EEG test letter

I get a letter this week with details of B's EEG appointment following his discharge from hospital. They reckon the test is not painful or unpleasant and will take about 45 minutes to perform. A had an ECG a while back so I sort of know what to expect. They are going to stick little pads of wires all over his head and monitor his brain behaviour. This is going to be a challenge as B won't sit still - ever. Even when he is asleep he fidgets. They can't knock him out like they did for the MRI because they need to have B awake to get the figures they need. I'm a bit nervous about this appointment. I don't know how it's going to go. B's daddy can't come with me because he is already leaving work to come to B's geneticist appointment later this week. These things all seem to happen at once. It's a busy week with appointments for all the children. B is also due to see CAMHS. Nanny offers to come with me for the appointment which is helpful although I've been informed from when I took A that only one person is allowed in the room at the time.

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.

Paediatrician appointment

We're back at the paediatrician's today regarding delayed walking and abnormal brain MRI scan.

B is still not walking independently although recently he has started to take about 2 to 3 quick steps which are poorly co-ordinated. He is also delayed in other aspects of his development including his speech and language. He has made some progress in his play however it can be repetitive and he needs help to move on to a different activity. He has started using motoric type of communication such as using our hands to indicated what he wants. His eye contact is fair and he responds to his name but inconsistently.

Neurological examination is the same as before with asymmetrical brisk deep tendon reflexes and globally reduced muscle tone especially in his lower limbs. He is now beginning to stand, knee walking very well and when led by both hands he walks with a wide base gait and tends to drag his left leg.

B's MRI has shown some generalised non-specific abnormalities (gee that's helpful) with slight prominence of his ventricles and thin, featureless corpus callosum. There was also limited preriventricular signal change around the trigones of both lateral ventricles.

He has had some plasma amino acids and organic acids done. Initial blood tests showed a generalised raised amino acid pattern and therefore this was repeated. His repeats have shown slightly raised alanine and proline. She is unsure what the significance of this is.

In view of all of the above symptoms, and his abnormal investigations, b will be referred to the Neurologist for a second opinion to enable us to reach a more conclusive diagnosis.

MRI Scan

Today is B's MRI scan. This is one of the scariest days of my life. We go to the big children's hospital instead of our local hospital and head for the Neuroradiology department. B's isn't allowed any food, only water in the morning and that's it. He is going under general anaesthetic and I'm terrified. When they put him under he goes all floppy and looks more asleep then when he's asleep (he normally fidgets in his sleep). He looks dead to me and I burst into tears. I know he will be fine but I don't like seeing him like that. I'm so glad B's daddy is with me for comfort. I would never have got through this appointment on my own. We have to wait patiently whilst they take our sleeping prince off for the scan. It doesn't take too long but when they bring him back to ward he is still asleep and has difficulty waking up. It's such a relief when he does wake up and gets back to his normal cheeky self. Now we have to wait again for the results of the scan.

Paediatrics

We're back in the paediatric today for a review of B's motor progress. He is just over 2 years old now. Pulling himself up to stand and cruising around furniture. He takes some steps when held by both hands but his gait is asymmetrical with a slight dragging of his left leg.

He has marked hyper-mobility and his reflexes remain exaggerated. Muscle tone is slightly low but  this might be related to his hyper-mobility.

I've been researching cerebral palsy and ask the paediatrician about this. She decides to organise an MRI brain scan and do creatinine kinase enzyme levels. Physiotherapy to continue and a review of B once the results of the tests have been received.