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.

A little update of sorts

So far her eeg and EMG appear normal. The bloods and urine tests that have come back so far are normal. Zinc a little low but not overly so. And something to do with muscles isn't right but again not a great concern. She doesn't have congentital cmv.
Waiting for results of other genetic and metabolic tests. Clinical photos have been done to document her condition.

Her diagnosis so far is macrocephaly with bitemporal subcortical cysts. That's more of a list of symptoms than a diagnosis of a condition. So still we wait and keep an eye on her progress to see if static or progressive condition.

We have a metabolics appointment through for the end of next month.

How are you feeling?

I can imagine it's hard being given a list of 'we've found this" without being told the implications etc.

I feel lost. Because we don't know what we are facing. Even the latest hospital report says we may never know.

I have filled in a form for swan uk. I have contacted kidshub in herts to see if they can offer any help.

We see cdc paediatrician next month. Am hoping she refers dd6 onto the SN HV team. Which would then open up the SN support groups which we currently can't access due to everyone waiting for GOSH to diagnose her.

Today Eve was seen at CDC. The referral for this was done in sept. the paediatrician was very lovely, and said Eve was lovely. However Eve does have a speech delay (never would've guessed😉developmental delays and issues with social interaction. The last concern could be just white coat/hospital issue as obviously she has had some pretty intense tests in hospital settings over the last year. So the SN HV (hooray!!) is coming to the house to check her social interaction in a safe setting.

There are autism concerns, but it's picking apart what is linked to her brain condition, what is speech and not brain related, and what is social communication issues.

Eve also has a heart murmur so is being referred to cardiologist as well.

And is being referred for speech therapy. As it's quite clear that it's needed.

back again in 6 months to check on everything.

So so we finally have a lead professional helping to coordinate all these appointments. Yippee!!

She is being tested for leukodystrophy

It's been a while.

On her birthday we saw genetics. Where we learnt that dd6 has symptoms of leukodystrophy MLC1. We are waiting for results of genetic testing.

She is also going to be assessed for autism. Which is no surprise.

Metabolic clinic again in July, where I want to determine if alexanders and canavans disease have been 100% ruled out.

Are you finding the assessments/tests more joined up now?

How is she in herself? How are you coping with it all?

Not really.

The CDC paed is great at sorting the local referrals. Our local neurology team are now taking a back seat, and will see her in 6 months or I can defer it to 9months if things are ok. Gosh are great so far, but getting everything coordinated can be a faff. She is under 5 teams, plus speech and language, optomomology and waiting for cardiology as well.

Health wise she is doing well. No infections, no illnesses.
Developmentally that gap is widening every week. She is walking, still much like a new walker, but is walking. Speech is still very delayed. Understanding is great. Behaviour can be shocking.

I'm scared for the future. Leukodystrophy is fucking scary. And although mlc1 isn't as scary as krabbes, it would still mean a slow loss of skills, and the girl we know and love slowly losing all that we know.

That is so tough - are you still waiting for confirmation of that diagnosis?

Have you been to any SWAN events? I have found it helpful being with other parents facing uncertain futures.

Last month we were called into neurology clinic. Dd6 consultant told us that the top most differential diagnosis is MLC1 based on clinical evidence. We are now waiting for genetics to confirm. If it's not MLC then they will test for other white matter diseases.

Metabolic/enzyme leukodystrophies have been ruled out. She doesn't have krabbes, Alexander's or Canavans disease.

MLC1 is looking the most likely outcome right now.

Last week dd6 had a cardiology appointment to check out a murmur heard in March. I was expecting her to be discharged with an innocent murmur.

In typical dd6 style she has been referred on to the Brompton and Harefield trust to check out a possible defects involving the left and right atrium and the lung wings.

She shows no signs of heart issues so this has completely thrown me. Plus being referred to Harefield gives me the shakes. Spent so much time there with dh waiting for his transplant. So am hoping the clinic is at Brompton so I don't have to go to Harefield.

Then she got a chest infection. GP issued her with antibiotics because of her heart condition as a precaution.

Misdee, Peter wandered into my head as August is I think the anniversary of Pink Peter and then I found this thread.

Poor Eve and poor everyone. I'm so sorry to discover that your darling baby has this condition. Much love to you all and un mumsnetty hugs from an Oldie. No kisses though. Eurgh.

She is amazing though. Doing really well despite sounding like she has been on the cigarettes. Says a few words now, signs a bit. And is very funny.
She is doing far better than her MRI suggests.

Yes donkey. Anniversary in just over a fortnight. 10 years. He is doing well.

Oh what a pair of cuties!

Fab that she's doing so well, that's great to hear.

How are YOU? A lot on your plate, huh.

10 years though! My God. We all sat up pressing Refresh furiously. What a night that was.

Today I'm drowning in thoughts.

But this weekend I am camping with the younger children and some awesome friends.
Dh and dd1 are both working at the weekend and dd3 is at guide camp. Dd2 may join me but that's a wait and see thing due to her autism. It's going to be relaxing. The kids run wild and I can relax. .

I'm giving the weekend plans a thumbs up. Sounds like a heap of fun and relaxing too.

Harefield appointment is through for October. So I'm going with the 'they don't need to see her immediately so it can't be that serious" approach.

Speech and signing have really picked up this week. She is really confident and climbing everything in sight.

They are gorgeous Misdee! Hope your weekend was as fun as it sounded, and fingers crossed you are right about the cardiology appointment (sorry it turned out to be Harefield!)

Weekend was lovely. So relaxed and was good to be with great friends for a whole weekend.

Since we have got home dd6 has not been happy. She is screaming again and generally not herself. Also running a low temperature and stiff legs again. Face wonkyness appeared again briefly. Today is the first time in a week she hasn't needed painkillers.

Back in gosh on the 12th/13th for tests under GA. Am bricking it.

Oh Misdee, you've all been through so much

I hope you get some definitive answers soon for your scrumptious little DD