So the next day we go back over the hospital to see Dr. Bober. After we have registered ,we were sitting in the waiting area. Who should walk down the hall? Dr. Bober and Dr. Scott. It is very rare to see Dr. Scott.They tell us they have been up all night reading Andrea's x-rays. Dr. Scott leaves and Dr. Bober takes us back.
They take us to what looks like a conference room. Now at this point in time I am thinking that this is just like the TLC shows we see on TV. The room looks exactly like the one you see on Kennedy's story. An oval table with lots of chairs all around it. There are tons of shelves that hold lots of toys for the children to play with while the parents are talking. There is a computer where they can pull up your child's x-rays to show you exactly what they are talking about.
They take a family history.They take a lot of measurements. Head, height, height sitting on the ground,arm lengths,long bone lengths. There are many measurements. They look at everything.
At this point they tell us they know for a fact that Andrea does not have achondroplasia. They know for a fact she does not have hypocondroplasia. They also know for a fact that she does not have Juenes Syndrome. Which the Pittsburgh Children's genetics thought. At this time I felt like she doesn't have all these things so what does she have?
They did know that she did have some form of rare dwarfism. They also knew that she had some achon characteristics but not all. Andrea has achon hands,head,feet,and facial characteristics. If you didn't know any better just a quick glance of her face you would think she was achon.
So what could it be? Achrodystosis . It is extremely rare. Dr. Scott has only seen one other case in his career.
The down side to this that it is rare there is not a lot of infromation out there.
Now that we have a diagnosis things seem to be calmer around here. We were suppose to go and see Dr. Bober 6 months after Andrea's appointment but we never made another appointment. We are taking the less is more approach. We see our regular pediatrician for check-ups. We have Adrea in speech and occupational therapy. We just aren't seeing anyone else at this time. Delaware is just so far away to be taking a trip every 6 months. We just can't afford to go there. There really is no one around us that has a specialty in dwarfism. If there is something that comes up we will certainly be on top of it. Until then we are just living our lives just the way we were before.
