Results from genetisist!!!!!!!!!!!!!!!!

[butty]

Oh well, yet another dead end has been met.

After the genetisist being 95% sure NOTHING, NOTHING at all.

Everything is clear!!!!!!!!!!!

Dylan has been dx'd as quite severe ataxia the other week and steps are being taken to help him.

He is having a really bad spell at the moment so much so that the other day he fell and knocked his 2 front teeth into his gums.

He has had to have them both extracted down, but we dont yet know if he will keep one of them or not

Bsck at the dentist in 2 weeks.

So for the mean time i have to confide him to the major buggy to prevent him falling again whilst the teeth get stronger as both wobbly!!!!

He has also been referred for more tests which are ajillity ones and the neuro is rechecking his mri scans as she thinks that something has been missed when last neuro checked them, so yet again, we are heading down the route of CP.

I am so fed up at the moment, i have accepted that he has special needs and disabilities and all these tests don't mean a thing anymore other than more stress and anxiety of waiting!

Sorry to rant, having a bad week.

Butty.xxx

Hi

I'm fairly new on here. My dd is 3, and has a rare genetic condition called Marfan Syndrome. This was diagnosed via a genetic test when she was 1 year old.

This affects her connective tissues around her body, and gives her very loose joints so she falls over a lot.

She went flying (whilst trying to run after her healthy brother) just before Christmas. Her top 2 front teeth were knocked right up into her gum like your son's were. The dentist panicked, as Katie's Marfan's means that any dental problem is more likely to cause endocarditis and put further strain on her heart. Talk about stress!

She's now under Birmingham dental hospital's care, the teeth haven't fallen out (yet), but seem to be coming back down. We've been warned that she could still lose them, or that her adult teeth might be damaged. As she is already "different" to other kids, it was sort of the last straw for me.

I fully understand what you mean about having a bad week. I felt so horrendously guilty when Katie fell over, even though I couldn't have done anything to stop it.

I hope that you get some answers from the doctors soon, take care.

S xx

Butty ,so sorry to read this,I know just how you feel about the tests,I find that i now assume taht they are not going to find any thing so then I wonder why are we doing this.We are still waiting to hear,it has been over a month now,not sure if that is good or bad news.

Poor you and poor ds over the teeth I hope they start to heal soon.

Sorry to read about your son's problems, Butty. My DS fell on his scooter when he was 4 and one of his front teeth became v blue but luckily it's OK again now. We don't know if it will affect his adult teeth. He is profoundly deaf and wears hearing aids - like Tomkat, this additional thing really got to us.

Philly - IME genetic results take forever to come through. In my DS's case we knew what the possible cause of his deafness might be, so the dr wasn't looking at a huge number of things, only one gene, but even so it took about half a year. We found out later that it's because the hospital only sends the tests out in batches, so they waited until they had a sufficient number of cases to send for testing.

thanks for your messages.

Not feeling as bad today as went out last night and had a good moan over a few pints with my mates.

I cant let his SN destroy our lives just because we want answers.

I dont care if we dont get any answers anymore as long as dylan is happy thats all that matters.

Butty.xxx

Butty - I think that's a good attitude to have, as long as Dylan is happy and making reasonable progress, just let life carry on.