Answers

Billy got a call today while at work saying that we could bring Connor into Shriner's Hospital TODAY! We obviously were not going to turn this opportunity down. Our prayers were answered! It wasn't to meet with genetics it was to meet with an OI Doctor (Osteogenesis Imperfecta). 2 Doctors have said that they thought he has this. After 5 minutes of looking at Connor she told us that he has Osteogenesis Imperfecta. It was so nice to finally hear it. How sad is it that it is nice to be told your son has a disability? Well when you have known something is wrong with him for 3 years and been waiting for answers it is. We knew he had a bone disease. We knew it was 50/50 with being this or osteopenia. For those of you that don't know what osteogenesis imperfecta is it is a: genetic disorder characterized by bones that break easily, often from little or no apparent cause. A classification system of different types of OI is commonly used to help describe how severely a person with OI is affected. For example, a person may have just a few or as many as several hundred fractures in a lifetime.

Connor has type 1 which is the mild type. Here is more information on Type 1.

• Most common and mildest type of OI.
• Bones fracture easily. Most fractures occur before puberty.
• Normal or near-normal stature.
• Loose joints and muscle weakness.
• Sclera (whites of the eyes) usually have a blue, purple, or gray tint.
• Triangular face.
• Tendency toward spinal curvature.
• Bone deformity absent or minimal.
• Brittle teeth possible.
• Hearing loss possible, often beginning in early 20s or 30s.
• Collagen structure is normal, but the amount is less than normal.
• Weak tissues, fragile skin, and easy bruising.
• • OI Type I accounts for 50 percent of the total OI population.
  • Type I is characterized with mild bone fragility, relatively few fractures, and minimal limb deformities. The child might not fracture until he or she is learning to walk.
  • Shoulders and elbow dislocations may occur more frequently than in healthy children.
  • Some children have few obvious signs of OI or fractures. Others experience multiple fractures of the long bones, compression fractures of the vertebrae, and chronic pain.
    The intervals between fractures may vary considerably.
  • After growth is completed, the incidence of fractures decreases considerably.
  • Blue sclerae are often present.
  • Typically, a child’s stature may be average or slightly shorter-than-average as compared with unaffected family members, but is still within the normal range for the age.
  • There is a high incidence of hearing loss. Onset occurs primarily in young adulthood, but it may occur in early childhood.
  • People with OI Type I experience the psychological burden of appearing normal and healthy to the casual observer despite needing to accommodate their bone fragility.
  • The absence of obvious symptoms in some children may contribute to problems at school or with peers.
  • Significant care issues that arise with OI Type I include gross motor developmental delays, joint and ligament weakness and instability, muscle weakness, the need to prevent fracture cycles, and the necessity of spine protection.
  • Family members should carry documentation of the OI diagnosis to avoid accusations of child abuse at emergency rooms.
  • The treatment plan should maximize mobility and function, increase peak bone mass, and develop muscle strength. Physical therapy, early intervention programs, and as much exercise and physical activity as possible will improve outcomes.

Connor meets almost all of these. It's weird because I knew he had a brittle bone disease but now it is really reality. I am relived that a Doctor finally told me what he has and gave him a diagnosis. At the same time I am scared, worried, and stressed. I know God sent him to me for a reason. I am supposed to be his mother. God knows I can handle it. I just feel incompetent at the same time. Lots of mixed feelings and emotions. It's weird because I have a gifted disabled kid. I have a kid that is beyond advanced intellectually and behind physically and with motor skills. I just worry about how it will be when he goes to school. How will the kids treat him? OI Type 1 is often called a "invisible disorder" because it is not apparent to the casual observer. Kids will wonder why he looks and acts normal but isn't. My biggest fear is him being bullied and made fun of. I'm sure every parent has that fear but when your child has a disability it is even worst. Connor is also very passive aggressive. He gets it from me. I read on the oi foundation page to make sure you tell teachers that if your child has a fracture to know that it is not their fault. Also to emphasize that the benefits gained by the child’s participation in a regular school program far outweigh the risk of a fracture, which could occur wherever the child may be.

OI is a genetic disorder but for Connor he is the carrier of it. Billy and I both don't have it or a family history of it. Basically Connor has a spontaneous mutation of OI which happened during conception of him. It is not mine or Billy's fault just something in the sperm or egg got mutated. Nothing we did caused the spontaneous mutation to occur. Now that he is an OI carrier he has a 50% chance of passing it on to his kids. They are almost positive that Jack does not have it. Because Connor is the dominant carrier and not Billy or I it means Jack does not have it. Just by looking at Jack she could tell he didn't have it. If he does have a fracture they will test him for it though. We still are going on July 13th. It is to go to the OI Clinic. It will be A LOT of Doctors, and Tests. Their will be like 6 Doctors even a Dentist. They still want us to take him to genetics too. They said it doesn't have to be really soon. They are going to call us and let us know when. I read that it is important to realize that no matter how careful a caregiver tries to be, it is impossible to protect a fragile child from the pain of broken bones. Reading this made me feel better because it is so hard to not blame myself every time he breaks his leg so easily. It also said that it is a struggle to find the right balance between protecting from harm and encouraging the child to try new things. The Doctor today said that Connor shouldn't jump on a trampoline or climb monkey bars. She also told us that we really need to be careful to not tell the child "You can't, You can't". She said he shouldn't play football but it is very important that he stay very active. People with OI are encouraged to exercise as much as possible to promote bone and muscle strength, which can help prevent fractures. Walking and swimming are great exercises for him and should be done all the time. They will help his bones get stronger. We have to monitor what physical activity he does but not decrease his physical activity level at the same time.

A surgical procedure called “rodding” is frequently considered for people with OI. This treatment involves inserting metal rods through the length of the long bones to strengthen them and prevent and/or correct deformities.that Rodding Surgery is recommended for children that repeatedly break a long bone which Connor does. They wouldn't do the surgery until he is at least 8 though. Well like I said we are relieved to finally have been given a diagnosis and answers. Billy said he wanted to hug the Doctor lol. We knew he had something now we finally know what it is. Their is treatment but they only like to give it to people with moderate or severe oi not mild. They said if he had 2-3 fractures in a year rather than 1 then we could look into the medicine treatments. The Doctor wrote a thing for our Pediatrician to test Connor's Vitamin D levels when he gets his cast off next week. If it low they will prescribe him Vitamin D supplements which can help. I told my mom that I think my Grandma was up in heaven saying July 13th?! They can't wait till then to find out what is wrong with him they need to find out NOW. It sounds just like her and I know she is looking down on us and had a hand in us getting answers. Please keep Connor in your prayers. I now know that it is not just my gut saying that he has something but that he does and I know what it is. I just need to stay positive and be there for Connor.