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.

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.

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.

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.

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.

Occupational therapy report

B was referred to children's occupational therapy by his physiotherapist with the reason for referral as sensory processing and play skills. We received a report in December 2010.

B has ongoing input from paediatric physiotherapy, speech and language therapy and is under the care of consultant paeditrician. He started nursery on 20 September 2010 and has also started input from Portage.

Ensure B has all the appropriate input to meet his fine motor and sensory development needs both at home and within the nursery setting.

Assessment took place at home using a variety of non-standardised and informal observations. B has recently learned to walk. He previously mobilised for a long time by walking on his knees. He requires close supervision due to his decreased ability to employ saving reactions when he falls. B demonstrates an unusual dyskinetic movement patterns. B is able to independently stand up in the middle of the room and will squat to pick up objects off the floor. He is less confident outside and tends to hold an adult's hand.

We are using the Mclaren Major special needs buggy outside which is working well to meet his outdoor mobility needs. B frequently w-sits and sacral sits (sitting back on his pelvis). B is able to ascend stairs on all four limbs but does not yet attempt to step. Nor does he attempt to descend stairs.

B engages in fine motor skills very well. B plays parallel to others. If he wants something he will make eye contact but this is minimal. He can use a shape sorter and puzzle. B's sense of exploration has improved. He posturally tires more easily than his peers and this is due to his low tone. We go over some self care - eating, drinking etc.

B uses vocal sounds to communicate but does not yet use words. He turns when his name is called but not consistently. He smiles and laughs. He displays hand-flapping movements when excited.  

B presents with mild delay in his fine motor and perceputal skills. B's gross motor skills have improved however he still struggles to negotiate stairs, walk outdoors and experiences regular falls. These are secondary to an ongoing decreased core stability.

Recommendations going forward occupational therapy to continue. Provision of a Heathfield chair to promote posture and functional development.

Portage Summary Report

B was referred to Portage in July very kindly by A's school Inclusion Manager. Reason for referral was global developmental delay. Portage is a home visiting teaching service for children from 0-5 years of age who are delayed in their development. They report B as having hyper-flexible ankle joints andunsteady  when standing and walking. He often falls and wears a protective helmet. General health is good with no concerns regarding hearing or vision.

B is described as being a delightful happy and busy little boy. He understands the routine of the Portage visit. Showing an interest in toys. Not yet toilet trained. Language for communication is the area B is most delayed in. He makes his needs known by a mixture of vocalising, passing objects, eye contact etc. B sometimes looks up when his name is called. He can make a choice between two objects. He is unable select a name object. He likes looking at books and mark making.

B understands that things exist even when they are out of sight. He looks for hidden objects. He can post shapes in a shapesorter. He can complete inset puzzles. He can build a tower. B loves to explore. Push and pull things, press buttons and switches.

B can crawl fast. He has poor coordination and falls often. He can stand at a table. But in unable to move from sitting to standing or climb. He cannot go up and down stairs. I want B to stay at pre-school then attend his sibling's school.

B is now almost age appropriate in his personal social and emotional development and understanding of the world but delayed by 6-9 months in his physical development and 1-1 1/4 years in his communication and language. B is making good progress.