Autosomal recessive condition case

Cystic Fibrosis

Addyson Kelley was diagnosed when she was 6 weeks old. Having this condition made her life more
complicated because it can intefere with her daily life. She always keep herself in check whenever she
goes out whether she needs extra medication or not. Therefore, maintaining the stability of her health is
a vital part of her life. It affects majority of her organs. Mainly the lungs, where thick mucus builds up
making it harder to clear out than a normal person’s. Her pancreas doesn’t produce the right enzymes
needed for digestion

Nuffield Health. (2016, December 19). Beth's Cystic Fibrosis Story | Nuffield Health. YouTube. Retrieved
from

https://youtu.be/eWaIsAh9eWk

Autosomal dominant condition case

Achondroplasia

Chandler Crews is a young adult with achondroplasia. Having this condition makes her limbs shorter
than a normal person while having a normal sized torso. It affects the endochondral bones that fails to
convert the cartilage normally into bone especially longer bones hence making them shorter and
disproportionate. Growing up she went through 12 sets of ear tubes to help with the hearing issues. She
also have spinal stenosis which happens when the space inside the backbone is too small causing severe
pain that affects their mobility.

CheckRare. (2021, March 30). What Is Achondroplasia: A Patient's Perspective. YouTube. Retrieved from

https://youtu.be/Z0F1rbFt9Fo