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.
This blog started off as Living Without A Diagnosis. But after 5 and half years we have a diagnosis.
Showing posts with label gross motor delay. Show all posts
Showing posts with label gross motor delay. Show all posts
Tuesday, 21 June 2011
39 month developmental check
Wednesday, 8 September 2010
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.
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.
Thursday, 24 September 2009
First appointment with the consultant paediatrician
We have an appointment with the consultant community paediatrician today. B has been referred by the paediatric physiotherapist and it's noted that the registrar in paediatrics reported his motor delay and faltering growth. His growth has now improved (hurrah)
B is 18 months old and he isn't standing or walking. He started to commando crawl at about 12 months. His fine motor skills are okay, he uses both hands well and he can build towers and finger feed himself. He has no recognisable words but he does babble. I'm in trouble again because B did not have the newborn hearing screen. He was born at home and I didn't see the point in taking him to hospital the day after he was born for a hearing test. I kind of had better things to do! B's understanding is okay and he enjoys different toys and engages in pretend play. His general health is fine but he has had a urinary tract infection and had antibiotics. When held by his arms he bears weight on both feet flat to the floor. His toes are splayed bilaterally and there is some outward rolling of his feet. He has brisk deep tendon reflexes globally and his ankle joints are quite flexible bilaterally.
The paediatrician concludes that B can presently be described as a late walker, however in view of his abnormally brisk deep tendon reflexes weight bearing on the medial border of his feet with splaying of his toes, as well as hyper-flexible ankle joints, he will need to be kept under review because he might have an evolving motor disorder which is masked by his hyper-flexible joints.
She wants to review him in three months but in the meantime he will continue to receive physiotherapy input.
In view of his late speech and lack of uptake of newborn hearing screen (see they're at it again) a referral has now been made to Audiology. I have to report a history of hearing loss in my family. A referral to speech and language therapy will be made.
I go home a bit confused and Google the things the Paediatrician mentioned to me. I am starting to read between the lines. B has "hyper-mobility syndrome". Why can't they just tell me that instead of fluffing it up with techno jargon. I start to panic myself when I see mentions of Ehlers-Danlos Syndrome - hyper-mobility is a feature of this rare medical condition. I'm searching for answers myself.
B is 18 months old and he isn't standing or walking. He started to commando crawl at about 12 months. His fine motor skills are okay, he uses both hands well and he can build towers and finger feed himself. He has no recognisable words but he does babble. I'm in trouble again because B did not have the newborn hearing screen. He was born at home and I didn't see the point in taking him to hospital the day after he was born for a hearing test. I kind of had better things to do! B's understanding is okay and he enjoys different toys and engages in pretend play. His general health is fine but he has had a urinary tract infection and had antibiotics. When held by his arms he bears weight on both feet flat to the floor. His toes are splayed bilaterally and there is some outward rolling of his feet. He has brisk deep tendon reflexes globally and his ankle joints are quite flexible bilaterally.
The paediatrician concludes that B can presently be described as a late walker, however in view of his abnormally brisk deep tendon reflexes weight bearing on the medial border of his feet with splaying of his toes, as well as hyper-flexible ankle joints, he will need to be kept under review because he might have an evolving motor disorder which is masked by his hyper-flexible joints.
She wants to review him in three months but in the meantime he will continue to receive physiotherapy input.
In view of his late speech and lack of uptake of newborn hearing screen (see they're at it again) a referral has now been made to Audiology. I have to report a history of hearing loss in my family. A referral to speech and language therapy will be made.
I go home a bit confused and Google the things the Paediatrician mentioned to me. I am starting to read between the lines. B has "hyper-mobility syndrome". Why can't they just tell me that instead of fluffing it up with techno jargon. I start to panic myself when I see mentions of Ehlers-Danlos Syndrome - hyper-mobility is a feature of this rare medical condition. I'm searching for answers myself.
Wednesday, 8 April 2009
Health Clinic
We're back in the health clinic today regarding the motor delay, faltering growth, puffy feet and now iron deficiency anaemia.
B is 13 months now. He has been put on the waiting list for Physiotherapy. He's been taking prophylactic dose of Ironorm for the last week. And been switched to follow on milk instead of cow's milk. He is doing well and eating a normal diet. He's been more "lively" since the last visit. He is now sitting up mostly unaided and can save himself sideways but we're putting cushions behind him just in case he falls backwards. He will now weight bear through is feet if he is held standing. He can roll from front to back and vice versa and get round a whole room this way. He is pushing up onto forearms and kicking his legs. We're happy he has made some progress in the last two months. Caeliac screen result is outstanding
This time I remembered to bring in his sibling's red books. I wanted to prove that both older children dropped down the centiles and are proportionate height for their weight. We're talking about everyone's milestones. A was a bit late he crawled at 15 months and walked at 18 months. L was much quicker. She cruised at 10 months and was walking by her first birthday. We put this down to the fact she was a second child who needed to act fast to get away from her older brother! I reported that I was a bottom shuffler and walked before my second birthday. B's daddy couldn't remember when he walked. I told the registrar that I thought B being left on the floor to play with his siblings was making him lazy and impacting on his development.
B is 13 months now. He has been put on the waiting list for Physiotherapy. He's been taking prophylactic dose of Ironorm for the last week. And been switched to follow on milk instead of cow's milk. He is doing well and eating a normal diet. He's been more "lively" since the last visit. He is now sitting up mostly unaided and can save himself sideways but we're putting cushions behind him just in case he falls backwards. He will now weight bear through is feet if he is held standing. He can roll from front to back and vice versa and get round a whole room this way. He is pushing up onto forearms and kicking his legs. We're happy he has made some progress in the last two months. Caeliac screen result is outstanding
This time I remembered to bring in his sibling's red books. I wanted to prove that both older children dropped down the centiles and are proportionate height for their weight. We're talking about everyone's milestones. A was a bit late he crawled at 15 months and walked at 18 months. L was much quicker. She cruised at 10 months and was walking by her first birthday. We put this down to the fact she was a second child who needed to act fast to get away from her older brother! I reported that I was a bottom shuffler and walked before my second birthday. B's daddy couldn't remember when he walked. I told the registrar that I thought B being left on the floor to play with his siblings was making him lazy and impacting on his development.
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