Madeline Rose was born a few days before Thanksgiving in 2010, weighing 9 lbs 4 oz. The NICU doctor in the OR room immediately diagnosed her with achondroplasia. A skeletal survey was done later that day to confirm the diagnosis. Because there were several characteristics that did not match with achondroplasia and they thought she might have a different form of dwarfism, Maddy had a blood test taken when she was 3 weeks old. That test showed definitively that she has the FGFR3 genetic mutation that is present in most cases of achondroplasia. We finally had her diagnosis.
We moved back to the states so Maddy could be seen by doctors familiar with dwarfism. She has been diagnosed with some of the medical issues common in achondroplasia: hypotonia, kyphosis, mild obstructive and central sleep apnea, cervical stenosis and spinal cord compression. She has ear tubes and had spinal cord decompression surgery.
Maddy is the light of our lives. She has had medical problems and might have more over the course of her life. As a person with dwarfism, she may have more struggles to overcome than other people. But we are here for her and wouldn't change her for the world. She is our sunshine girl and the world is a better place with her in it.
To read about her story from the beginning, start by reading this and click on the "diagnosing Maddy" label at the end of the post.
