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.
This blog started off as Living Without A Diagnosis. But after 5 and half years we have a diagnosis.
Showing posts with label hyper-mobility. Show all posts
Showing posts with label hyper-mobility. Show all posts
Wednesday, 21 April 2010
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.
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