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.

Tuesday, 21 June 2011

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.

Monday, 11 April 2011

More genetic results

I get a letter today with the results of genetic testing for B to exclude Angelman syndrome. The test has come back normal. B is going to be recruited onto the DDD study (Deciphering Developmental Delay) which will be starting in a few months' time.  As usual the news of a condition B doesn't have always comes with mixed reaction. I research the syndrome get myself in a panic and then feel relieved when he doesn't have it and then angry and upset again because we don't know what we're dealing with. I always think forearmed is forewarned. I crave knowledge on every topic. It's frustrating that we can't tell people what's 'wrong' with B.

Thursday, 7 April 2011

Developmental review

Back at the paediatrics today for a review of B's progress. The current problems are now history of mild motor delay, non-specific abnormality on MRI brain and social communication difficulties.

B is now walking independently. He still tends to trip and fall easily. Main concern now is his lack of speech. He makes occasional sounds but he communicates in a motoric fashion. He pulls our hands to the area he needs to get something from. We go through the motions of guessing what he needs. Once his need is identified, he quickly takes whatever it is and moves away. He has no imaginative play and needs to be guided to complete new activities. He has had no contact from speech and language recently and this will be chased up. I ask for support with toilet training and will be contacted by a health visitor.

B will get referred to the joint social communication clinic for a review.

Friday, 25 March 2011

Genetics Service

It's B's third birthday today and we're back in hospital meeting the clinical geneticist from the south west Thames regional genetics service.. He has been referred by the Paediatric neurologist. They want to consider if there could be an underlying genetic diagnosis for B's problems. There is no significant family history of note. We go over B's birth history and my pregnancy and she makes notes about this. I have to go over the last 3 years again explaining that we had concerns about his development in the first couple of months particularly when we noticed that he was not reaching and did not roll. His is unsteady on his feet and falls over frequently. He has difficulty climbing stairs and getting on and off seats. He has been delayed on all important milestones. His fine motor skills are more age appropriate although delayed. He can pull up a zip and use a knife and fork. His understanding is inconsistent and he doesn't always respond to his name.. Sometimes he follows simple tasks. We're using Makaton but he does not have a good understanding of this.

He vocalises but has no words. He's currently getting one-to-one support at pre-school. He is quite chesty and often has a cough or cold. Cystic Fibrosis has previously been excluded. He has no heart or kidney problems. His urine smells quite a bit and can be quite dark yellow and it's not affected by what he eats or drinks. He has puffy feet which turn bright red sometimes. But it doesn't cause him any discomfort.

B looks like his brother and sister with no unusual features. He had some molluscum on his head. He has normal hands, normal skin pigmentation and normal heart sounds. He had a chesty upper airways but a clear chest. He was hypo-tonic (poor muscle tone). On standing his feet became puffy and developed a striking red colouration which sometimes rises to his ankles. There was no pitting or indenting when pressure was applied.

B had already had a special genetit test called an array which looks in close details at his chromosomes and is normal. In view of his absent speech she wanted to exclude one diagnosis and organised this on the stored DNA. She explained that when considering genetic conditions they look for specific clues in how children look or behave. With B there are clues which suggested a particular diagnosis which can make it difficult when trying to reach a diagnosis. Genetic testing is improving all the time and this might help make a diagnosis for B. I'm told that B can join a large study called DDD (Deciphering Developmental Disorders) in a few months time. They are going to use the very latest technology and are looking specifically at causes of developmental delay in children like B. No more appointments but they will let me know the outcome of the additional test that's requested and with regards to the DDD study.

Friday, 21 January 2011

Neurology appointment

We are going to see the visiting Neurologist today to discuss the results of his MRI scan [note why such a delay - Kat]. B is now aged 2 and 10 months. She reports that she does not think he was dysmorphic and there were no neurocutaneous abnormalities. He is hyptonic and has doughy texture to his skin. Muscle bulk is normal, there is no muscle weakness and his deep tendon reflexes are easily elicited. There are no extrapyramidal or cerebellar signs. He demonstrates good fine motor skills.

Unfortunately there are no clues in the history or examination to make a specific diagnosis. His MRI scan whilst abnormal is not diagnostic. It is reported as showing prominent ventricles as a result of loss of white matter volume and a thin 'featureless' corpus callosum. In addition it was mentioned that the right choroid plexus appears attached to the ventricular margin raising the possibility of in utero hemorrhage or infection. My flu-like illness during pregnancy may be relevant but there was no specific test that can be done to confirm this. The MRI findings are not typical of these seen with more established congenital infection such as CMV or toxoplasmosis.

She is testing his uric acid and an array CGH.

We ask her about B's future and she says that the gap between B and his peers will widen as he gets older and whilst the diagnostic label is global developmental delay, it does not unfortunately imply that children may "catch up". No review appointment.

B's daddy and I leave this appointment like we've been smacked in the face with a baseball bat. This is a lot to take in. We read between the lines and think what she is saying is that we face the prospect that B will always be delayed and will never be normal. She has told us in the nicest possible way but it still hurts. We had been building up to this moment for a long time but it always comes as a shock to receive news like this. You sit in the waiting room sweating and then you sit in their office sweating. It's always hot and I get a bit panicky and bile rises up in my throat. I really wish I could record this conversations and really should make notes because I forget so quickly when I leave the room. You need a medical dictionary and a jargon buster to decipher what they are saying.  She hasn't given too much away and I go home and Google.

I Google "thin, featureless corpus callosum" and find out this has a name. It's "Agensis of the Corpus Callosum". I don't understand why the Neurologist didn't just say this. I'm playing Dr Google. The health professionals hate it that I do it but I can't help myself. I want to know everything. B ticks many boxes in the symptoms of a callosum disorder and I can see the similarities.

Wikipedia says "Agenesis of the corpus callosum is caused by disruption to development of the foetal brain between the 3rd and 12th weeks of pregnancy.[2] In most cases, it is not possible to know what caused an individual to have ACC or another callosal disorder. However, research suggests that some possible causes may include chromosome errors, inherited genetic factors, prenatal infections or injuries, prenatal toxic exposures, structural blockage by cysts or other brain abnormalities, and metabolic disorders" 

 I make a mental note to ask the paediatrician about "agenesis of the corpus callosum" at B's next review.