When she was born, Savannha Aretino was diagnosed with hypophosphatasia, a rare genetic disorder characterized by bone and teeth development abnormalities. Now, twenty-three years later, Savannha is working to not only raise awareness around the condition but inspire others to live fully.
According to The Suncoast News, Savannha recently graduated with her Associate’s degree from Pasco-Hernando State College (PHSC). Her next step? Pursuing a Bachelor’s degree in English from the University of Central Florida. As a teacher, Savannha hopes to visit other countries and build her cultural awareness. More recently, Savannha has been doing this through her Japanese and American Sign Language (ASL) studies. However, she one day hopes to travel and see all that the world holds.
Savannha’s journey to reach this point has not always been easy. After her diagnosis, she underwent experimental therapies. While this treatment was relatively helpful, Savannha still has times where she may, unwittingly, fracture or break some of her brittle bones.
However, she wants to make one thing clear: just because she has a rare condition, which may limit her, it does not stop her from achieving her goals. In fact, that’s the very discourse she wants to bring to the wider discussion: that differences or disabilities should not inhibit someone’s ability to live a full, happy life.
Whether she is reading her favorite books, crocheting, or pursuing a career as a substitute teacher to inspire kids, Savannha lives happily with hypophosphatasia — and hopes others can do the same.
What is Hypophosphatasia (HPP)?
ALPL gene mutations cause hypophosphatasia, which causes bones and teeth to develop abnormally. Because there are multiple hypophosphatasia subtypes, including adult, childhood, perinatal, and pseudohypophosphatasia, to name a few, the mutations may be inherited in an autosomal dominant or autosomal recessive pattern. In each case, the gene mutations prevent the mineralization or calcification of bones and teeth. Normally, during this process, bones and teeth retain minerals, like calcium or phosphorus, to remain strong and hard. Without proper mineralization, those with HPP often have soft, fracture-prone bones and soft teeth, which may cause tooth loss. Other symptoms include:
- Skeletal abnormalities
- Anemia (low red blood cell count)
- Bowed long bones
- Recurrent vomiting and kidney problems (in infants)
- Early loss of baby teeth
- Large fontanelles (in infants)
- Failure to thrive
- Hypercalcemia (high calcium level in the blood)
- A narrow chest
- Low muscle tone
- Frequent or recurrent fractures