Oh god hold my hand.

[OpheliasWeepingWillow]

Am in Asia and about to sleep but neurologist says dd who is in hospital (10 months) has delayed brain development. This is in conjunction with failure to thrive and a flatlining curve. They are looking at metabolic and genetic disorders and I am beside myself. Couldn't find Special Needs on my stupid phone.

Spinal tap tomorrow I think.

So scared. She is my world.

Hand holding from me too (sorry it's a bit cold though).
Be strong for your little one.

Never forget, at this age the tests are horrible for you and probably stay with you the rest of your life, but as others have said, they are necessary to get the answers you need. However, your LO will forget about the tests. My dd had many, she really does not remember a thing. When she sees some of the photos when she was in hospital she doesn't even know it is her.

I very much you get some answers soon, the uncertainty is one of the worst bits I think as you are left in limbo.

Good that your DH is flying in so you won't be on your own. Any chance of your DM coming over to support you?

Thinking of you.

How has your day progressed?

Has DH arrived?

I'm glad you are in a nice hospital, being somewhere clean and organised makes you feel so much safer and a little less vulnerable. (Starbucks is always a bonus!).

Thinking of you
x

Thinking of you here too, Ophelia. My ds1 failed to thrive and was eventually diagnosed with a rare growth/metabolic disorder. It is such a worrying, frightening time. (He is now a thriving school boy - but that doesn't help you at the moment.) I would say, never feel worried about being demanding of the doctors. I am generally a people-pleaser but I learned to gently insist, quite a lot, until I got answers or action. Thinking of you and your dd lots today.

Another hand holder here. I certainly hope you get the answers you need and soon. How worrying for you. xxx

tangled how have you managed the disorder?

She just refused a feed as too tired and I feel awful as we need to get two more full feeds in her today. Not sure when to wake her up.

Apparently genetic and metabolic specialist will see us Sunday then we can go away and wait for results

She is being SO perky but I am cutting my fear of flying Xanax in half and taking twice a day to keep on top of THE DOOM.

DH here but he is at the desk working so am still just pacing about with dd prodding her little ribs hoping she will get fatter somehow

Ironically I thought she was advanced for her age developmentally. shows what I know

dikkert my DM is disabled but we fly to Europe next week I hope for Xmas. Fingers crossed.

butterflies the nurses are so so nice. The doctors slightly inscrutable but I don't mind that. I must come across as a gorgon TBH. All Unbrushed hair and demanding answers.

Test results in for allergies - none aside from egg white. No CF, no CPMI, no celiac, normal levels of everything except raised protein.

It's a mystery.

Hand holding from the frozen wastes of Scotland here. I can't imagine what you are going through. ((hugs))

Have been in exactly the same position, it is very hard..DD's tests were eventually clear but it was hard...try not to Google or you will waste energy worrying about things she doesn't have! Hope you get answers soon

It sounds like my ds's disorder is a bit different as one of the hallmarks of it is normal head circumference (so cos they're so tiny, head looks quite big) but some of the things you say about your DD are quite similar. But for ds, he had NG tube feeding from 7 months, then gastrostomy at 16 months. Now at 5, he is 'learning to eat' again, and for the past year and a half, we have been reducing the feeds very very slowly, and encouraging eating. (Ha! I make it sound so easy.) Most children with his condition need growth hormone at some point but DS hasn't needed it yet - the extent of his condition is termed quite mild . The extreme response to illness and food refusal didn't/doesn't feel very mild.

Thing is with DS's condition, it's a very subtle genetic mistake - and they're still working to understand it, so his particular glitch has only just been pinpointed, and he's 5. (Around 50% of children with his condition are only clinically diagnosed) I wonder whether for some other metabolic conditions, the same is true?

Sounds like you're in the right place, and seeing all the right people (geneticist, endocrinologist), so I really hope you get some answers, and that they are reassuring, soon.

"Ironically I thought she was advanced for her age developmentally. shows what I know"

Ophelia- I know that I have no medical training or anything, but she does sound advanced developmentally- what are they basing the developmental delay thing on?

Anyone around who knows more about this?

Certainly knowing a few words like mama and dada at 10 months does seem good to me ?

BTW head circumference measuring is notoriously inaccurate..we were told my DD had microcephaly several times and she actually does not and has quite a big head.

Worried I sounded a bit doom and gloom in my last thread. I should also say my ds is the sparkiest, brightest, little boy. He has been stoic in the face of all his illness and discomfort. He is so funny and lyrical, and I love his take on the world. When I look at him now, my one wish is that I had not spent his early years with that constant gnaw of worry in my gut. (But I do think it was totally natural to worry.)

post not thread

She does sound developmentally, well within the milestones, if not a little advanced!

Testing started with ds when he was 10 months old, so young, but at this age he was unable to sit, roll, hold head up, babble, play with toys - he was assessed as being at the level of 1-3 months old.

Has she gone down the centiles curve? Dd1 started on 50th and by 10 months was on the 2nd centile (she was about 7.2 kg), she is still smallish now (she is nearly 7) and it has emerged that she has reflux and possible food intolerances, but is otherwise fine.

Hope things going ok at hospital.

Checking in as we reach evening here in Asia - hopefully your DH has now arrived, and you've got another feed into that lovely girl of yours.

She does sound advanced developmentally, honestly she does.

I can really see how her size is worrying though.

Can you pay for a private appointment with a paed. while you are in the UK over Christmas?

I'm here too...not because I know a thing about your worries but because I know how hard it is to be in a foreign country with DC....i hope you're getting some sleep and feel ok.

She's had 500ml today and hoping for another feed. It's 30cal an oz formula so e.g 600ml is equivalent to 900ml 'normal' formula. They want to see if makes a difference but she needs to drink it first!

Anyway, we are all napping and hoping for feeds a bit later

Without tears. Including mine...

Oh ophelia's, I am so sorry you are going through this.

I have been through something similar and it is awful. My son was tested for SMA when he was just weeks old and it was the hardest thing I have ever had to go through. He however was oblivious, even to the blood and nerve conduction tests.

In the end he was all clear.... and this was after the paed saying she was almost sure it 'wasn't nothing'. Well, it was nothing. He is now fine.

I hope you have a similar outcome.

I am glad she's drinking - 900 ml a day is not bad going: it's certainly a lot more than my friend's little girl took. When she was at her worst (around 6-18 months) she was down to about 15 oz a day (that's about 450ml) although I think that was fortified too. I know they had this daily target of 20 oz and it was such a struggle for everyone and hardly ever met.

Oh, and my friend's DD is fine now at 2.5: constitutionally very teeny but healthy and meeting all milestones.