Discussions By Condition: I cannot get a diagnosis.

Getting nowhere with my 3 year old little boy.Any comment/help would be very greatful

Posted In: I cannot get a diagnosis. 0 Replies
  • Posted By: Anonymous
  • November 20, 2009
  • 11:36 PM

I have a little boy Bradley who has just turned 3 his height is 81cm and currently weighs 23lb(been tube fed since march). Bradley had reflux up until the age of about 1 and since then doesnt like eating, but seems more like hes full when he hasnt evan eaten anything as he gags.

Bradley started sitting when he was about 11months a few months later started **m shuffling but never crawled and was walking at about 20 months he could only say simple words like dada not evan mama up until he was about 2 1/2 but over the last few months his speach is brilliant you can hold a proper conversation with him its quite unbeleivable really he can speak better than 4 or 5 year olds.

Hes seen his pead and dietician since he was a baby and made visits about every 2 months but nothing seemed to be done his bloods showed up normal, we saw a genetic consultant a few months back who took our family history ect i told him i thought he might have RSS has he has most of the symtoms but he said it was not possible as Bradley was born too big at 6lb 6lb which i think is quite small as his little sister was born 9 2 1/2 anyway he took a look at Bradley checking his hands were his 5th fingers and index fingers curve inwards and his hands are small, he noticed his arms are alot smaller then they should be he never mensioned anything about his legs being small but they obviously are because hes only just growing of his 9-12 month jeans, he noticed his 2nd toes were overlapping his 3rd toes and his feet are small size 4 also Bradley has really long eyelashes his hair grow very fast and his back is quite hairy for a toddler.

The genetic consultant sent for Bradleys chromosone 7 to be checked and it showed that normal and also his chromosone pattern is normal which i don't really understand. Does that me he doesn't have a genetic or growth condition?

Bradley recently had a bone xray which only showed his arms are shorter then they should be which i was quite shocked at cos his bones are not normal its sooooo obvious, He also had a scan to check his stomach was working normal were he drank this dye they see through the ultrasound and that showed normal too.

Bradley has a 17 month old sister who is the same height and weight has bigger hands and feet and has no problems at all with eating or with her bones i often get asked if there twins when Bradley is almost 2 years older than her. Bradley will be back to see the pead next week and we can also see how his last bloods went i think there checking his growth hormone this time so hopefully something shows up because we know somethings not right

Thankyou for reading if you got this far any comments would be great especially about the chromosone pattern.

Kelly and Bradley
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