Living With...Menkes Disease

Hello! My name is Tarsila! I am 3 years old and I live in Brazil. I have Menkes Disease. This disease is more commonly seen in boys since it is an x-linked recessive disorder. Right now, there are only 4 reported cases of girls with Menkes Disease in the world. There is a failure of copper transport to the brain that causes progressive cerebellar atrophy (slow deterioration of the brain) and severe hypotonia (low muscle tone).

Treatment for Menkes Disease includes injections of copper supplements can help improve clinical outcomes. Before Tarsila began receiving treatments, she was described as "listless, disinterested, and in chronic low level pain, with progressive brain atrophy". Now that she is receiving the treatment, her family and team members describe her as "thriving: very interested in everything around her, using her hands to explore and play, eating well, and doing better than any of us could have reasonably predicted".

Tarsila’s family recently purchased the Special Tomato Mobile Floor Sitter Kit through Adaptivemall.com. Watch this video clip of Tarsila in her Special Tomato Mobile Floor Sitter Kit:

Tarsila now sits much more comfortably and in a better position. She is also able to tolerate sitting for longer periods of time. Her Mom is able to move her easily through the house with the Mobile Floor Base. Tarsila also enjoys spinning around in her Special Tomato Mobile Floor Sitter Kit.

Tarsila's family says her "new favorite place is on their balcony, where she has a great view of the clouds, the blowing curtains, the flowers, and a bubble machine." Tarsila also enjoys using the ipad. Due to her low muscle tone, she has a very light touch. She is not strong enough to activate most children’s toys. However, the ipad is perfect for her. Her light touch allows her to interact with many applications!

If you’d like to learn more about Menkes Disease, please click here to read about The Menkes Foundation in the USA.