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.

This is what they think it is. They had to rule out loads of other stuff to be able to do the further testing for this. It's their topmost differential diagnosis.

www.gosh.nhs.uk/medical-information/megalencephalic-leukoencephalopathy-subcortical-cysts-mlc1

missdee
I have been checking your posts on same off since the beginning and didn't want to read and run.

I hope GOSH are able to offer you lots of support and advice. I'm sure there is so much going round your head at the moment - you've been waiting for some answers for so long now.

Please do keep checking in here when you can (if it's helpful) x

Thank you marshmallow.

Dd6 also has an appointment in a fortnight for a protective helmet. I am actually feeling really odd about it. I know dd6 has issues and is delayed but in a crowd of toddlers nothing stands out. A helmet gives a sign that something isn't quite right. And I know it's going to lead to questions from others. I don't know if I'm strong enough to deal with questions right now. I've started posting little bits about leukodystrophy on my fb so school people have an idea of what's up, but I haven't really spoken much about it outside of my friends.

I haven't packed. We go tomorrow evening.

Thinking of you and your lovely DD6 misdee. So tough that you have to go through all this.

It's got to be done. They need a second mri to compare to the 1 done before she was a year old.

All I keep thinking is that she is 2, and that's when things start to show as issues. But she has always had speech and swallow issues. Always clumsy. What regression should I be looking for?

New SALT came today to do a swallow assessment. Had never heard of MLC. This is our lives now, explain a condition we don't know much about to medical professionals.

Thinking of you at GOSH today

I hadn't heard of MLC - and I'm hoping for you that there's no regression to spot.

That was a bit of a nightmare.

We were on the ward at 7.30am as planned. Fasted since the night before (her liquids count as food as thickened) Met the doc, signed the paperwork and then... Nothing.
Basically emergencies came in, so she was bumped down the list. So she ended up first for the afternoon list. Went down at 2pm. It's all been done, MRI, skin/muscle biopsy, lumber puncture and bloods. So now we wait for those results and go from there.

That sounds like a stressful day. Hope that you don't have to wait long for the results

misdee

We haven't got a follow up appointment yet. However we saw one of her neurology consultants on the ward and she reassured me that she would be chasing the results and will write in due course or call us in if needed.
Helmet appointment this week so at least that's finally getting sorted

This has been ordered with all the extra bumpers. Thank goodness for the nhs

www.healthandcare.co.uk/disability-safety-helmets/RSL-C401104B-1.html?gclid=CjwKCAjwxo3OBRBpEiwAS7X62ZmVtUIoyRNBTvuDANrFFNx0FfkEBi-XAzuB2mjOQNXDoRYMuhzM5hoC5-sQAvD_BwE

It's been a long month.

Dd6 has her helmet know and has really taken to it. She has moved from a standard stroller to a maclaren major. Started having strange episodes. Discharged from cardiology!! OT coming to sort house adaptions, some improvements in the myelin sheath. Other parts of her brain still a bit buggered. Something off with amino acids. Still waiting on leukodystrophy results. Chasing up autism referral.

But how adorable is she? She is doing amazingly. Using 2 single syllable words together, signing more, being more socialable and playing more.

She is a real poppet! Glad she has taken to the helmet and that she is making strides with her speech and signing.

for you misdee for all the 'extra' stuff that needs to be sorted for your lovely DD.

Oh after being discharged from metabolics in the summer, it looks like she will be under them again due to the amino acid thing

Finally recieved the report from November and the mri in Sept.

There has been some improved myelin progression. However there are many areas of her brain without myelin. It no longer looks like MLC1. But they don't know what it is.
I have had an emotional week with all the what ifs? The unanswered questions. No one knows what is likely to happen, what her prognosis is. We are on our own looking for answers. It's lonely as hell.

Noth8ng constructive to add but have a big xx

((Hugs)) to you. I'm so sorry you still don't have any answers.

So sorry you still have no answers . Is the hospital able to put you in touch with any other parents going through unknown territory for mutual support?

I'm in touch with swan UK, and people on a leukodystrophy board. But I feel like that we don't belong on the leukodystrophy boards either.

Thank you for updating us. My heart goes out to you. We're here to listen any time.

Missdee I have just read the full thread again (I had posted previously under different name).

You have been through so much but she is such a lovely child and you sound like a wonderful mother.

We have a range of SN issues here over the 4 dc including autism, developmental delay, chronic fatigue syndrome, hyper mobility and like you it's nearly a full time job with all the appointments, exercises etc it's hard to find the time for the fun things.

Like you in the early days I wanted diagnosis and prognosis. Dd1 turns 18 this year if I had listened to all the "she may never be able to" we wouldn't be where we are. On the other side a diagnosis is helpful for access to support etc but nobody else has a Dd or Ds exactly the same as Dd1 or as Ds1. Ds2 still has no diagnosis he nearly meets the criteria for this, that and the other but doesn't quite so we just except him to do his best.

Did you ever get the DLA? I was very reticent about claiming it too but it has made a difference and it's a bit of a cushion that it just allows that we bit of flexibility.

I hope you do get a diagnosis because it will help but there is a period after diagnosis that is very difficult almost like a grieving for the child that you thought you had. Once you get past that it does help.

I don't have anything helpful to say but I'm glad there is some improvement and I hope you continue to get some positive news. Must be so hard dealing with the uncertainty though. I was never a big one for needing to know what the future held until we found ourselves in SN world, now I sometimes feel desperate for a crystal ball. It's hard to learn to live in the now again rather than all the worries for the future.

Your DD is so gorgeous. Hope she continues to have lots of fun with communication and playing - sounds like she is making great progress.

She was finally awarded DLA in Feb last year. And recently renewed at HRC but no mobility. I am sure she qualifies for HRM at age 3 due to falls leading to seizures and coma risk. But I'm not sure I have that fight in me.

Whilst she is making progress I'm happy. But been told to look out for deterioration which worries me. Living for today seems the best option rather than worrying about the future

Oh and her face wonkeyness may be because of hemiplegic migraines. I managed to film some episodes before the last appointment and showed the neurologist. She feels that they are likely hemiplegic migraines and will investigate further