First Email from Dr. J.

I am a practicing nephrologist in Ohio and have 6 month old twins, a boy and a girl.  Nine weeks ago I noticed my daughter’s leg was externally rotated and swollen so I ordered an xray and she had a transverse fracture of her mid femur.  I then took her to a children’s hospital an hour away to the ER for a pediatric orthopedic surgeon to evaluate her fracture.  From the time we entered the ER until we were discharged the next day the only thing the physicians and staff there would entertain as the etiology of her fracture was of course abuse.  They made her get a CT of the head and a skeletal survey that consisted of 22 films.  They did not find any additional fractures or defects in bone mineralization. 

They did do a 25 Vit D and the level was 12 ng/ml, reference per lab 30-100 ng/ml.  Her intact PTH 46 pg/ml Ca 8.9 mg/dL, Phos 5.3 mg/dL

Children services tried to get my other twin and 2 1/2 yr old skeletal surveys.  My 2 1/2 yr old’s was read as widening of the zone of provisional calcification at multiple epiphyses, no fractures.  My 6 month old son’s was read as prominence of the zone of provisional calcification at the distal femur epiphyses, no fractures.  I also checked his 25 Vit D level and it was 11.6 ng/ml.  I also checked my 25 Vit D level and it was 28 ng/ml.  

Unfortunately, now CPS is taking my husband and I to court for custody of our children and our lives have turned upside down.  

When I took her back for her follow-up visit to the orthopedic surgeon two weeks after her fracture, I obtained a disc with her CT and skeletal survey.  Her head CT looks like to me she has craniotabes on her parietal and occipital bones.  

Does this sound like a case of infantile rickets to you?  I would greatly appreciate any advice or insight you may have to offer as I know it wasn’t child abuse that caused this fracture.  My husband and I both have a history of vitamin D deficiency.  In addition, my twins have been primarily breastfed as was my older son.  I was never instructed to supplement with vit D.  I also took TUMS while I was pregnant and had severe musculoskeletal symptoms.  

Dr. Holick’s Evaluation of Dr. J. and her twins;

After reading Dr. J’s email it was evident that her twins had severe vitamin D deficiency that can cause infantile rickets.  Infantile rickets is associated with skeletal fragility.  I saw Dr. J and her twins in my clinic.  Based on the medical history and physical examination of Dr. J I concluded that she had the bone fragility genetic disorder Ehlers Danlos syndrome.  An evaluation of her twins revealed that they had many of the medical conditions consistent with them having acquired it from their mother.  I explained to her that the more likely explanation for the fractured leg that her daughter experienced was likely due to the combination of Ehlers Danlos syndrome and vitamin D deficiency infantile rickets and not due to child abuse.  Happily her children were returned to her and her husband.  This is another good example of how a pediatrician who lacks expertise in metabolic bone disease rushes to judgment that the fracture observed in the doctor’s daughter had to of been caused by child abuse.  You will read from Dr. J the emotional trauma that she and her husband experience as a result of this misdiagnosis.

Please see the letters from the parents as to what they experienced as a result of to being falsely accused child abuse and how I helped them be reunited with their child in ‘Letters from Parents Who Dr. Holick helped’.