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Russell Silver syndrome

(12 Posts)
Kanga59 Mon 01-Aug-16 18:01:37

Hi, I'm starting this thread on the back of another (didn't want to derail that one) in which a poster said her son has RSS. I'm hoping you will post here!

My son was born at 35w and is missing the end bit of one of his little fingers. He is very small, 10.5kg at over 2 1/2 years old. He has had an MRi showing his pituitary gland is half normal size.

Anyone else with experience of RSS?

My son has had a genetic test for it that came back negative. But as I understand, there is more in depth genetic testing that can be done and that the consultant decided not to do in my sons case.

If you have a genetic result, what is it please?

BlackSwan Mon 01-Aug-16 20:20:43

Just a suggestion - you might want to look at/post on the Child Growth Foundation page on FB as there are many parents with kids with RSS who might be able to help. My son has a different pituitary issue but I have seen posts about this.

Kanga59 Mon 01-Aug-16 21:20:50

Thank you black swan, I'll check that out

What is your sons pituitary issue if you don't mind me asking (sorry, if you do :-) x

flutterby77 Tue 02-Aug-16 12:27:41

I'm not sure if it was me you are referring to. I posted on the chromosome issue thread. My son is nearly 2 and was diagnosed with russell silver syndrome in April after genetic testing. He has a duplication on chromosome 7 which is the cause of his RSS (mupd7) He is 8.5 kg and around 73cm long. No developmental issues but a lot of issues with eating and he is currently fed via a Ng tube although he can eat orally he doesn't take enough to maintain weight. RSS was first investigated after a serious episode of ketotic hypoglycaemia where he was admitted to hospital for a week and he has always been small and was classed as failure to thrive. The testing took a while but the geneticist said even without the testing he had enough clinical features to make a diagnosis. Only 40% (or 60% I forget which way round it is) of RSS is diagnosed via genetic testing, either chromosome 11 or 7. The rest is done via clinical diagnosis, My son has minor clinical features tbh. He has a prominent forehead, mildly curved little fingers and a slightly triangular face. The main feature is his size, he is pretty tiny. He was iugr and born at 3lb 6oz at 34 weeks. He is a twin so the size difference is marked as his twin sister is almost a head taller than him. He's still in 6-9 months clothes.

I would also second the poster who suggested child growth foundation on Facebook there are a number of other groups on Facebook which have been invaluable to me in learning about Russell Silver. Search Russell Silver or SGA, one will lead you to others. The magic foundation (USA) are fantastic also for resources/research into growth disorders (specifically RSS) and they provide free screening for RSS.

What makes you think it is RSS? Does your son have specific features? Have you considered other growth disorders which could be linked?

flutterby77 Tue 02-Aug-16 12:29:59

This is my little boy...

Kanga59 Tue 02-Aug-16 21:10:08

hi flutterbuy. It was you, thank you for responding.

I have found my letter and it says:
we have had the genetics back for methylation copy number analysis at the ICR1 gene at 11 15.5 chromosomal position wand. This does not support the diagnosis of RSS.

what brought about the ketotic hypo? do you know his blood ketones level from them? my son is on the ketogenic diet for a metabolic disorder. his base blood sugar level is 4. do you know your son's?

my son has multiple issues. They have ruled out RSS on the basis it's a nominal issue.compared to his metabolic disorder. but I can't help wanting a full and correct diagnosis. my son doesn't grow and not interested in eating. He lives on milk mainly.

I suppose if it is RSS then what next? presumably there is no "cure" . are you doing growth hormone therapy? We qualify from age 4 on basis of birth weight/gestation

my son was l so prem and 1.64kg or 3lb 10 oz at 35 weeks

Kanga59 Tue 02-Aug-16 21:25:13

gorgeous boy! pic has just downloaded ;-)

BlackSwan Tue 02-Aug-16 21:31:25

Hi Kanga, I don't mind sharing, our son had a pituitary tumour - he's on GH now (has been for 2 years) he's doing well on it. We seem to have sorted out the tumour - so fingers crossed. He also doesn't produce cortisol so is on steroids around the clock plus thyroxine.
If your son's pituitary is smaller than usual, is he producing other hormones? Do you see an endocrinologist?
Flutterby your little boy is so adorable.

Kanga59 Tue 02-Aug-16 23:01:56

hi Blackswan, thank you, I'm glad the tumour has gone and that your son is doing well on the GH. I'm not sure if we will go for it but I have a year or so to decide.

We have an endocrinologist on our team. They don't seem too interested or concerned so I assume their tests are all ok. .... Having just dug his file out... I can confirm it says that his thyroid function has always been normal, cortisol response excellent, IGF1 was low at <25 (51 to 303 is normal).

The endo consultant I find quite irritating. She sees me as a bit of a PITA because I'm asking for GH therapy and she doesn't see my son as having a growth hormone issue because he doesn't have low blood sugars overnight

flutterby77 Wed 03-Aug-16 12:46:22

The hypo was overnight one night when he was about 15 months, out of the blue. He had stopped breastfeeding and had possibly been taking in less food than usual. He woke cold and clammy and when I got him to hospital his bgl was 1.6 with v high ketones. I don't routinely monitor his bgl any more unless he is ill or his Ng comes out as I can normally ensure he eats enough via the tube. He has had ongoing hypoglycaemia issues on and off though which they thought had a metabolic cause before the RSS diagnosis. We have an application in for growth hormone therapy. We're in Australia although considering a move home to the UK.

It's possible your son could have RSS although his other issues could be clouding the subject and it's worth pursuing as RSS kids have specific problems which you need to be aware of. Drs know very little about RSS, I find I have to be the expert. I would recommend joining magic foundation and asking for a RSS screening. They are excellent and will assess the clinical features/symptoms/history of your son and give you a likelihood of RSS. You can contact them through Facebook or their website I think.

Thank you for lovely comments on my son, he may be tiny but he has a huge personality!

Kanga59 Wed 03-Aug-16 21:07:15

Can you elaborate a bit on what the specific problems are? x

flutterby77 Thu 04-Aug-16 22:54:05

I don't have my guide book with me and am no expert but they need to maintain a low bmi, have oral motor issues, can have developmental delay, at risk of heart disease later in life, complications from hypoglycaemia, shouldn't be fasted for surgery without glucose drip. My son is on the mild end of the RSS spectrum but I know some kids have more severe issues.

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