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this is so hard harder than i ever imagined :(

my son charlie is now 11 months old and hes been poorly since birth but still no diagnosis image he had an ng tube on n off from 2 weeks old n wen he was 5 months he had it down continuosly then in april he had a gastrostomy hes still not on solids yet and is only on 16-20 oz of milk a day he has a endless list of problems but his main prob is feeding hes developmentaly delayed too so he cnt do what he should but that doesnt bother me as he will do everything wen he is ready but he doesnt seem to gain weight he was 9lb 9oz wen born and hes now 14lb 8oz hes so tiny image hes had 2 operations since he was born n they are the hardest thing ever i just want everything to be ok x
does any 1 else not have a diagnosis yet?? :cry:


  • firstly let me give you a big chat room hug x x x

    My little boy is 2 and 1/2 and we still don't have a specific diagnosis although his team of specialists are looking into certain muscle problems. Problems were picked up from the minute he was born as he was very floppy with a weak cry and did have some feeding problems although I must say it wasn't too bad as I was able to continue breast feeding.

    since then he has always had trouble putting weight on and is still very thin, he has only just got out of the 2nd centile into the 9th he was 8llb 4 and a half ounces born.

    he has always had delayed milestones and still struggles with food textures. he is on a soft diet and thickened fluids as he has high risk of silent aspiration of thin fluids

    we have loads of other issues too much to go into really but we have so much support we are very lucky. He has physio sessions twice a week and physio comes to the house every month, he has specialist seating at home and nursery and specialist buggy etc we have a really good neurology and genetics team but still don't have a diagnosis, it is quite frustrating but with all the support we already have at the moment this wouldn't change with a diagnosis and only for this fact that I get through to be hones we are very lucky

    is Charlie your first baby? do you have any support from your Paediatrician do they have any idea what the problem is, it is mostly muscular? what operations has he had?

  • hello hun x charlie is my 2nd my older 1 is 11 months older than charlie his main prob is weight/feeding but its becoming clear his muscle tone is extramly low he had pyloric stenosis (all to do with stomach muscles) and has a gastrostomy image which im findin hard to deal with x
    he has a full medical team who are great image
  • Ahh that must be hard, think a couple of my cousins had an op for that but didn't have to have gastrostomy. I don't know how i would have coped withought our local team, we are lucky to have groups to go to so I have other mums and dads to talk to who are going through similar situations. do you have anything like that by you?
  • yeah theres quite a few but i dnt drive so sum r hard to get to image but i now have a new network of friends image who understand wat im goin thru x
  • Yeah that's a problem, one of ours has transport that you pay a few pounds a week for and it picks up and drops off although I drive so haven't needed to use it.

    It is good on here for support, I have a few people I regulary catch up with here and have got lots of support since before I was even pregnant which seems like such a long time ago now
  • Hey I'm sorry I'm g/c here. But just when I was reading your story 30somethin, the symptoms you explained that your little boy had when he was a baby sound a bit similar to a disorder I use to work with called Prader-Willi Syndrome. Now I could be completely wrong as obviously I'm no doctor, but it is a condition which doctors don't often consider until the baby is older, and then the symptoms change etc. I don't want to interfere, but maybe you could have a look at it and see if you feel that it could be a diagnoses for your little boy. D xxx
  • Thanks Dxxx he's been tested for Prader-Willi and he doesn't have that but we do know a little girl who has it and she's the same age as Paul and is so similar with her symptoms so I know what you mean.

    We've been told by our genetics team that there is a risk that it could be something that isn't recognised yet and therefore almost impossible to diagnose definitivley. Medical research is developing so much though that I'm sure somewhere down the line we'll get something set in stone, until then we do get lots of support and I have mums in similar situations where their children have unknown conditions so we are lucky that we are not on our own.

    many thanks for your concern x x x
  • HI, I hope you dont mind me coming onto this thread but I really need some advice.
    Firstly, let me say how wonderful you all sound. Coping with a new born is hard enough!

    My friend just had her 3r baby (a girl) my friend had far too much water right through the pregnancy and was sectioned at 35 weeks. The baby now has Floppy Baby Syndrome. She was only born yesterday so its very early days. So far they have ruled out brain damage and all her major organs are fuctioning well. She has an NG tube but that is all the help she needs at the moment. \she is getting better all the time but still cannot suck or swallow. Any ideas????? They are saying things like muscular dystophia??

    any advice is appreciated

    d xx
  • Hiya dee dee, floppy baby syndrome as a diagnosis is sometimes used (i have found) when the Paediatrician doesn't know what is causing the problem. If they have mentioned Muscular Dystrophy they will test for this (there are about 13 types I think as we've had lots of discussions regarding these too although we are not thought to be in this catergory) the best thing in my opinion is to get a referral as soon as possible to a Neurologist. The Paed will probably do lots of blood tests same as happened with us but the Neuro will see things that you or I would never even notice, and also the Paed's are not specialists in specific conditions etc whereas the Neuro's are its day in day out for them.

    I was asked about a million times if I'd been told that I'd had excess fluid during preg (although I hadn't) apparetnyl this is common for types of congenital myopathy (this just means muscle disorder) We are currently being tested for CMS, congenital myesthenia syndrome. I'm being tested too as I had very similar problems at birth (very floppy, poor suckle and swallow and much more)

    there are so so many conditions that can cause floppiness at birth which makes it very hard to get a specific diagnosis and it can be a very long road. What area is your sister in? We are in Wirral, Merseyside so we have very good childrens hospital and other local services, your sister will need so much support, and although family support is great, other parents in similar situations are invaluable, I don't think I would have coped as well withough the support groups I went to from quite early on.

    Although your sister won't feel like this now, in my opinion it is best that a problem has been picked up early as the sooner she gets support the better she will be as time goes on.

    E-mail me if you like I'd be pleased to try and help in any other way if I can, even if your sister just wants some support from someone who has gone through something similar.
  • Thanks so so much for replying.
    Its not my sister though. She is like one but she is my friend. We live in the Middle East (Bahrain) so things are much more complicated. She has her OH here ad 2 boys but no family to support her. They are all calling her and I have advised that maybe a close sister should come out to her.
    Its very hot here (some days 50) and I leave for 10 weeks (back to UK) on Tuesday as do most of her other close mates. I feel so awful leaving her with these problems but I cannot change my flight as its not a flexible ticket. Also, I have 5 kids of my own that i need to get home out of this heat.

    Back to her baby.

    She has so far had lots of blood sent off to be checked for chromosonal damage. These will be through in a few days and some a few weeks. She had a scan on her brain and that was perfect which is surely good news??? She had all major organs checked and again, that is great.

    She was 5 weeks prem as was my last born and its not unusual for them to be a bit weak. She is getting stronger but is still failing the newborn tests. She does grasp her mums finger but not tight. However, she is getting better by the hour.

    Strange what you say about you as apparantly my friend ( who is one of 9) had 2 siblings born a bit like this and are fine now. She was checked thoroughly once Polyhydramanious was found and the baby passed all her scans for heart, brain etc. Though she passed all checks it was not a complete shock that Lily has a few problems but they did not expect quite so severe.

    Last night my friend was going to hold her for the first time. I told her to insist upon it. Skin to skin is so important. Also, she is not a breastfeeder but she is going to express as Lily has an NG tube in. She is also going to start putting her to the breast as she is suckling a dummy for a short while. She can also swallow, its the suckling that she is finding hard.

    I will in a few days tell mt friend we have had this chat but at the moment she is a bit in her own thoughts so to speak. She does not want to speak to anyone here apart from me and her OH and she does not want to know too much about the future until more tests are back. Not sure if you felt like that> She wants to enjoy her baby and not think too far ahead.

    I think she may return to UK once passports are sorted to get some 2nd opinions etc... healthcare here is private and very expensive. Most insurances prefer to send you home and get medical tests done at BUPA etc..

    I hope you get some answers. I will email you so that you have my email address if my friend wants to chat to you...

    Thanks so much for you advice, it means a lot. I have been like a clucking hen worrying about my friend.

    d xxx

    [Modified by: dee dee on June 25, 2010 07:42 AM]

    [Modified by: dee dee on June 25, 2010 08:59 AM]

  • Ahh I understand how your friend must feel, even now I can't recall who I told and who I didn't, I didn't even want visitors a couple of days after he was born I coulen't deal with it.

    If she was 5 weeks early and has had a tube, this can be a problem for sucking and she's doing the right thig getting her to take a dummy or even the breast so she can develop that suckling reflex it is so important.

    All my little boy's chomosomes are normal, they think there is a gene within one of the chromasomes that may be faulty (we have millions of genes in each chromasome) my little boy's brain, heart and other organs are all normal and healthy too its just his muscles.

    He has it becasue I have it, with some family histroy of this type of thing I personally think (not as a dr obviously) there could be a genetic condition within the family. I know for me growing up things were worse as an infant but as I got older things have just become normal. I still struggle with strength but I've been told with lots of muscle conditions they are non progressive. I've been more affected as a parent only because I HAVE to do much more physical activity just in looking after by boy as I think I must have limited things to keep me on an even keel.

    If she has the option to come to uk for tests or even just NHS funded physio etc it would be invaluable. It is a shame she is so far from her family and friends I hope she does ok.

    x x x
  • Hi

    just to update you.
    Good news!!!!!!!! ALL chromosone and genetic tests came back NORMAL... they are waiting a few metabolic tests but she is getting better by the day. I think it is going to be unexplaine hypotonia. They are delighted so far and fingers crossed she will go from strength to strength...thanks for you help

    d xx
  • thats great news I hope she continues to get better

    x x x
  • thanks for you advice back then..
    Just thought I would update you out of politeness

    Lily is now 5months old. She is feeding really well and is such a beautiful little girl. She smiles, giggles and can play with toys and put her hands in her mouth etc. She still cannot hold up her head but is getting physio once a week following the Bobath programme. There is no reason for her hypotonia. She is been taken to the UK for second opinions next week just to check that they are doing all they can here.
    Thanks again for the advice you calmed me right down.
    d x
  • that sounds great and I've heard of the Bobath programme which I believe is very good.

    I would be vary interested to see what the UK doctors opinions where, especially with the family history of similar problems at birth. We still don't have a specific diagnosis but no one has ever said to us there is no reason for it, just that they may never find out what it is due to the nature of genetics. But anyway its really lovely to hear that she is thriving and that is the main thing, she will get stronger with time I am sure of that.

    x x x
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