White matter abnormality MRI

(6 Posts)
neroni Tue 16-Jul-19 10:45:53

hello, my DD2 who is soon turning 2 has been diagnosed with global developmental delay back in march 2019. Not walking, not lifting herself up from laying down, not talking although babbling a lot.
she had issues with adenoids which we took out in nov 2018 (We have noticed a massive improvements since then, much more alert, started to bottom shuffle, overall she was starting to make a lot of progress).
she is still not walking, but can weight bare whilst holding to something. she can now lift herself up from laying down and is much more mobile. she is under speech therapist and physio which have both noticed progress . (nursery staff have also said that she has come a long way and doing well).
We had an MRI in May which came back as a shock (neurodevelopment ped ordered it because she had ankle clonus on both feet although very mild).
His communication was horrible and we came out of the meeting being certain that our child has a fatal disease as he gave us a 2003 leaflet on Leukodystrophy and told us not to look online.
He sent us to a neurologist which we saw a week after, needless to say that it was the worst week in our life.
The neurologist said that it is white matter abnormality (that may point to a leukodystrophy), and that there is a spectrum of things, and he cannot say for sure that it is a leukodystrophy, and her clinical presentation does not fit what they are seeing on the MRI. He sort of gave us a little bit more hope to cling on whilst waiting for further results.
We have started a whole load of testing Metabolic tests and genetic. We have received some of the metabolic results back which were clear but more need to come.
I console myself in the knowledge that my little one is doing good progress and that this is being noticed not only by me but by all professional involved (physio,SLT, nursery staff).
Deep down I know that she will be fine and have the feeling that she may have some minor learning difficulties and some minor physical issues but the doctors are freaking me out.
Wanted to know if anyone is going or has gone through a similar situation /

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RubberTreePlant Tue 16-Jul-19 18:52:45

I don't have direct experience, but i'll give your post a bump.

The waiting is always scary. Have they run nerve conduction tests?

neroni Wed 17-Jul-19 13:37:02

@RubberTreePlant thank you. I go through ups and downs and this week has been very difficult.
they didn't do a nerve conduction tests ? What would that help with ?

OP’s posts: |
Pantolilies Wed 17-Jul-19 15:54:52

Bump for you.

RubberTreePlant Thu 18-Jul-19 10:23:27

they didn't do a nerve conduction tests ? What would that help with ?

Sorry. I didn't put that very well. I have no idea if they're indicated in this situation, or if 2yo is old enough to have them, but I just thought in your shoes, it's something i'd ask about.

I hope you have answers soon flowers

neroni Fri 19-Jul-19 08:43:26

anyone ?

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