When it comes to rare and chronic conditions, awareness is important.
Oftentimes, disease-specific information remains within the community; many others are informed about the impact of these conditions. Awareness not only spreads education, but garners support.
The Salisbury Post recently shared that West Rowan Elementary School in Cleveland, North Carolina recently hosted a Dwarfism Awareness Day to support one of its students, who has achondroplasia. Although achondroplasia is rare, it is considered the most common form of disproportionate short stature or short-limbed dwarfism.
Throughout the day, Abel Greene and his family presented on what dwarfism was and how it affected their lives. The day also consisted of learning about race cars – since Greene’s cousin, who works as crew for racing, joined in to raise awareness! Other students gained valuable understanding about this condition—and even the smallest bit of awareness can beget change elsewhere.
Learning about Achondroplasia
Achondroplasia is a form of skeletal dysplasia in which bone growth becomes abnormal. Normally, the FGFR3 gene helps to produce a protein that aids in bone growth and maintenance. When mutations happen in this gene, the protein becomes overactive. Mutations often occur spontaneously and lead to the ossification of cartilage, which means that the cartilage becomes stiff and boney. This causes those with achondroplasia to have a normal-sized torso, but short limbs and a short height. Typically, the average height for people with achondroplasia ranges from 4 feet 1 inch to 4 feet 4 inches, with a split based on biological sex. While this condition has a number of symptoms, it does not typically lead to cognitive or mental impairment. Symptoms may include:
- Macrocephaly (an abnormally large head size compared to the rest of the body)
- Bowed legs
- Chronic ear infections
- A prominent forehead and flat nasal bridge
- Sleep apnea
- Hypotonia (low muscle tone)
- Prominent abdomen and buttocks due to an inward spine curve
- Cranial or spinal stenosis
- Difficulty bending the elbows
Treatment usually just refers to symptom management, such as improving stenosis with surgery or using ear tubes to address middle ear dysfunction.