A Catch Up

Sorry I've not updated for so long. I really must keep up with this as it has been a great help in the past for me to have every logged in one place that can easily be found.

I have a shoebox full of letter, hospital appointments, assessments, diagnosis' everything in one place. But sorting through it can be a pain, and it's not a very detailed review of everything.

There is so much that has happened since last summer when I made my last post.

I've recorded some things on my main blog www.raisiebay.com  so I can point to some posts I've made there.

Lucy is getting on well at school but the only thing holding her back is her attendance. It's not awful, but it's not good either. It can't be helped, she has a lot of health issues. Here is a post I wrote about her being in Mainstream School.

Here is a post about her Elhers Danlos Syndrome for Rare diseases Day. She had genetic testing done last year which showed that she didn't have any genetic disease that would affect her heart. We have yet to speak to anyone about the results but it does seem to rule out Loey Dietz Syndrome but she could still have Marfan Sydrome.

She had a visit to her neuro consultant about her neck and without even examining her he said she looked fine and would see her next year. I guess he's only there in case something does go wrong, and everything does seem to be going well.

She has developed a clicky jaw though, sometimes it locks in place. The Dr said he could feel some inflammation in the joint and she has been referred to a maxillo facial consultant as she may have Temporo mandibular joint issues. My eldest daughter had the same at the same age, isn't that weird? My eldest went to the hospital every month for a year but they never really did anything that helped her and she still has issues now!

We are still having bowel issues, I don't want to go into too much detail but at least we have a better understanding of what is going on, and there is help available, it's just taking a very long time to get it sorted.

This week she had a treat at school for best behaviour and won an afternoon of Harry Potter film and pizza, how lovely is that!

I'll be writing more frequently from now on, not only do I wish to record Lucy's progress with her TMJ, but The Little Man is now having issues and I'd like to record what is happening to see if we can get him some help. More about that later.

Thanks for reading x

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.