Genetics part 1: a love affair

As you probably know, since we found out about Will's hearing deficit I have blamed myself. It's hard not to. The way I saw it, I built him in my body and therefore it was my body that had failed him by building that particular bit to a substandard level. I use the past tense in that there sentence because I no longer feel like that to that extent. It's taken a lot of time and blogging but I have, for the most part, accepted that we can't change it and blaming my self was helping no-one.

We recently learnt that Will definitely has Pendred's Syndrome; a genetic defect affecting his vestibular aqueduct and cochlea.

For this to happen, Shaun and I both have to carry a gene defect that when paired with the same, create the syndrome. It has to have been in both of our families for generations, hiding silently. Lurking.

I sometimes thought that if this turned out to be the case I would resent him. I thought I would resent the universe for bringing us together. I thought I would be angry. And I thought I would doubt our relationship and our future.

None of these things happened.

I felt guilt. Horrible, drowning, suffocating guilt. I felt sorry. So very, very sorry. Sorry for saying hello on the stairs. Sorry for sending flirtatious emails (we met at work). Sorry for letting him fall in love with me. Sorry for having the gene that, when it met him, meant he had disabled children. Sorry for not being one of the millions of other girls he could have met. Sorry for having the gene. Sorry for ruining his life, for making it that much harder, for causing him all this pain.

Guilt, a mother's ruin.

But not sorry I met him. Not angry I met him. Not sorry I fell in love with him. Not angry that he made my children disabled. I felt bad for him but not bad for myself.

It made me love him that much more. There is no-one I would rather travel this journey with.

Blood tests and a super hero

Did you read my recent post about going to the doctors?

Well today surpassed all of that pride I have felt over recent trips. Today Will had a blood test as part of his genetic testing to try and find out what it is (if anything) that has caused his hearing loss and if it will affect future children of ours.

This is his shirt, and I can tell you that the badge does not do my wee boy justice.

We went in and Will was placed on my lap with a cushion on his. The nurses rolled up both his sleeves and chose his left inner elbow to take the blood from. We discussed anaesthetic but because of his eczema the cream would have taken an hour to take effect and I didn't want to hang around that long, so we went without. Eeeeeeeeeeeeekkkk.

There was a 'play expert' with bubbles and a finger puppet kitten to distract him - he was having none of it.

Will watched the needle go in to his little arm, watched the skin around it turn red and fiery and watched the vial fill up with his own blood.

He made not a peep. He had no dummy, no snacks, no distraction, and there wasn't a tear in sight.

The staff were astounded.

And then, AND THEN, when they had removed the needle and put the plaster over the hole, he offered them his other arm to do the same to that.

I am pretty sure that gives him super hero status, in his Mummy's eyes at least.

Doctors

We have been to a lot of doctors recently. We have been sick. Really, really sick. Just your average winter cough, cold, ear infection, flu type sick but it's been rough. Probably because this foetus takes enough of my energy to make me feel like crap every day anyway, let alone when I'm fighting off germs and bugs and tending to a toddler (who reverted to sleeping like a newborn, i.e. not, for a few nights) with germs and bugs also!

Anyway, as well as that we have had hearing tests and genetic testing, both of which took up a lot of time and a lot of head space. But I won't bore you with them, what I will tell you about is how is how brave and how wonderful my William is.

At his hearing test he was a complete star. Have I mentioned to you that the hospital we go to is rubbish? Well it is. Rubbish at everything but in particular rubbish at paediatrics, which, when you think about it, is pretty key, what with Will being a kid and all. But he put up with their prodding and poking and taking his hearing aids out and putting his hearing aids in and out and generally taking forever to mess him around.

And then again at his genetic testing he was again, wonderful. Brave and patient which I think you will agree are two massive achievements for an 18 month old. The testing was at Great Ormand Street which is the leading children's hospital in the country so the care was fantastic but I still think that he excelled himself in how calm he was throughout.

But the real stories came from when we went to the GP.

At the genetic testing the doctor had used a stethoscope to listen to Will's tummy and chest. A few days later we visited the GP and there was a stethoscope on her desk. While the doctor and I were talking Will had picked up the stethoscope, lifted up his top and started to try and listen to his own tummy. My heart actually bled with how cute he looked and how clever he was for remembering and re-enacting.

And then back to the GP a few days later where she used an otoscope to look in my ears

When she was done, Will picked up the otoscope, used it to look in both my ears himself and then took out his hearing aids and put it in his own ears! Again, so very, very cute and clever. 

Both of these occasions have brought out an mixture of emotions for me. First, as I hope came through above, is pride at how smart Will is turning out to be. He has seen and been the subject of at otoscope enough timers in his short wee life but I still think it's amazing how he used it to look in my ears and then his own. And the same for the stethoscope. I love how these things don't upset him, or make him angry. I love how he takes them in his stride and wants to use them on other people as well as himself. And I especially love that we can use the stethoscope to 'listen' to the new baby in mummy's tummy.

But it's the guilt that breaks me. The guilt that he even knows what to do with either of those medical instruments. The guilt that he thinks that they are part of life. The guilt that they aren't for most other children. The guilt that my baby has to go to all these different hospitals in the first place.

But for now I will try and focus on the bravery and the cuteness and my wee boy listening to his baby brother or sister inside his Mummy's tummy. Because those things make me cry in a good way!