Gene test for Megs

[charlie]

Hooray, we saw the gastro consultant today and I went armed with info and a typed sheet of what is going on. I asked if they are absolutely sure it isn't HFI as I didn't think they had tested properly for it and he agreed they hadn't and they should. So I went abracadabra and whipped out the forms Addenbrookes hospital had emailed me and he has completed them so Step 1 completed.. Gene test on its way.

Step 2, get the blood........ another day.........

For now we have agreed to cut back on the diet again, I can easily cut out the fruit and veg they added in..... but the sugar..... that will be for another day too....... anyone fancy having her to stay for a while......

[esmee]

That is great news.

[charlie]

That's it, I've had it. The ****** hospital has lost Megs blood sample, so politely waiting the 40 days for an answer for nothing.................................................................... *********************************************

Now got to get blood again...............................................
****************************************************

As you can probably tell .................... I'm not happy

[colormist]

How the heck did they lose a blood sample?? Also, Fred mentioned that they can do a mouth swab to test for HFI. Maybe offer to do several mouth swabs--just in case they lose those, too.

[charlie]

It's OK, not lost, just sent results to the specialist who asked for the test rather than the hospital that took the blood. Had hoped, once I had calmed down, that that was what had happened and they just hadn't cross-referenced.

Lucky I rang back about it though, as spoke to secretary on Thursday about it, when I rang back today I discovered she had retired on Friday........ obviously hadn't passed message on. So lucky I didn't drag the poor child back for more bloodsucking straight away...... Can't tell me results over the phone....... so still waiting........ but more calmly................

[charlie]

Finally got gene test results, no mutations detected but doesn't rule HFI out still says the report so back to the drawing board, got appointment in London next month so will see what else they say there.

Had another 2 food reactions both quite bad by her sneaking foods over the past month so definately very sensative still which makes me think more than FM or very severe FM.

We had a big meeting at the school which I was very grateful for as apparently they are hard to get, basically everyone involved in the childs care is supposed to come or send information for it so we all start to work together. Her pediatrician did come which was good but basically the info there was she has a problem with fructose but her diet should be enough to sustain her through the day, but it isn't so school have been told they must give her milk half way through the afternoon session to see if that helps - they will try it for 2 weeks and see what happens.

School will support her a bit differently with her writing as that is still a major hurdle for her, apparently she is full of ideas then won't put them down on paper without alot of coersion, but does that mean she has run out of brain fuel doing the thinking or she has a learning problem affecting her writing completely separate issue?? Don't know they said.............

But did lay it on the line, I have a child who is tall, beautiful and glowing and some days on the ball and delightful, other days is exhausted, pale and very irritatable and I don't know what is causing it, she is also at 9 1/2 years old very wet every night, the medication to stop that hasn't worked and I have to sedate her to get her to sleep. Oh yes, and every so often she passes out.......................... Something ain't right, I can cope with one of two things on the list but the whole shebang is just a bit too much.......................

See what London says in July, meanwhile back to being a domestic goddess with all my homebaking and recipe tweaking to keep this kid fuelled, and clearing out the cupboards of anything she shouldn't eat for now..........

[meaniejean]

I've been looking on here every so often to find out about the gene test for Megs. So sorry you still do not have any answers. Cal was so much like Megs before he started the colchicine for Familial Mediterranean Fever (I'm still not convinced that is what he has, but the colchicine has definitely improved his life dramatically and the rheumie is convinced). The major thing we still have going is the nighttime wetness. We notice that excessive protein is an issue with that, but we're not sure why (perhaps some kidney issues). Does Megs get fevers or has she ever had any inflammation issues??? Cal would get fevers, tummy aches, joint pains and rashes, though not always at the same time.
Thinking about you and sending hugs!
Best,
Sandra

[meaniejean]

Oh - and just read an article stating that people with FMF are especially susceptible to H. Pylori which I remember Charlie had early on ...

[charlie]

Hi Sandra
Great to hear from you. Thanks for the hugs, sleep deprivation kicking in at the mo so back on the roller coaster. We are trying to crack the night-time wetting still and she is trying a bed alarm at the moment. she wasn't having any of it clipping it to her so I have improvised and put a pillow case in the right area on her bed and clip it to that as it isn't a mat sensor. Trouble is I can't sleep in anticipation of it going off. The first night she unclipped it and pinned it onto her pillow................ When I checked her before I went to bed I clipped it back on to her but she woke up and started shouting and screaming. Anyway she must have unclipped it again and put a nappy on as she had a lovely nights sleep after that, I on the other hand, worried I may not hear it, didn't.....................

The next 2 nights she was very suprisingly dry so maybe the medication is starting to work... but I of course still didn't sleep fully. Then last night I slept well but woke up to what sounded like a car alarm going off and realised it had gone off so at least I know it works. The idea is to see if she always wets around the same time and is it once or twice in the night as you can't tell with pull-ups on. Last night it was 1 am.

I have read about high protein being a factor - more in kidney problems and of course her diet is quite high protein but what else can I feed her. I hope it is just a normal developmental delay but with everything else going on eg slowness and struggling with work at school I am starting to wonder.

Anyway, big yawn, we will persevere and you never know the alarm may work.

Great to hear from you and glad life is improving for your lovely boys.

[carolyn]

Hi Charlie
You must be terribly tired. I feel for you. Hugs from Devon also. Our 20 year old son has had CFS from 14 years old, so I know what being up in the night is, when they reach an age where you don't expect it any more. He's a little better now than at first and our waking was not through wetting, but anxiety & being unable to sleep. It feels wrong to be sitting up at night holding the hand of your poorly child at an age when he should be out on the town! I hope the alarm works for you both.

[Sherry Selfe]

I just read your message. This is my first time visiting this board. MY daughter is 9 years old and has been diagnosed with fructose malabsorption, but I too am questioning HFI. I am not certain that the hopsital has tested for it. Your daughter's story sounds so completely similar to mine. I would love to speak to you or anyone - someone about this! I am struggling mightily. I would like to know what led you to have your daughter tested for fructose intolerance too. Our story is long and it is after one a.m. so I won't post tonight, but I would really really like to hear from you.

This is the passage that I could have written about my own 8 year old daughter word for word. "But did lay it on the line, I have a child who is tall, beautiful and glowing and some days on the ball and delightful, other days is exhausted, pale and very irritatable and I don't know what is causing it, she is also at 9 1/2 years old very wet every night, the medication to stop that hasn't worked and I have to sedate her to get her to sleep. Oh yes, and every so often she passes out.......................... Something ain't right, I can cope with one of two things on the list but the whole shebang is just a bit too much....................... "