we started to wonder about the size of her head. It seemed to have grown quite fast and had been on the larger end since she was about 6 months old. But when I was not able to get a t-shirt over her head without force, that she had worn just a week earlier, I started to get worried.
Just to say it right away, her head is completely fine. We got that confirmation about 9 months later and the final all-clear last year, in September 2020. The fluids are at a normal level and there are no growths or anything else to be worried about.
Her head is still on the large end and was un-proportionally large compared to the rest of her body at that time. But on top of that, she was also quite behind in her gross motor development, and slow in her speech and her fine-motor skills. All of these on their own would have probably not worried anyone, but the combination of these factors led to a series of tests to make sure that there wasn’t anything seriously wrong with Liana’s head. As the tests kept coming back clear, without any explanation on what was going on, we decided together with the paediatrician to have a DNA test done just to rule out that side of things. The test took about two months and came back when we were on holidays in Korea, visiting Acksios’ parents.
A genetic counsellor contacted us, and we set up a time to call her because she could not give us the results via email. At that point, we were sure that Liana was completely fine and was simply developing a bit slower than usual. We were not prepared to hear the counsellor say that Liana had been diagnosed with a genetic condition called Turner Syndrome. That came like a punch in the gut and was a shock to hear and process. Turner Syndrome is a random mutation of the second female X chromosome.
If you are interested to understand more about Turner Syndrome, I found this short video helpful and clear.
The following months were filled with standard tests that needed to be done to establish how the condition was affecting Liana specifically. Because it is a genetic condition, there is a general picture of what it looks like but many different variations of how severe the condition is in each individual. Thankfully, it does not affect her cognitively at all, which is almost a bit ironic considering that it was her head where we started all the investigations. It can affect many of the organs though, the blood sugar and thyroid and does almost always affect their growth. Amazingly, most of the tests came back clear!
As we shared with friends about Liana’s diagnosis and as we kept going from one hospital appointment to another, many people started praying for her. At that same time, she made a big leap in her whole development! Her speech started to pick up, to the point where she is amazingly articulate now; her gross and fine motor skills started to accelerate, and her whole appearance seemed to normalise.
When we came back to Australia, our paediatrician’s first comment was: “This is a completely different child than the one I saw 6 months ago!” Liana had changed and improved so much! I have no doubt, that this was all due to the many prayers of the many people who stood with us from that time on.
Where we are at now
After a few more tests and appointments here in Australia, we are now on a schedule of yearly and 2-yearly routine appointments where we will continue to monitor Liana’s organs and blood. Turner Syndrome is a condition that progresses over time, but chances are very good that she will hardly be affected by it in her daily life.
We will have to decide next year (2021) if we want to start her on growth hormones or not. Her height is “off the charts” on the bottom end, but in the 50th centile for the Turner Syndrome specific growth chart. It is a surprisingly difficult decision to make. If you are interested in our process and thoughts, Acksios wrote a short article about it.
Other than that, we will continue to enjoy the fun, caring, kind and cheeky person that Liana is. She brings a smile wherever she goes and has an amazing way of roping in complete strangers to become her friends.