Tuesday, April 10, 2012

Well, According To My Research...

August 24th 2011

Yesterday afternoon we had Louise's appointment in the National Centre For Medical Genetics which is based in Our Lady's hospital, Crumlin (imagine,all these things that are going on in the country that you never know about, interesting.) I didn't really know what to expect and just guessed it'd be a matter of taking our bloods and some talking. My guess was pretty accurate apart from the bloods. We met with the Professor of Genetics who had already seen Louise when she was in hospital immediately after she was born and another doctor.

He really just discussed what we already knew about PHACE Syndrome and said that they don't know whether there will be any extra implications for Louise in the future as PHACE is very rare and was only named in 1996 so there have been no long term studies to date which is why they are very interested in following up every case like Louise.

He said that although PHACE seems to be genetic, so far there is no evidence that it's hereditary so there's no need for any of the other children, or indeed Louise, to worry when they are having children that this could happen again. There was no need to take any more bloods from her as they already have her DNA, genetic and chromosomal reads from her cord blood which was collected at birth. Incidentally he said all her results so far have been normal, which is good. As we know, finding a gene when you have no idea what you're looking for is like trying to find someone in Tokyo when you don't know what they look like, what their name is, where they live or where they work.

So they'll hold onto the DNA and hopefully it will produce with some medically useful gems, maybe she might even get a gene named after her...'Beautiful Louise Gene' sounds good. Wouldn't it be nice if parents could be told their child has 'Beautiful Louise Syndrome', or 'Very Very Special Caleb Syndrome' or 'Best Little Girl Gracie Syndrome' instead of scary sounding things like '5-ALA dehydratase-deficient porphyria' or 'B variant of the Hexosaminidase GM2 gangliosidosis'
Well I think so anyway.

As regards bringing forward Louise's MRA, I don't think it's a runner. He said it's not his decision to make but he doesn't think they'll do that. The reason for this is an MRI or MRA for a child is not like for you or me being told to stay still for the duration of the scan, it involves a general anesthetic which of course has risks involved, so they wouldn't give a child one just to get information if they weren't going to act on that information. He said that because Louise is well and not having any neurological problems so far there's no way they'd start going in to surgically cauterise or drain any dilations for fear of actually disturbing her status quo, rather they'd just monitor her and her aspirin is protective anyway. They would only do surgery to relieve a problem and he has seen children with PHACE who are very neurologically unwell which doesn't apply to Louise. I suppose it's what I wanted to hear and it's not what I wanted to hear. Anyway, they are the doctors, I'm not, and I know one thing for sure, EVERY single doctor she's seen since she was born has her best interests at heart.

(actually now that I'm writing this, I'm thinking there's ONE doctor who was involved in my pregnancy who I'm going to write to tonight to thank her for being such a comfort in the midst of so much darkness, she was a Fellow of Fetal Medicine and she used to take me aside at the end of the visits and say things like 'it's sooo exciting, she's going to be a beautiful baby girl' and 'she'll look just like the other children, they'll LOVE her' I wonder how many lives she has saved just by saying that sort of thing?)
So that was more or less the genetic visit, he just photographed her face marks and asked us then for permission to hold onto her DNA for research and would we mind if they called on us for students etc to study her case. I refused. Ah no, that's a joke, of course I agreed (in fact I'd be a bit chuffed to tell the truth)
Well, one thing I'm learning as we go on...in some ways Louise was unlucky to have pulled the short straw, but in so many ways she is so very lucky in that she could have been so much worse.

Thank You, Thank You, Thank You God.

Louise Gardening In Scotland

I Love Ireland...Then Again, I Love Scotland Too..

1 comment:

  1. Megan Says:
    Jennifer, In so many ways that must have been a relief. Louise is a beautiful treasure and you are walking an unknown road- as so many of us are. We may be walking blindly, but we have a God who has a plan… and Louise, Caleb, Gracie are all special parts of that plan…I love Louise as I would my own niece…. and I love you and your family. We will all walk on together. xx
    August 24th, 2011