Friedreich’s Ataxia Patient Uses YouTube to Share Her Experiences

Many times, diseases can take very physical tolls on a person’s body. These physical symptoms can sometimes be uncomfortable, they can be painful, and sometimes they may even be embarrassing or humiliating. But one Youtuber wants everyone to know that although a person cannot control the physical symptoms a disease may inflict on the physical body, a sense of humor and delight in the world can still be maintained.

Aidan Oliver DiMartino decided to be very transparent and display the physical symptoms of her genetic condition- a degenerative disease called Friedreich’s ataxia that she was diagnosed with at 15 years old. At the time of the video in 2014, DiMartino was 28 years old and was married with two children. Watch DiMartino’s video and keep up with her channel here.
Friedreich’s ataxia is an autosomal recessive inherited disease that causes progressive damage to the nervous system. The initial symptoms include poor coordination such as gait disturbance. The disease can also lead to scoliosis, heart disease, and diabetes, but does not affect cognitive function.

DiMartino has been wheelchair bound since the age of 21. In the video, she films with her husband and shows many of the visible and physical symptoms of her disease. The main thing that stood out was not the debilitating effects of the disease but her great sense of humor and positive smiles and laughter throughout the video.

She talks for the camera and shows how her speech is slurred. Her speech has gradually gotten worse and her tongue feels thick and slow and she has trouble pronouncing syllables. She even chuckles good-naturedly as she says that sometimes if she tries to project her voice in a crowd she drools.

DiMartino also has frequent mouth ulcers and minor acid reflux. Her vision has been affected as well, and she has eyes that shake and make it hard to focus. She also has poor depth perception. Her vision is 20/40.

She also has scoliosis which creates a 20 degree curvature of her spine and causes her to lean forward and sometimes to the left. Because of this, her neck is frequently sore and aches.

DiMartino has poor core strength and cannot sit up without assistance or without falling over. Additionally, she cannot stand up without assistance from her husband and she continually laughs in genuine amusement as her husband helps her stand up for the camera. Her husband picks her up and she laughs as he dances her around their living room floor and eventually assists her in getting back into her wheelchair.
The physical symptoms of Friedreich’s ataxia are a long list and they are apparent as DiMartino continues to show her lack of coordination, lack of finger strength, poor circulation in her legs and feet, and how she manages to open doors and use the toilet. However, the more apparent part of DiMartino’s video is her great smile, her beautiful laugh, and her contagious sense of humor and positivity as she talks.

DiMartino has now began her full treatment to cure this “incurable neuromuscular disease” and she regularly posts pictures and videos of her family on her YouTube page.

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