Saturday, 26 March 2016

Report from the Geneticist.

Today we had an initial report from the geneticist we saw in February.
It says that she looked at Lucy for signs of a connective tissue disorder. She found that she has some mild facial features of a connective tissue disorder, a mild curvature to her spine, her skin was soft and she had lax ankles but her overall joint hypermobility score was only 2/9.

She believes that Lucy's history is in keeping with a diagnosis of hypermobile EDS but wants to exclude other connective tissue disorders. She is requesting a heart and eye assessment.

Lucy has long limbs, long fingers and toes and with her facial features and curvature of the spine it looks like she may have Marfan Syndrome. This could mean problems with her heart in the future and this is why she needs a heart assessment.

We've never really thought there was any reason to think their was anything wrong with Lucy's heart or eyes. However, I can see why the Dr wants them tested, and if it is decided that she has Marfan Syndrome then they will keep an eye on her heart.

I'm not sure how I feel about all this. I was happy that we were referred to the geneticist because at the end of the process we should have a definitive diagnosis. I really thought that she had hypermobility type EDS and I was looking for confirmation of this. It surprised me that she wasn't found to be as hypermobile as we thought. She could still end up with this as her final diagnosis as she does have some hypermobility and has suffered subluxations.

We knew that it was possible that she might have a different type of EDS which is why we thought it would be good to find out now rather than later. To be forewarned is to be forearmed, so they say. Now I find myself struggling to know if I will be able to cope if there is something more serious to be worried about.

There is some cross-over between kyphoscoliotic EDS and Marfan Syndrome, and genetic testing can be done to find out if either of these are present. With either one there are physical features which lucy is showing as well as some hypermobility. Both of them can present cardio problems and eye problems.

After all she has been through already I'm hoping that her physical features are just coincidence and that nothing else is found.






Wednesday, 2 March 2016

Back to the Poo Doctor

Well, we managed to give Lucy a clear out over the Christmas holiday. It wasn't pleasant, I'll spare you any details. Anyway since then she's been on Movicol twice a week to keep her going regularly.

Yesterday her dad took her back to the hospital to see the gastro doctor and basically he's shaking his head as he doesn't have a clue what's wrong with her. Her blood tests came back normal and he can't give us any answers. He's not wiping his hands just yet though. She's been referred to occupational health and he's also asked for her to be seen again by her psychologist.

I really hope they are not going down the road of it all being in her head. We've been there before, we've tried every trick in the 'psychology' book, more than once. It may be a combination of physical and psychological but it's definitely not all psychological.

I know the best way to treat this sort of problem is to evacuate on routine, i.e. at certain times of the day. Ironically, it's what I'm doing at the moment as I have complete lack of sensation in that area. It does seem to be working for me but our main problem in getting it to work for Lucy is actually getting her to sit on the toilet unless she's desperate to pee, or has soiled herself. Try and get her in the bathroom when she doesn't want to go in and we have meltdown city.

So at the moment there doesn't seem to be much hope, but I won't accept that, I'm forever hopeful.

One day we will know why this is happening and someone will come up with the answer.

I hope that one day is soon, at the very least before she moves up to secondary school. Her accidents at school are becoming more frequent. In fact I would say she has got much worse in the last year.

I just really wish that the Doctors would look at my zebra and stop thinking she's a horse!