It’s hard to believe that January is almost over already and after the blissful quiet time we had at Christmas, things have been mad! Max turned 6 last week (how did that happen?!) so we had a bit of party planning to do as we hired out the village sports hall and had 25 crazy kids going mad! It was well worth every second of preparation (thanks to my mum and sister for the help!) as Max had a fantastic time with his friends, cousins and of course little sis! He dressed as Spider-Man for the big day and he was the perfect superhero as he looked out for Lucia during all the games. He is too gorgeous!
Lucia loved every second of it as well and was in the thick of it all. She spent a full hour running around the hall and kept up with everyone brilliantly considering she is only 2. But best of all her Lymphoedema didn’t bother her at all. It was probably the most intense exercise she has had at any one time so it was fantastic to see her going for it and not holding back. She was exhausted afterwards but her wee legs didn’t cause her any annoyance, woohoo!
Last week we also had a hospital appointment with our Genetics Consultant. We last saw her when Lucia was only about 6 months old but have had a few emails, letters and phone call updates in between.
Brief genetics history: Lucia, Daryn and I all had blood taken and sent to St George’s Hospital in London for testing. Genetic tests have been ongoing as part of a long term research project for the last two years or so to try and identify if Lucia has a faulty gene causing her Lymphoedema – so far nothing has been found.
The most common gene that causes Primary Lymphoedema is called VEGFR3 and with the symptoms Lucia has we thought this was definitely the gene that had gone a bit wonky – but it came back fine. A few other known genes have also come back ‘normal’ but I’ll not go into too much of the science as to be honest it confuses me.
Testing and more testing
So the testing continues and the doctors are potentially looking for something new and unique to Lucia. So she may even have something named after her!
This most recent appointment was just a check up. The Consultant had a good look at Lucia, took photos for her records, checked my feet and legs as well as Daryn’s and Max’s and told us about some new genetic research programmes she was hoping to get Lucia onto.
We are more than happy for her to be part of anything like this as the more people looking means more chance of finding out what is causing her Lymphoedema.
Genetics is so unbelievably complicated but so important in our search for the cause. My blood and Daryn’s blood is also being studied because we still don’t know if one of us potentially carries a random faulty gene that we have passed on.
Our hope is that someone, somewhere, with the brains of a rocket scientist will find something that explains what happened. We know that this is probably a long way away but we are happy knowing that the right people are looking into it and keeping us up-to-date with any progress.
So it has been a busy and productive month so far. Plus, we are back at work, school is back as well as all the extra activities and it snowed so we got to build a snowman after singing about it for weeks! Any Frozen fans?!