Rickets can it show as a chromosome deletion 15q.11.2

The DNA test was done as they first thought she had Osteo Genesis Imperfecta, and when that was not the case she was removed as they never done any other testing and they called it abuse, and we knew it wasnt.

They should have followed up on looking up the cause of the fractures though, especially with the low vitamin D. I would think that the fact she was vomitting her formula led to malabsorption of vit. D, causing the deficiency, leading to rickets. Or perhaps she is deficient in an enzyme or coenzyme involved in the metabolism of vitamin D. That would mean, she was getting in enough vitamin D but that her body was not getting the nutrients as it couldn't break it down into what it needed.

I just looked it up there, rickets does actually have a genetic link but it is rare. It is autosomal recessive which would mean neither or her parents need have symptoms but she could still get the condition (1 in 4 chance). I do not know if they looked for the genes linked to genetic rickets in the DNA test, but even if she did not have the genotype for rickets, she could still have it due to malabsorption caused by the vomitting. 

Just because she doesn't have Osteogenesis Imperfecta, does not mean there was not some other cause for her fractures. I think it is awful that they blamed it on abuse and actually, quite incompetent of them. If I were you/her parents, I would go back and mention rickets. Or even get a second opinion elsewhere? Did they know about the vomitting? 

Meanwhile, the 15q11.2 condition should be treated separately and you should find out how she will need to be treated for that. As far as I can imagine the phenotype (i.e. the physical traits of the condition) would vary from individual to individual depending on big the deletion is. In fact, I have read just now that the microdeletion can be silent in some cases meaning she would be asymptomatic which is good news But you should still find out as much as you can about it and monitor her situation re. learning etc. 

Hope this has helped, 

anonymousgirl x

It is indeed a mess as we know it wasnt abuse and my daughter her mother was so devoted to her, she has the closest bond she ever had with any of her children, (the other two are by a different father), it is going to be a uphill battle as over here in they dont even take the deletion seriously, but she does already had deformity of the bone in her leg as in curves in really badly to the point she sometimes trips herself over. I fought like hell with them when this all started but we had not right and no chance to even put our side or evidence across at the time. My granddaughter was under our local GP for 6 six weeks to try and work out what the feeding problem was, my daughter even kept a diary to show what they had tried, our GP wrote a letter of support as she never had noticed not one sign of abuse but that was not even used either. Its going to be a hard battle but will fight yet again. I look at the symptons of Rickets and she has each and every one of them, it is truly incredible. Thank you for your help

anonymousgirl

Best of luck with everything and let us know if there are any developments (if you want to), 

anonymousgirl 

I have been looking through some of my old discussions and I came across this. .. you probably won't even see it. . . but I just wanted to say that I hope your granddaughter  .. . and you. . .are doing alright. 

My best wishes, 

Agirl xx