Don't even know if I should be posting here.

[misdee]

Friday before 9.10am was normal.

Then we saw the GP about an ongoing issue (baby's face drops on one side at times). First time we had seen the GP as the HV had said not to worry as both sides of the face moves when she smiles. But I was worried so I booked to the see the GP.
Ended up with an urgent appointment at paediatrics at the local hospital.
Baby has facial nerve palsy of unknown cause. They are booking an MRI and neurology. Because she can move her forehead and eyes, it's unlikely to be Bell's palsy. They are looking for an upper motor neurone lesion. (It's amazing how much they put in notes these days to hand to parents).

So yeah, I don't know what's happening with my baby girl. She is 9 months, developing slower than her 6 siblings, but getting there. Been trying to get a SALT appointment sorted as she chokes on food and drink most days, but seems that the local website that's says HV can refer is wrong and I need to go back to the GP.

Just got to keep going until we see neuro I guess. Maybe some answers soon.

We were back at neurology last week. Still nothing concrete. And still querying seizures vs migraines.
We are trying out a specialised wheelchair this week. Hopefully will make life a bit easier and more comfortable for dd6.

Poorly girl this week. Am gutted. She has been doing so well lately.

Sorry to hear that misdee

I’ve just read the full thread. I can’t believe you’ve been posting for well over 2 years and still no diagnosis. I was really hoping for a happy ending

I hope your beautiful girl feels better soon c

I first read your post about 18 months ago when my ds was diagnosed with Bells Palsy.
Dd sounds like she's had a tough time with so many hospital visits and health issues to deal with. Is a hemiplegic migraine like an actual migraine? Stupid question I know. But I get migraines and they are so sore. I hope your dd doesn't have the same pain, how unfair for a small child.
I have nothing useful to add, I'm sorry. I hope there are plenty of good moments alongside the difficult ones.

Sorry for not updating for a while.

Hemiplegic migraines are migraines that cause stroke like symptoms.

Anyway...

She is starting at a specialist nursery next week to go along side her mainstream place. OT, SLT, special no-flicker lighting, sensory rooms, social group work, pecs and visual time tables all on site. She will be doing 1 afternoon this term and moving to 2 mornings next term. I need to get an EHCP done asap to sort the funding.

I'm glad she's starting somewhere specialist.
It's a good idea if your starting EHCP to have a think yourself about some shirt and long term outcomes for her.
Eg - what would you like her to use pecs for? It's such an intense and long term process you would have to focus on what you wanted or she needed to communicate the most first after going through the initial stages of teaching how to use them.

She had settled into the specialist nursery well.
However She is having absence episodes again which they have noticed. At least it's a professional noticing them and helping us with a diary for them.
Still no genetic results.

However she has been granted a blue badge. As she doesn't qualify for mobility DLA I applied on medical grounds. So much more paperwork. But they looked at it and said yes. So am happy with that. Will make things easier. Her wheelchair application is also being processed.

Yesterday we had an appointment at GOSH. Confirmed she has leukodystrophy MLC2B.

Sending hugs to you. I can't imagine how you are feeling now - answers after all this time, but confirmation of something you didn't want to hear.

I hope they can offer you lots of support. Just had a quick google and it looks very rare, but hopefully in this digital age there will be others going through similar experiences you can link up with.
And of course we are always here too.

Misdee the days after diagnosis are the scariest and loneliest. As days go by you realise the label doesn't really change your beautiful Dd.

For now just be kind to yourself and don't look too far ahead.

We are ok. It's non-fatal. She gets to grow up. After the last 2 years of not knowing and worrying about her head, if she would stop progressing, if slowly we would lose her, this is a huge relief.
I've been added to a support group. Now I'm There, it's 6 people. 1 other is in the UK. This is going to be a lonely ride. Buy hopefully so much easier than previously thought.

Dh and myself need to be tested for the faulty gene. If either of us have it, then the other children need to be tested.

Absolutely love her.

She looks adorAble x

What a cutie she is. So glad that you have a diagnosis at least. Not knowing is nearly worse than anything else..
you sound amazing by the way. Honestly think with you on her side . She'll surpass all expectations.

Autism assessment is book for early September as well.

She is so gorgeous! I'm glad you have an answer (and Google said "improving type", is that right? Though I know the crystal ball gazing is always a bit pointless and dangerous).

I hope the autism assessment goes well too. I wasn't expecting it at all but I've felt so much better since DD's autism diagnosis and I think we've been getting on better as a family. It's so much better to have an answer than all this uncertainty, and it's made it easier somehow to just accept that this is our (actually lovely) life and we are all just going to do the best we can.

Hope you are all doing OK in the heat and that the support group is useful despite its wide geography!

Yes improving/stabilising type. So hopefully she won't regress and continue making developmental gains. Everything in its own time.

Rarer than rarer than rare.

Wow, do I read that as actually unique??

I think so. No one has that same mutation.

Genetics called today. They are popping forms in the post so dh and I can get our bloods done and sent off to the right place.

Dd6 recieved an autism diagnosis yesterday

How do you feel about that?
You've had such a lot to deal with these past years and so many answers to get your head around recently.

And how is your gorgeous officially unique little girl doing?

I thought I would find this diagnosis the easiest out of the two. But I'm finding it harder. Mainly because there are things out there to help. I'm signed up for the More than Words course starting next week. People understand autism. Or claim to. It's the easiest one to explain. And possibly the one that's going to help her the most.
Lots of discussions yesterday about her future schooling. Lots of forms to fill in and get my head round.
Mainstream nursery at the big kids school started today . I probably should have delayed her starting by a few days after yesterday. But it is what it is.