tots100

TOTS 100 - UK Parent Blogs

Wednesday 30 November 2011

Development review

We're back at the paeditriacs again. Now B's problems are listed as developmental delay, severe speech and language delay, possible social communication disorder, abnormal corpus callosum on MRI brain scan.

I have brought up my concerns regarding the MRI brain scan and the possibility that B may have a spectrum disorder which falls under the diagnostic label of corpus collasum agenesis (I've been playing Dr Google again). The paeditrician has discussed this with the neuro-radiologist and he is of the opinion that the MRI does not confirm corpus callosum agenesis. The neurologist's opinion following an assessment last year suggested possibility of congential infection. However it is no longer possible to confirm this. B's guthrie card test which is screened for congenital infections was reported as normal. A full blood count in October 2011 showed a midly reduced serum ferritin. He has been started on iron supplements by the poo doctor.

B is howing signs of a social communication disorder. He has no speech and his communication is motoric. He interacts fairly well but his play is largely solitary. He is on the waiting list for assessment at the Join Social Communication clinic. He is also known to the regional genetic service where investigations are being undertaken to determine the reason for his global developmental delay. No results have been received thus far.

It's been agreed that it may be advisable to add to his list of diagnostic problems abnormal corpus callosum on MRI brain scan. However one cannot conclude that he falls within the spectrum of corpus callosum agenesis or hypoplasia.

I have requested a Re-referral to neurologist to consider questions about corpus callosum agenesis. More tests to exclude Prader-Willi syndrome.

Monday 14 November 2011

Doctor Poo

I got a letter today from the man we call the Poo Doctor. Really he is a Consultant Paediatrician in the area of gastroenterology. We went to see him in September because B has persistent loose stools and it's proving difficult to toilet train him.  The results of the poo sample (that was fun collecting that I can ensure you - not) indicated a normal haemoglobin but a slightly low serum ferritin. Plasma, lactate and uric acid were normal. Eosinophil count was very mildly elevated but there was no history available of any allergic diathesis or food allergy. Elastase was normal. And not sufficient to test for reducing substances.

Suggested iron supplements and recheck full blood count and ferritin after three months. And fresh sample of stool (fantastic!) to be sent to look for reducing substances. And no routine follow up.