2 year old with hypotonia, hypermobile and hereditary hypophosphatemic rickets

[shabana2303]

Hi all

This is my first thread on this website and hope i can get some advice.

My daughter is 2 years old and was recently diagnosed with hereditary rickets. She loses vitamin d and phrosphate through her urine making her bones very soft.

First picked up a poblem when she was not weight bearing at all and at 9 months was happy to sit. I got her referred to a orthopedic doc who just wanted to wait out the 18 month deadline. come when she is 18 months he decided to refer her to a pead. He diagnosed that she had rickts and started her on meds. he also refered me to physio. First appointment at physio the lady noticed that my daughter who has started walking since october has a wide gait (walks abit like a zombie) with her bum and tum out and she is constanly falling over. she also said that she was hypermobile and had low musle tone in her legs. she would refer her to get orthic shoes as she was also flat footed. Physio recommended that i buy a little trampoline for her and take her to soft play gym. I have another physio appointment in 2 weeks time. I was really hoping if any of the mums who have been in this process to let me know what sort of questions to ask, should i ask for a occupational therapist, how can we help at home, what other services should be involved to help her. The hypermobility and hypotonia were diagnosed with the doc and the physio just checking her hands, legs and feet. no tests have been done. any advice will be much appreciated.

Sorry, no specific help to offer you, but I know a family (in my hometown) where a large proportion of the family have vit d resistant rickets, and I've never heard of anyone else who had it.

The SN board ladies are brilliant with OT and physio stuff, so you might do well posting over there

could she be coeliac? coz coeliac is hereditary and it causes malabsorption of fat soluble vits like D (+others) and a fequent cause of rickets generally. Meds alone just for bones might not be enough long term (also watch meds side effects - my friend declined meds for bones for her disabled ds b/c of side effects).
If she was mine, I would test for coeliac and for vitamins and nutrients and work on improving absorption.
Physio etc is fine, but you need to work from the inside, b/c if she is not absorbing D then she is prob not absorbing other nutrients either.

thank you nightcat for replying. what you say makes sense. i have had a quick look at the coeliac website and i can tick off 2 of the symptoms that she has. i have an appointment to see the pead early jan so will push to have this test done. many thanks for your advice.

hi my 18month old is also hyper-mobile so i no what you are feeling in been a bit lost!
my daughter could not put her feet down until she was 14months old and she still can not walk or talk. i have been told that she might not do either until she is 2/ 2 and a half, i am having something called a NPACT which involes all the health professionals getting together to discus her all at once rather then me going to and from, she currently sees a speech therapist, physio and 3different paediatrics, (soon to be 4). hopefully she will soon just see one person who can do everything, can i ask what pushchair do you use? my daughter is as tall as her 3year old cousins (me been 5'10 so its no surprise really) but my daughter can not keep her legs up on a foot rest, so they dangle on the wheels?

hi my name is michelle i have rickets there is alot of things that you are going to need to know about to help her i am sorry to say this but if she is any thing like me then when she is older she will be in pain when walking there are things out there that will help if u ever want to talk about what might happen then let me know :) i hope that i can be of some us as i was told that i had rickets when i was a kid and i am now 24.

Hi michelle
thank you for replying

at the moment my ds is only 2 and half. she doesn't complain of pain yet and her walking has got better since my last post but she still has a wide gate which is noticeable. She has a defective hip which the orthopedic said they would operate on when she is at least 9 years old. they can not operate on her at present due to the rickets, her body would not beable to cope with a major surgery. how has rickets effected your life i.e school,sports, work etc. do you take meds? my ds take ergocalciferol and phosphate sandoz. what do you feel i should be doing which has helped you?

Can you update how ur child is doing after treatment? I am in the same boat and need some advise? Which dr / specialist you r seeing and how ur child is responding to treatment?