My son is 8 years old and has Noonan Syndrome. I have been trying to get a referral for him to see a specialist for 4 or 5 years. He isn’t registering on the normal height chart at the moment, and we just want to see someone. Has NICE approved the growth hormone treatment? This may help us to get a referral, as we have been told because it isn’t NICE approved, we can’t see a paediatric endocrinologist at all.
I don’t think NICE has made a specific recommendation yet. They do have a website which lists the new areas of guidance, so it is possible to watch that and we will put it on the website as soon as we hear as well.
It sounds as though you are being followed up by a paediatrician who is putting the growth measurements on a chart—that is always the first thing to do and helps guide the treatment. It sounds as though your son is at the bottom of the centile chart, and a referral to a paediatric endocrinologist to investigate and exclude other causes of poor growth such as low growth hormone might still be helpful even if growth hormone is not available at present. Are you able to discuss this with your paediatrician?