Hi, I am new to this site, but I suffer from Osteogenesis Imperfecta , I am a type I . I had a son who is 25 now, who is a type III the more severe type. Like you , I also took my son to emergency, knowing that their was a possibility of him having this, since it ran in my family, and it was discovered he had had 4 breaks before 2 months, which my mother and I concluded were from the force of the birth. Like you I was also accused of child abuse right away and questioned extensively even though we have 4 generations at the time who were living with it. It can be passed thru the genes or become a spontaneous genetic mutation. At that time there was very little known and little research for this disease. Since that time, my son was put on a trial study thru Shriner's hospital for IV bisphosphonate therapy to cause the bone to build on itself and actually get stronger. Now they have approved use of bisphosphonates to treat some bone related diseases. Genetic tests are also available now to test abnormality on certain genes. A good geneticist and a well versed pediatric orthopedist is needed for good management of this disease, It never goes away but it is managable, and by being careful. Wormian lines in the brain are often a good indicator of OI but many doctors do not know to look for them in the skull and often jumping to the conclusion of abuse is common. Blue sclera in certain forms is also a pretty good indicator. I am now 44 years old and have lived with this all my life. My family has had at least 6 generations of this and it can be traced all the way back thru my mom's ancestry in Hungary...I wish you good luck with your son, I am not a doctor , just someone who has extensive knowledge of this and wants to help. The Osteogenesis Foundation is also a good source for the most current information. They can be of great help to you if you need to know any new developments concerning the disease. I hope I was able to answer at least some of your concerns.
Thank you both so much!
Corkatbac - I was also thinking the EXACT same disease, and a geneticist is testing Dameon for it next thursday, the only problem with that is it takes 6-8 weeks for the results to come back, and I can only have supervised visitation with my son 7am-10pm, my sister is caring for him until we find out what's wrong with him. And 6-8 is TOO LONG not to have my son where he belongs.
Furballsmom - I will also have that checked out if Dameon's OI test comes back negative. Thank you!
Thank you guys again!
I was thinking about a recent newsletter I read from the Vitamin D Council. In that newsletter there were some children who had multiple fractures and the parents were automatically accused of child abuse. I don't remember what finally prompted doctors to test their vitamin D levels, but they were all severely deficient. They were given IV vitamin D, but they weren't getting any better. The tests showed that they were still severely vitamin D deficient, yet the doctors knew that the children had been given plenty of vitamin D. So, they called the disorder Vitamin D Resistant Rickets. Then, someone got the bright idea of giving the children magnesium while they were still in the hospital. They rapidly improved and in a short time no longer had Rickets. These were African American children, but I've been learning that very often the mother is already vitamin D deficient while she is pregnant, so many babies of all ethnicities are born already vitamin D deficient.
I'm not saying that I know what is happening with your baby or to suddenly start giving the baby more vitamin D than you might already be giving him. I'm just thinking that this could be a possibility of what could be happening to the little guy. Or, it could be what the previous post ^ was talking about, too. I've heard of that before. I didn't see that episode of Home Edition, but I do remember hearing about some fragile children that pretty much couldn't be touched normally, because of their bones breaking very easily. I'm pretty sure that it was Brittle Bone Disease that I read about when I read about someone's life experience as a child, too. I wonder if vitamin D supplements would help with Brittle Bone Disease? I don't know, but people know more about vitamin D than they used to. But, they're finding out now that the RDA for adults is far too low, as is for children. I don't remember what the RDA is for infants. So, I can't comment on that. That is something that would need to be discussed with your son's doctors.
I am not a doctor, but when I was watching extreme make over home edition one time there was a little boy who had a rare bone disorder. I think they called it glass bone disease, or brittle bone disease. Brittle bone disease (osteogenesis imperfecta)-What is osteogenesis imperfecta?
Osteogenesis imperfecta (OI) is the most common disease causing fractures in childhood. It also causes fractures in adults.
OI is a genetic disorder usually resulting from abnormalities of the genes that control the production of a protein called collagen; which is the main protein in bone and essential for its strength. The fragility of bone in OI is due to the collagen problems; it has nothing to do with the calcium part of bone, which is what shows up on X-rays.
In the United States the corresponding society is the Osteogenesis Imperfecta Foundation (www.oif.org).