A thread for Beatrice: Because a life filled with love is a life worth living.

[cupofteaplease]

We are back from the hospital, Beatrice has been fed and dh has gone to work. So I have time to sit down and start the first post about the journey ahead, which I hope will be a long and happy one.

Beatrice was born at 36 weeks weighing 3lb 14oz. After an initial diagnosis of Edward's Syndrome was proved to be incorrect, an MRI and genetics tests were carried out and today we have some initial answers.

Beatrice's brain is very small and underdeveloped. The consultant described it as 'simple', because it does not have all of the detail expected in a typical brain. She explained that we should expect Beatrice to be severly disabled. She is also very small and delicate, and at risk of catching infections. They anticipate that she may suffer from fits. They have told us to watch out for her breathing during feeding, as her muscles are weak. They also commented on her shallow breathing pattern. They believe the problem was caused by a gene that both dh and I must carry, but they haven't got the answers yet and admit that they may never know. They have ultimately described her condition as life-limiting.

However, we have left the consultation feeling at peace. We don't know what the future holds, but realistically, neither do the doctors. We have great faith in Beatrice, she amazes us every day, and she is surrounded by so much love from us and her wider family.

I would like to use this thread as a space to jot down how she is doing, and how we as a family are coping with life. If anyone wants to check in and follow her progress, please do. We couldn't have got through the past 2 weeks without MN.

DS1 has had a PEG since three, this and treatment for gastric reflux (Zoton) has helped him. I did not like the idea of it at first, I was reluctant for it to be done but it has helped him put on weight and his dad and I did get to grips with it quickly. Cupoftea, it is another thing for you to get your head around, you may feel like you are on a rollercoaster but your strength so far has been really inspirational.

Thank you for the anecdotes, I'm glad lots of children are being helped by PEG feeding. I would be interested in seeing pictures, if your dc agree! I am certainly not against the idea, just worried about the insertion. However, the nurse this afternoon confirmed that at the moment, no anaesthetist would agree to the surgery due to Beatrice's compromised breathing pattern. She said a PEG wouldn't be discussed for another 6 months at least anyway.

As for the sickness, she wasn't concerned as Beatrice is still having regular wet and dirty nappies. The great news is, despite staying on 50mls for a fortnight, Beatrice has gained a pound and now weighs 6lb 8oz. So her weight is on the 2nd centile and her head circumference is between the 0.4th and 2nd centiles- still steady progress.

However. When I was undressing Beatrice to be weighed, the CCN, HV and myself all noticed Beatrice's right arm didn't look right. It looked almost as if her elbow had moved to the front of her arm, and the whole arm was swollen. She has always had a stiff right arm which makes her yelp in pain when I dress her, but it has never been swollen. So the nurse rang GP and got a referral for an Xray, and it was off to the hospital, again! The Xray showed that there is a bigger than usual gap between 2 of the bones in her arm, but it wasn't described as an acute problem so it can wait until we see the orthopaedic consultant next Friday to discuss her clenched hands and club foot.

I feel happier after the weight gain, and after moving the tube further into the tummy, but it really is one thing after another!

has the physio given you work to do for her hands?

dd2 had clenched hands (thumb in palm) which she held under her chin in a boxer pose (fairly typical spastic presentation), but we basically had to stimulate the backs of her hands all the time (about two years lol) and spend a lot of time 'unbending'. she's low toned now (go figure). so maybe we overdid it...

i could also never work out quite how she was putting on weight when she couldn't feed, but somehow she managed it. clearly they thrive on parental angst.

hope the ortho appt goes well (how are her hips btw? that was the bit dd2 hated the most) and you get a sensible review over her arm, poor bean. (that said, dd2 had a broken clavicle that wasn't dx for ages - there was just so much else going on that no-one noticed).

it will calm down again, honestly. but the earlier the intervention, usually the better the outcome.

remember to take some time for yourself. hand her over and go and have a hot bath and twenty minutes with your eyes closed x

A whole pound!!! Brilliant . Well done Beatrice .

Great weight gain!

Cor- she's turning into a right little porker

It does seem to be one thing after another doesn't it :( but hey, she's doing well and is a little fighter!!

Have you got a carpark pass at the hospital?? You must be sick of the sight of the place.

How is your Mum now?

So glad to hear that Beatrice is gaining well. Sending the whole Teaset all my best wishes. Thinking of you .

Great on the weight gain Cup. Does the arm problem explain her little clenched fist then I wonder and whether this will make it easy for them to help Bea open her hand. Good luck with the appointment.

What a roller coaster you are on, cup, and well done Bea for the weight gain. Even with the feeding challenges she is obviously getting a good amount.
All power to the Teaset.

cupoftea - well done to Bea on the weight gain What feed is she on? Can they increase the calories without increasing the volume? dd had calogen and maxijul added to her feed to do this, some years ago though, before the advent of the ready-mixed extra cal formulas.

Wow great weight gain. Just a thought, could the reflux be adding to her breathing problems, i know when ds2 was tiny (prem) he had reflux but it would all go in to his lungs adding to his breathing problems.
It was only as he gradually grew a little & was co-ordinating his breathing that he would actually be sick. This was all while tube fed & he had to ahve thickened feeds, little & more often to help with the sickness.

Good to read your updates.

WOW, she really is worth her weight in gold!

Go Beatrice and go Cup.

I was also going to mention maxijule and there's another starts with a D as well that are calorie etc boosters.

Hi all, Beatrice is 7 weeks old today

We ended up back in hospital yesterday as she was sick twice and didn't seem herself, so they said to take her in, but her tube was in the right place and all her obs were fine, so we brought her home and were advised to keep her feed at 50mls. I've spoken to the dietician today and she said we'll keep her at 50mls until her weight gain slows down, then we'll try and increase the volume again and if that doesn't work then they can add a booster powder to the milk as a last resort- I assume this is similar to those mentioned by saggar and youarekidding. But luckily the Infatrini is calorie-packed anyway.

We received a letter from the geneticist this morning. They have found an alteration in the muscle receptors (or something...) and they want dh and I to have blood tests to confirm we passed it on, and it's not a sign of muscle disease, but the letter stated this is hardly relevant now given her brain problems. I am a little anxious to know which of us passed it on, but I guess if it can help in anyway it's something that has to be done.

madwoman We are manipulating the backs of her hands and this has helped greatly in allowing her to move her fingers, but the middle finger on each hand is firmly clenched to the palm and has a kink in it. Her thumbs also bend in the wrong direction, almost like they are a 6th finger instead of a thumb. There is a problem with her hip adducters(?? I can't remember the term), but I also had clicky hips as a baby and considering her club foot, she didn't stand a chance of avoiding hip problems even if she had been NT! (That's the first time I've used the acronym NT, but I've seen it on MN before, have I used it correctly? Does it mean a 'normal' child without SN?? Apologies if I have misused it, no offence intended to anyone.)

ChippingIn You have to pay for the first 3 hours of parking (£2.40), then you can claim a 24hour pass from the ward. But yes, I am a little familiar with the hospital now! The nurse yesterday remembered Beatrice and asked after her sisters and asked where her lovely poncho was?! (At home, covered in yet more vomit!) But I thought it was sweet that she remembered little Bea so well. Mum is better, but still full of cold. She had to drive up and sit with the girls yesterday which was lovely of her as she lives an hour away. She stayed the night which was fab as we didn't get back from the hospital until 10.30pm. Thanks for asking.

anonandlikeit Thanks for the suggestions and sharing your experience, but unfortunately Bea's breathing problems are due to her brain not telling her how to do it properly. They listened to her chest yesterday and luckily it was clear, so she hadn't aspirated any vomit which is reassuring.

Thanks for posting, hope all of your dc are happy and well too

It's hardly relevant now given her brain problems

For the love of god, where do they get these people from?? Even if that's what they think (wankers) they don't need to bloody say it in a letter to the parents. Bastards, the lot of them.

I suppose - at least it lets you know which departments need a fire kept under them to make sure they are doing all they can for Bea and not letting things go because of her brain problems.

Yes - NT means neuro typical or normal, without SN.

Bea is so beautiful and with two beautiful big sisters and a Mum that looks like the eldest sister - you're all a bit unforgettable!

Your Mum sounds lovely, I bet she loves staying over with you all. I hope she's feeling better soon.

That was a late one back from the hospital - but better late than having to say in I guess.

7 weeks - 8 weeks next Friday ...must be time for a bit of cake and a wee party!!

Happy 7 week birthday Beatrice .

of course it's relevant. crazy dude. . they are all pieces of the puzzle.

have a quiet weekend x

Nice to know the health services are handling everything with tact and sensitivity, not!

Happy 7 weeks birthday, Beatrice!

Super 7 Beatrice . XX

Hey lucky 7! happy birthday x

Happy 7 weeks Bea. Great news about the weight gain.

Happy 7 weeks old Beatrice :)

Again, cup you are an absolutely amazing mum, think you deserve a little 'birthday' present too!

Have a lovely day x

Hello cup, this lurker is still thinking of you and Bea. And of all the other parents whose stories I don't know but who are coping with a lot more than some of us have to. The kindness on this thread is lovely and humbling. I'm so happy that Beatrice is gaining weight and send gentle hugs to you and her and all of your family.

A bit late but happy 7 weeks old Beatrice, am so thrilled that she's progressing and improving after such a rocky start.

Glad she's doing ok and wow 7 weeks.
Yes you used NT properly

Wondering about the weight gain, my friends little girl has major eye issues and is tiny and no one can say why but we are all very worried here too.