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Russell Silver Syndrome????

(11 Posts)
Hazey39 Wed 23-Feb-11 17:24:04

Has anybody else had a baby who has been tested for this syndrome. Our baby was IUGR (2lb 7 at birth) and has renal problems. Weight gain has been slow to say the least - she is only 12lb at one year. We have been agressive feeding with high cal milk and tube feeding overnight to try to pile on the pounds. there has been a bit of an improvement but she is still pretty much following her own little curve. They thought it was a kidney related issue now they are sending us off to the geneticists to check for Russell Silver Syndrome. Anybody been through this?

oddgirl Thu 24-Feb-11 12:23:19

Indirect experience of Russell Silver-friend of mine has DD aged now around 11 years-diagnosed at GOS when a baby. her only real problem is a growth one-she will probably only be around 4ft 5. Otherwise she is a delightful bright thoroughly lovely young lady. She does have very elfin features which are part of RS syndrome but she just looks really pretty to me-not at all odd. She had no renal problems with it although I know its part of the syndrome.
Not much help-sorry but hope you get more info soon

Hazey39 Thu 24-Feb-11 14:03:18

oddgirl - can I ask if your friends little girl had growth hormone treatment? I think the kidney thing is the worst possibility with RSS and we have totally got our heads around that now anyway, and RSS or not it is clear she is gonna be a shortie. I am pretty curious to find out if it is RSS or not but fairly relaxed about it. Its just a label for the issues we already know she has from what I can work out. She is on target developmentally and is utterly adorable.

oddgirl Thu 24-Feb-11 17:17:54

No-her mum decided not to-the problem was that as soon as she hit puberty she would stop growing so they were considering whethet she should have some medication to delay puberty and I think they may go down that route instead.
HTH

Sleepwhenidie Thu 10-Mar-11 07:14:28

Hazey I just saw your post and by coincidence we are taking ds2 to GOSH this morning for an appointment with an endocrinologist, he was IUGR and at 14m is still following a growth curve below the 0.4th centile. Russell Silver syndrome is a possibility but tbh I don't think he has any obvious markers for it. There is a poster on here called uptomyeyes and she has a teenage son with Russell silver, she was very helpful to me with pm's about the condition when I was panicking before Xmas about it. If you do get a diagnosis then you may want to pm her. There is also a website/support group here

Let us know how you get on smile

Sleepwhenidie Thu 10-Mar-11 07:16:45

Oh-and uptomyeyes's son had growth hormone treatment which had some pretty nasty side effects, so definitely have a chat before you go down that route, with or without rs being diagnosed.

Hazey39 Thu 10-Mar-11 17:49:26

Hi there Sleepwhenidie - how did you get on?
How big is your little boy at 14 months?

We have had no word about an appointment yet. Dont think there is too much urgency. Neave is pretty much treated in the same way as a rss child would be at at this stage in terms of an agressive feeding regimen. Been on high energy milk for ever, now that we are on a two week trial without NG tube she also has duocal powder added to that. If her renal team are not satisfied with her weight gain then she will get her gastrostomy. I think that even if she doesnt have rss, growth hormone is somethig that has been mentioned by both the renal guys and also her paed.

Sleepwhenidie Thu 10-Mar-11 19:19:41

Your poor dd - and poor you! Sounds horrendous.

Our DS is 6.8kg so still following his line below the 0.4th centile. He's also short for his age so not skinny though and has no other health problems so far. We never had to give him high cal formula (bf for just over a year, a killer as he woke at 1am, 3am and 5am every night until a few weeks ago shock). He is such a picky eater it drives me mad. I had that awareness of my mood being dictated by how much your baby consumes with DS1 and DD but with DS2, because of his size it is 10x as bad! We now rely on getting a poached egg mashed with butter into him every day (the only way he will eat egg) - he refuses bread, cereal, all fruit, avocadoes...but likes chips, baked beans, mash, pasta and pizza and will tolerate broccoli and peas. He is slowly getting better with food and drinks lots of milk.

Endocrinologist said pretty much what we expected - there are no obvious markers for RS but she will see him again in 6m to see how he is doing and will refer us to a geneticist to see if they want to test for anything. If he is still not catching up in his 2nd year then growth hormones would be a possibility. I don't think they would give gh to any baby younger than this, so you are right, there is no reason to rush your appointment. Also, putting a label on a condition really won't make much difference, DS probably doesn't have RS but may well still need GH.

Keep me posted as to how you get on. Good luck, it is so stressful I know...there are much much worse health problems for children to have though, which is what I try and remind myself.

Hazey39 Thu 10-Mar-11 19:50:43

Gosh you are right about that. Neave might be ickle but she is developing beautifully and is such a lot of fun just now. Her Kidneys are a forever issue as she will need a transplant, but we are lucky as her bloods are great and we dont think anything will go wrong there until after puberty. She is just a normal happy little pint sized girl. I think we will get the same conclusion as you when we get our appointment. Food has always been a battle for us but because of the kidneys the renal team have been on it as a bit of a mission from day one. I sometimes wonder what it is like to have a baby who likes to eat!

Sleepwhenidie Thu 10-Mar-11 20:01:20

I can tell you it is great - DD was always a good eater and even though at 2 she can be fickle and try out "no" quite a lot I don't tend to worry as I know she will never starve! Actually she has taught me how true it is that when it comes to food, kids are really best left to get on with it as much as possible, rather than hovering and nagging/bribing/cajoling/tricking them into eating a meal. Despite knowing this though, I still do it!

Little DS2 definitely prefers to feed himself, very independent, certainly no worries about development, he is such a happy, loving little character - so adorable. I worry that it will be tough for him being so cute and tiny later on though, particularly with him being a boy, I think maybe its not quite so hard for a girl to be petite?

ldmonkey Thu 16-Jun-11 14:02:47

Hi, I know this is quite an old post, I found it while searching. i have a 15 month old daughter who was diagnosed with Russell Silver Syndrome when 8 months through the blood tests you mentioned. I'd be happy to answer any questions you may have if this is of any help
xxxx

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