please, can anyone help![sad]

[kail]

My daughter is now 17 weeks and only weighs 10lb 14 oz eventhough her birth weight was 9lb 4oz! I started off breast feeding for 6 weeks but there was no weight gain so i swithched to bottle feeding, things just got worse we found out at her 8 weeks check that she was very floppy for her age and her weight gain was extremely poor. (maybe due to her being sick alot?) She never really took more than 2ozs of feed at a time. She was admitted to hospital in January and after spending a week there with hardly no weight gain. She now has a nasal gastric tube in and is fed high protein milk with thick n easy in it and she is on anti sickness and anti acid drugs.(she can no longer feed from a bottle).She has has all sorts of test including MRI scans, ultrasounds of brain, digestive system plus many more test all results have been negative!!
I am in such a state and nobody can seem to offer me any help or support. Is there anyone out there was has been through anything like this? I just need to know that i am not the only one!!
Thanks Kail

Just thought, I'm not sure if it is strictly genetic, rather it can run in families. I don't think it always does as it's a chromosomal abnormality.

Have another hug!

kail - have a 'heart' baby. My dd1 ( now 2 1/2) was born with a heart defect but in a way we were lucky as they picked up her heart defect in utero and so we were prepared - as much as any one can be. Dd1 has what is called a complete Atrial Ventricular Septal Defect - basically - holes in her heart.

She was tube fed until her surgery - and I can appreciate the annoyance of her pulling it out - our dd used to do that too. Poor dh had to put them back in - or I was lucky enough for her to do it just as the community paed. nurse was due.

I had a fetal cardiac scan at 24 weeks pregnant and then one a few weeks later. Dd1 then had a cardiac scan at two weeks old. They did both a ecg and a cardiac scan which is kind of like a high tech ultra sound - they can colour parts of the heart and the blood to check how it flows etc.

We made contact with the children's heart foundation ( from memory) they can supply you with information and other people to talk with.

Our dd1 was also born with Downs syndrome so we were also able to get support and information about heart defects and surgery etc from the Downs syndrome heart foundation.

Once she had the surgery - her colour improved, she put on weight more readily and had the energy to take bottles - which she did with relish!! To look at her now - except for a zipper ( scar) you would not even know she has had the surgery or a heart defect.

If there is anything else you would like to know - feel free to contact me via contact a talker and I will try to answer any questions I can.

noonan syndrome can be familial in about 50% of cases, ie: if I had it, I would have 50% chance of having a child with it
BUT it also occurs with a random mutation to the trisomy gene, you cannot yet test this, but you can test for the pptn gene which often detects the familial strain
DD has it mildly and has no serious issues arising
you can all of the symptoms or very few, or many mildly or severely
dd has little things, raised fingertip and toe pads, deep grooves in her hands and feet (heartlines etc) fissures they call them.
also heavy eyelids, which have improved tons with age and strength
All people with Noonans have a heart defect, most have pulmonary valve stenosis, some have the ASD, VSD type thing and a few have HCM
It is much "better" for girls as being petite isn't such a big deal for girls.
It generally is easier to detect the facial characteristics when a baby gets a little older
Muscle tone was not evident as an issue when dd was 4 mths as she could hold her head up, but it was eveident at 8 mths when she crawled and could only commando crawl, also sitting on her own was impossible
There is a very good supplement you can go on after 1yr called pediasure, it really helps with weight and nothing else ever did
Seriously I'm going on now
the support group is here
TNSSG
it is US based but is a superb site for information and even if your dd does not have NS, it is useful for the feeding and reflux issues you are dealing with as many NS babies have had such problems
Take care, thinking of you, it is such a hard time and diagnosis makes it easier, as you can at lesat target something in particular
Happy to email you off mumsnet if you would like a photo of my dd at the same age to compare for peace of mind maybe?
xx Piff

Kail - dd's heart problem was discovered at 14 weeks. We had been in and out of hospital for FTT, lots of tests etc,except for an ECG and xray. Luckily?!? she caught bronchiolitis and had a chest x-ray, after which all hell broke loose and she was in sugery by the same evening. Her heart defect (ALCAPA) is one of the few that can cause a baby to have a heart attack and sudden collapse so she was very lucky. This doesn't happen with a PDA, so don't worry.

Had another thought about the feeding and helping her swallowing reflex. You presumably have some syringes, have you tried just giving say 5ml orally from the syringe? Just to keep her used to having something by mouth. Tube fed babies sometimes 'forget' the connection between sucking/swallowing and having a full stomach......the full feeling just 'appears' after you've tube fed IYSWIM.....try giving a little by mouth at the same time as down the tube (obviously you need another pair of hands!) so she connects full tummy with something in the mouth.

You've got alot on your plate at the moment(I have two ds's who were 5 and 2 at the time) Hope you've got some support. Keep in touch.

To Piffle,

Thanks for that site ,i've taken alook its very good. The genticist conselling nurse is coming tomorrow I am really nervous, i don't know why she won't be able to give a diagnosis! I think she just runs through family trees etc I am going to mention about Noonan syndrome and see what she thinks.
Feeling really down today only got 4 hours sleep last night, she is trying to get the tube out all the time now, also had to take my dd1 and ds swimming i am trying hard not to leave them out, as my life seems to be overrun with dd2!
I just would like to get somesort of answer. They are trying her on a soya based milk to see if she can keep it down(they think she may have milk allergy).I think ther just clutching at straws.

gotta go she's up!
Kail

Potty1
Just put dd2 down again shes really grumpy tonight
Feeling really down today only got 4 hours sleep last night, she is trying to get the tube out all the time now, also had to take my dd1 and ds swimming i am trying hard not to leave them out, as my life seems to be overrun with dd2!
My dd2 has just been put on soya based milk to see if she keeps it down, they think she might be milk intollerant! Yes, i have tried syringing feeding she usually spits it out!but she did take 25mls by bottle today.
The geneticist nurse is coming tomo i am really nervous i think she just runs through family trees etc
I just would like to get somesort of answer, i think i'm going crazy!

Kail

Kail, sorry, you are having such a really difficult time. But I think it is magnificent that you are managing to take your other children swimming etc, and clearly being a wonderful Mum.

Sorry about the lack of sleep, but go to bed now and try and get rest while you can.

Good luck with the genetic nurse - but don't suppose she will be able to give you any immediate on the spot answers - but it will be one step further forward.

Kail - congrats on the 25mls.......small steps and all that!

It's damn hard work, especially when you have other kids, trying to meet everyones needs is a bit of a nightmare. I've had an NG myself and to be honest the tube itself feels OK, once its in, but the tape and the bit around the nostril can get a bit itchy so I'm not suprised that the babies want to fiddle with them.

Hope you can get some sleep tonight ( do you prop your dd's mattress up - it can help both with the sickness and breathing) and good luck tomorrow.

Kail you are doing an astonishing job as a mum at what must be a very difficult time for you all.
I hope you get some guidance from the genetic nurse today, our nurse was helpful and took details for the genetic consultant to examine before seeing us.
It may not be a diagnosis but it will be support and an avenue to follow which we found really helpful as the months went on, our service also offered a phone in any qyestion service too
Whereabouts roughly are you based Kail?
Congrats about the little feed, step by step it is, such little rewards, but it does get better.
Take care have been hoping all is ok for you
xx Piff

What a fab mum you are!

Did you get on ok with the genetic nurse Kail?
how is your littlest dd today?

To Potty1

It looks like we have had a break through with her milk! She has been on Nutramigen since sat and has only been sick once, she was seen by her ped on wed and she was 10lb 14 last week now she is 11lb 7, she has also improved with her head control and is less floppy! He was very happy with her progress.
I seem abit more postive now.
She still does not want to fed from bottle but we have started to wean and she has aboout 1-2 teaspoons 3 times a day(ped advised us too)
Yes, her face is very itchy at the moment and made worse by her eczema which is very red and sore.
We also saw the genetic nurse this week who just ran through family trees etc, we will see genetic consultant in about 1-2 months time. she wasn't able to say much but told me that it will but it will be a process of elimination!
I'll keep in touch

Hello Piffle,

Sorry it's taken soo long to reply been off line a few days! Al went well when we saw the genetic nurse we ran through family trees etc and what to expect when we meet the consultant, she said there will be no quick answer it will be aprocess of elimintation, we hopefully will get our appt through in 1-2 months time.
However in the meantime my dd has had a really good weight gain she was 10lb14 now is 11lb7, she was put on Nutramigen on sat and has only been sick once! We saw ped also who said he has seen good progress with dd including her ability to hold her head up! i am so happy that he has seen the imrovement.
Yes a photo of your dd would be lovely!
We are based in St Annes, lancashire, you?
My dd is on good spirits today and is always very happy and gabbles all the time(abit like her mum!)
I'm feeling more positive [big grin]as my dd seems to have come on in the last couple of weeks i'm still finding it hard with the tube(watcing her all the time), and her face is so sore due to the eczema. Was your dd tube fed?
Speak soon

Kail, was the Genetic Nurse from St Mary's in Manchester? We've never seen anyone from the Genetics Service there before but have got an appointment with them on April 22nd. I'm in Accrington, Lancashire by the way.

Kail - Sorry not been around, dd download a file that gave us some horrible worm thing. It's taken me three days to banish it.

Good news about the sickness/feeding, hopefully you've found something that suits. We used to add loads of stuff to dd's food once she was on solids to boost the calories, double cream, butter, yuk it makes me gag just thinking of it. Hopefully if she continues to gain, you can get rid of the tube sooner rather than later.

Nice to hear you sonding so positive.

hi kail glad to hear the weight is going on and you're sounding a lot happier
did you get my photos?
We never had Ems tube fed as she was a good breastfeeder and had no real reflux issues. Her weight gain was a cause of constant stress and worry, now at 28 mths she is putting it on like it's never been an issue
Very strange.
I hope you get a diagnosis or possibility diagnosed soon though, the wait is interminable I know
I'm in Sleaford in Lincs, was just wondering what genetics service you'll be under. I'm (well Ems is) under Nottingham Regional who have been FABULOUS!
If you can bear it try BDF newlife as well, they were the Brith Defects Foundation, I know the name is frightening I suspect that's why they changed it, but they have nurse counsellors on the phone, they do all kinds of genetic conditions and have been a lifeline for me, a mine of information and aid you with referrals as they fund many doctor and specialists and research....
Phew nuff said
Take care
xx

To MandM

The genetic nurse we saw is based at Blackpool, she came to or house to do a prelim, but i think she is from manchester St Mary's.
We will be seeing the genetic specialist in 1-2 months, the wait is killing me but even when we do get seen it could be ages before we get a diagnosis if at all! Is your dd,ds son having same sort of probs as my dd.
Kail

Piffle,

Yes, i did get the photo's she is beautiful, is she a handful like most girls! I have tried to send a photo of my dd but it would not attach so you might have got an email from me with nothing on it, i will try again.
I think the genetics team are based at St Mary's , Manchester i will see them in blackpool as they have a clinic their.
Had to take dd to hosp yesterday as i could not get her tube to stay in as her skin is so sore they didn't really have any answers as to what to do other than trying to attach the tube to a headband, which i did but it was only there 5 mins and she moved so much that it fell off. Im happy she is so active now but it's a nightmare to keep this tube in , i changed it 4 times yesterday!
Anyway speak soon
kail

Hi Kail

No, we already have the dx for our dd, she has Williams Syndrome. We're going to St Mary's for two reasons really: 1)We have never been offered any kind of genetic counselling or even a detailed explanation of dds condition, we've had to do all of our own research 2)We're getting towards the stage where we're thinking about having another baby and have quite a lot of questions that we want to ask. I recently got a new GP who found it disgusting that this service had never been offered to us and referred us straight away (the old GP was USELESS).
Anyway, please keep us posted re your dds progress and I really hope that she carries on doing well.

mandm, similar to us re the counselling, it seems that we had to really ask for it and now have got a risk of 0-5% of it happening again, most likely to be 0% so we are trying again now (well not as I type of course )
I can see how the wait must be so infuriating Kail, we were so lucky that our paed spotted enough "symptoms" to second guess a diagnosis and he was right, so we got a name early on to go and search the internet for
By the time the formal dx came, we knew more than the geneticist. And like mandm we had to do an awful lot of research on our own, we had to request the nutritional supplement which was recommended by the US support group etc
It is a desperate time...
Are there any little things you notice about your dd's appearance that you could share to see if it rings any bells with anyone here?
Hardly science though I guess, so maybe not the brightest idea I've ever had.
Hope you're doing ok, saw the pic she is a little darling heart
xx

hi everyone. this is the first time i have ever posted a message on any subject and i feel a bit uncertain cos i'm on mumsnet and i am a dad....
i know that this 'thread' is a year old but i have just been reading all of your comments about Noonans and wanted to share my thoughts, feelings, etc with you.
my son was born 3 weeks prem and came in at 10 1/2 lbs. big lad. after going through all that feeding and other issues you have all mention he was admitted to hospital due to a chest infection and they discovered his heart murmour. within 10 secs of the heart specialist seeing him for the first time we had our NS diagnosis. the syndrome word was so shocking at first but due to the consultants early diagnosis we were able to get used to it straight away.
he is now 4, has a statement and we are battling to get the right school to suit him.
if you are in a similar position, reading this and are worried don't be.
he is the most gorgeous thing in the world. i cant walk rould a supermarket without a dozen people talking about his lovely curly hair etc..
not sure if any one will read this or what happens next but i wish you all the best and would love to help in any way i can.

hi harry'sdad- welcome :)

hang around the SN section, we're quite a little community.

I have 3 sons, my eldest (now 6, almost 7) is severely autistic.

How's statementing going?

thanks for the welcolme getbakainyourjimjams ,top name,
the statement process has been a challenge from start to finish, that was despite great help from the pre-school advisor. he is currently in the nursery attached to the school but they have not made his move to the main school welcome....
we went to see a special needs school that was so good (9 kids per class with 3 teachers) but harry is border line on getting in. its one of those dilemas about being top of a special neeeds class or lagging behind mainstream, who knows. is your son in mainstream?

i will keep an eye on this site (as an honourary mum)
ps what is a dd

just re-read some of the postings about feeding and NG tubes.
we took the desicion to have a gastronomy (sic)tube inserted at 6 months old.
the anguish about having a general anethestic with his heart condition was hard and that night i spent with him in the hospital was one of the worst but if anyone reading this now and is offered that choice go for it as we think it was the best thing to have ever done. no itcy face or rushing the the hospital every time he pulled out his NG. Also, and not just for us, there was none of the awkwardness of when people would look at your kid and then get flustered and not know what to say.