Musical Maddie!

Madeline was born on November 8th 2010 in Philadelphia, Pennsylvania by emergency c-section full term at only 5lbs and 18 1/2 inches long.


We didn’t know she had a condition. Our paediatrician noticed her nose and fingers were different and suggested we see the chief of genetics at the children’s hospital of Philadelphia.


They were not sure what was going on, but her chromosomes were normal. We had a team of doctors follow Maddie, although her only diagnosis for that time was developmental delay.


When Maddie was two and a half years old we decided to go back to genetics to see if they had other ideas, where they tested our blood with Maddie’s to look at all of our DNA.


Within eight to ten months they found Acrodysostosis Type 2 on one of Maddie’s DNA. The doctors said it was not present in me or my husband, so they explained Maddie’s DNA must have spontaneously mutated after conception which caused her to have Acrodysostosis.


Maddie started early intervention with many therapists to help her work through her delays and teach her developmental milestones such as crawling, walking, playing and being more physically independent. Maddie also needed speech therapy and behaviour support.


Maddie has low intelligence but she’s learned so many things that surprised us, such as her ability to read. She has trouble with skills to independently help herself getting dressed and accessing things herself, but she’s always getting there at some point.


Maddie has sensory issues and flaps and claps her hands, as she is sensitive to touch. She has trouble with verbal and written instruction because of the differences of her hands, fingers, and mouth. Her verbal expression has improved, and she knows a lot more than she can say. She does well with visual prompts.


Maddie playing at the park

Maddie’s endocrine is okay, but she has been putting on a lot of weight, mostly because of her poor diet from the sensory issues. She has always had a distended stomach which can sometimes look bloated. She also has weaker muscle tone, and has a variety of medical needs including three sets of ear tubes, a tonsillectomy, urinary infections and bladder reflux, sick often from birth to age five, lactose issues, and advanced bone age.


Maddie absolutely loves music! Music has motivated her to get up and move, learn to stand and walk, talk and sing. It calms her fears and behaviours. She is the happiest person when she hears music, or if someone sings to her.


Maddie hanging out, wearing a top that describes her very well!

She also loves dancing and swimming, and sometimes she likes art. Maddie is good at learning new words to read and does some basic math skills.


She attends a great and local special needs camp in the summer. Her favourite part about camp is swimming. She loves to play with other kids at school and they love helping her. She goes to public school and is entering 2nd grade this year.


Maddie impresses us every day with all the new things she learns. She is a very happy and sweet child that everyone loves and enjoys being with.

©2018 by Acrodysostosis Support and Research  Charity Registration 1182818