I was expecting it. We said we'd be back to see nates geneticist around the time he was two. But, you see, this is a biggie. He has a neuro appointment the week before and both neuro and genetics want to pool their ideas combined with another MRI and a muscle biopsy and come up with a diagnosis.
I have confidence in our neuro. He never mentions the future. Never says what Nate will or won't do. Just always asks that we have the right equipment and therapy. We first met him when Nate was 1 week old and we see him every six months. He notices everything- even subtle changes in how Nate holds himself. Our neuro wants Nate to have another MRI. He's already had 2. This is necessary as, apparently, the white matter in the brain should be laid down now. And damage that may not have shown previously may show now. So I'm really looking forward to the general anaesthetic and then the results....
And then there is nates geneticist. The less said about this person the better . But on a professional level I would like to say- my son is not a piece of meat and we are not to be talked down to. Please don't harp on about his odd/unusual/dysmorphic features. When I'm sitting kissing the living daylights out of him he's my perfect little boy and I don't see ANY of them.
Please don't suggest any more diagnoses he "might" have but you're not sure. If it involves more X-rays, scans, blood taken we will be out that door. We have been scared and terrified by you before. He is a person-a lovely little boy. Please treat him as such.
These 2 appointments may tell us a lot or a little. I'm not sure which terrifies me more. Part of me is happy bimbling along, dealing with things day by day week by week. But there is the shadow of the unknown hanging over our shoulders all the time. The-what will happen? Will he? Should we? question. I have had the pleasure of meeting (via fb and twitter) several parents of children who have a diagnosis but it's something so rare that having a name doesnt really help. Although they, when asked, can give proffesionals the name of their child's disorder/syndrome/special quality, the professional looks blank having never come across it before. I hadnt thought of that. To be honest it's the life expectancy thing that we would like to know. But would we? I mean could we prepare? Can you? Would we do anything differently? No probably not.
You see I'm rambling on. This is what these big appointments do to me. Things I try not to think of are brought to the forefront of my mind. I know I need to think of the here and now and be pleased with how Nate is doing but I'm terrified.
:( Appointments like this really are horrible. I find it very hard to hear them list all the dysmorphic/unusual/odd/strange features that Freddie seemingly has. We are at the time of year when we seem to be getting all the horrible appointments coming back round. They play on your mind & i find i struggle to sleep. Nate really is a lovely little boy & i hope all goes well xx
ReplyDeleteYes words like 'unusual' and dysmorphic features still get mentioned to me regularly. In fact I feel oddly comforted that it's not just my child. My daughter has a completely unknown life span, but is now so healthy that she could live a long and happy life :) and so could Natie x
ReplyDeletebig hugs Rach (and Nate and Thea too). xxx
ReplyDeleteEven relatively well-known syndromes - Edwards syndrome comes to mind - which have an 'average' prognosis have people living with them who've blown that prognosis firmly out of the water.
ReplyDeleteEdwards is a good example actually.
With prenatal diagnosis, parents are usually told that it is 'incompatible with life'.
Dig a bit more, and they tell you that 10% of babies born with Edwards syndrome live to their first birthday.
Dig further, and they tell you that 10% of those babies see their 10th birthday.
What they don't tell you is that those percentages are decades old, from an era when it was still acceptable practice to withhold food from severely disabled newborns, let alone home oxygen, heart surgery or PEG feeding if that's what they turn out to need. And they also don't tell you that the oldest known person who definitely has full Edwards Syndrome is in their late 30s!
Which is to say... these prognoses? They're mostly nonsense. They don't tell you useful things like which gadgets might be useful, what support to ask for at nursery, or which In The Night Garden character they'll like best.