hypotonia in DS - anyone out there with same??? need advice

[mrssouth]

my nearly 1yr old son has central hypotonia, he has a jejunostomy and gastrostomy, feeds over 18hrs a day continuously. We have been in and out of hospital since birth, seeing about 10 different people like physio, salt, neurology, genetics and STILL no diagnosis, treatment or outlook. I just need to know if anyone has gone through this and what does it mean ie. lifetime care??? Help

Not exactly the same but I didn't want you to go unanswered! My dd2 has DS and suffers from hypotonia. She is 20months. We were lucky and didn't have major feeding issues, though it took her a while to get the strength to feed.

Do you have a paed? What do they say? I know hypotonia is characteristic of Down's but not sure what else it could be presumably genetics are helping you with this.

My dd is weak in her trunk, mostly. So for us gross motor skills have been delayed. We have just started to crawl. [proud mummy emoticon]

Hi Mrssouth - I replied to your post on the genetic testing thread! Try not to get too ahead of yourself at the moment, focus on the task in hand! (I know it easy for me to say)

Has the Physio, SLT and OT given you regular exercises to do? Its important that you do these, and when you're feeling ready start to look up other ways of helping your DS. I've learnt so much from mumsnet with exercise ideas that our Physio and OT has never suggested!

A diagnosis will confirm the cause of your child's problems, it may possibly give you an idea of what the future might hold, it might also point you in the right direction for a support group or associated charity. However, for many if us a diagnosis might be a long time coming.

In the meantime, it's so important to focus on the symptoms. What can you do to help the hypotonia? There's lots of exercises that can be incorporated into daily play which will help. What has your Physio suggested. Normally they will choose one or two things to focus on eg - helping him learn to lift his head or push up on his forearms.

The doctors probably won't give you an outlook because without a definite diagnosis it's impossible to tell. Just aim to help him reach each little step at a time. I'll post some links tomorrow either here or on the other thread?!

hi my DS has hypotonia of the trunk and i think his limbs aswell. We've known since very early and see a physio and neurologist and i'm sure we will see the geneticist again too. No diagnosis either. We didn;t really have major feeding issues apart from that he just wouldn't latch. We do lots of exercises and he has come on really well physically but he really just likes to do things in his own time. I find it hard as its just a symptom and most support groups are for people with a diagnosis which i doubt we will ever have! There are some really good facebook groups for support with hypotonia if you do a search also a SWAN group (syndromes without a name).

My daughter (who is 12 now) has never been diagnosed with an actual cause and I think you might find that your son never is either, sometimes they cannot find a cause. Was the pregnancy and birth normal though? has he had an mri scan of the brain?

My dd had hypotonia though (she still has to some degree) and apart from regular physio froma physio and daily from you, that is often the only thing you can do. I know my dd needed specialist footwear aswell in order to be able to become mobile so this might be worth looking into aswell.

Hiya, my 4 year old dd is also primarily hypotonic although with some fluctuating tone in her limbs (mild CP). Her trunk area is most affected and luckily she hasn't had feeding problems although her speech is slightly affected by the low tone. Longer term there may be things you can do with your ds to help such as swimming and riding.

Sorry to hear you've had to spend so much time in hospital and hope that you can find some answers soon.

thanks all for your support. its so hard as we don't know what we're up against. Because he is feeding so much it is difficult to fit in exercise, although I know it has to be done. I have a 6hr window to fit most things in i.e. solids, exercise, fresh air, sleep!! Pregnancy was fine, he is my second so I was not worried when they said he was small towards the end of pregnancy. Birth was fine too. He has had an MRI which came back normal, he has had EEG and EMG, all were ok. Genetecist confirmed he has all his chromosomes as they were looking at Prader Willi sydrome but this has now been ruled out.

So he has had a full chromosomal analysis, the fish test etc? They tend to start with the basic chromosomes and then start testing fragments etcv, then sometimes they move onto muscle analysis and skeletal. I know it's worrying but do try not to get too focused on getting a diagnosis. I know when my daughter was little it used to eat me up inside that I couldn't get a diagnosis and allsorts of stuff used to go through my mind as to how all this would end. But you just need to focus on one day at a time and you do need to enjoy him too. I wish sometimes I could turn back the clock and enjoy my daughter more when she was little, rather than the constant worry I used to have. It will all get better you know mrssouth and as long as you carry on doing what you are doing things will improve.

Hi mrssouth, just wanted to add my support as I have had fantastic support from people on here :)

My daughter who is 4 months does have Prader Willi syndrome, although we were told at first she didn't have it (I can remember the doctor opening her file and saying "it's not Prader Willi") because the initial test didn't show it, but later, more involved tests did. She also has a deletion/duplication on chromosome 2.
She is still quite floppy, can't hold her head up but she is feeding and smiling!

18 hour a day feeding sounds exhausting, that must be very hard. My dd was tube fed (via NGT) for the first few weeks, and that was every 3 hours.

I do hope you can get some answers soon - according to my dd's consultant, it's common for women to want complete answers as to why their child is the way they are, whereas men often aren't so bothered.
That's been true for me, although I know logically it won't change anything.