*Warning…this post gets a bit ‘sciencey’ so hold tight!*
A couple of weeks ago I got a phone call completely out of the blue from Lucia’s Consultant Geneticist and as soon as I realised who it was I knew she must have some news. However, I assumed it would be a routine ‘no news’ phone call, as to date nothing has been found to explain Lucia’s Lymphoedema. Well, I was wrong.
Here’s a little bit of background. When Lucia was around six months old we had our first meeting with her Geneticist which included taking lots of pictures of her legs and feet as well as a sample of her blood, my blood and Daryn’s blood. This blood was then sent to St George’s Hospital in London where they have one of the world’s top research teams who study genetics and the link to Lymphoedema. Basically they study one gene at a time to try and find something that could explain her Lymphoedema and each gene can take years to study because it is so complex.
In the last three and half years we have had three appointments with her Geneticist and spoken on the phone a couple of times. Through her, St George’s has given us two results. The first was to tell us that they had studied the most common gene known to cause Lymphoedema – the VEG-FR3 gene – which did not have any ‘alteration’ and was therefore not the cause. I remember finding this out and feeling really deflated. In our heads this was the problem gene as Lucia’s symptoms seemed to fit. At the time I really wanted this to be the answer so I knew what was going on and to take back a bit of control, as the not knowing was tough. But this gene wasn’t the answer and so the research continued.
The other test was an ‘array CGH’ test which explored all 46 of her chromosomes in a single test to detect any DNA imbalance and everything here came back as normal.
The VEG-FC gene
So then I got this phone call in work one Tuesday morning. The conversation started with her saying St George’s had found a slight alteration in the VEG-FC gene which is linked to the lymphatics and vascular system. As these words sank in I had to really focus on what she was saying – she is an actual genetic rocket scientist and I often feel like she is speaking in a different language. However, she was very good at explaining things at a basic level to give me an idea of what this meant though as soon as the phone call ended I had to write everything down to keep sense of it all!
In essence, the alteration may or may not be the cause of Lucia’s Lymphoedema. They need to do more tests and needed more blood from Lucia. I said of course, let us know when and where and we will be there, so we got an appointment for two weeks time. She also asked if I had any varicose veins (which I don’t) but I never thought anything further of this question.
When I came off the phone I had such a huge range of emotions. I felt shocked, happy, nervous, elated, teary, worried and hopeful all at the same time which I didn’t even know was possible. To think we may be on the road to finding the cause surely meant that we were more likely to be able to find a better treatment sometime in the future that could really help her? Most likely some treatment that hasn’t even been developed yet – but it would give us a fighting chance. But then the flip side of that was if it is a genetic issue what did that mean for her future? Could she pass it on if she had children?
So we headed to the appointment a couple of weeks later and before getting Lucia’s blood taken had a good chat with the Geneticist who went over things again. This blood was going to be used for more a more in-depth study to test the functionality of the gene – to see what it can or can’t do – and this should be able to tell us whether the altered gene is the reason for Lucia’s Lymphoedema. She then casually mentioned that I too carry this gene and have passed it on to Lucia.
I felt as if she had punched me in the stomach. I felt winded and everything seem to slow down. I almost felt like I was having an out of body experience and was so glad that Daryn was there to listen to everything else as I felt a bit numb.
I had potentially passed this on. My poor baby may have this horrible condition because of me. I may have given it to her. And did that mean that I could have passed it on to Max as well? Will they test him? I was catapulted right back to the months after Lucia’s birth when I spent months wondering if I had done anything wrong when I was pregnant with her to have caused her Lymphoedema – feelings I didn’t want to have again.
The rest of the appointment was a bit of a blur. The doctor asked to take photos of my legs and feet as St George’s had requested them before getting Lucia’s blood taken. She was an absolute pet getting it done with barely even a whimper from her. She was delighted to get a party bag for being so good and was told she was the best patient of the day…what a brave girl.
Questions needing answers
So right now there are a lot more questions than answers. This altered gene is a possible cause but as yet we don’t know so we can’t really get anymore answers. We did ask about Max being tested but until it is known whether this gene definitely is the reason they won’t do that, which makes sense.
We don’t know when we will get the results of this further testing either. It could be three months it could be a year or it could be more. Everything in genetics takes time – particularly with this type of testing and study.
The shock of the day has worn off and ultimately it is good that we are where we are. We are closer than we have ever been to finding the root of this condition and knowledge is power. When we find out the cause we hope that the future will bring a cure.