DDD Study

I get a letter today from the South West Thames Regional Genetics Service about the DDD study. They are writing to tell me that the result of the array study undertaken on B has not so far identified the cause of their developmental difficulties. This is just a preliminary result and further research is activity continuing. Further research will include gene sequencing using the very latest technology that looks across all of the genes. A dedicated team of researchers will keep looking for a genetic diagnosis to explain B's difficulties until October 2015.

They are having considerable success in finding diagnosis for children in whom standard tests have been unsuccessful.

I'm used to hearing no news by now. I've become a little bit hard to it.

Brainwave Initial Assessment

I've got a letter this week from Brainwave letting me that B is on the waiting list for an initial assessment in 2013. I can't wait for this opportunity as Brainwave have come highly recommended. More waiting. They are temporarily suspending initial assessments due to a recruitment programme.

More genetic results

Today I get a letter from Children's Medical Services with the results of B's latest chromosomal analysis. It's reported as 'normal'. He does not have Prader-Willi syndrome. So his excessive demand for food is more related to his behaviour and global developmental delay.

Yet another condition he does not have. The list of things he doesn't have grows longer. The frustration is overpowering.

Joint social communication clinic

I got a letter today saying that following the recent ESP meeting, B is on the waiting list to be seen at the Joint Social communication clinic. They want to check B for autism. I'm not convinced he is autistic. Whilst he demonstrates traits similar to autism, he does not tick all the boxes for autism and shows many signs that are not typical of autism. He is sociable, makes eye contact and has high sensory needs.

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.

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.

39 month developmental check

I've got a letter this week from the GP surgery inviting B to attend a 39 month health check at the surgery. I have to chuckle a bit to myself about this. This is the first invite I have had. If I hadn't sort help all these years ago when I first suspected a delay, this might have been the first time it was picked up by a professional. Having older children alerted me to the fact B was not developing normally. I dread to think what a first time mum which a delayed child and no family would do. If you don't come into contact with other children regularly you have no basis for comparison.

For obvious reasons I refused this appointment. B already has so much intervention it wasn't necessary.