Lilibeth’s family

I introduce you Lilibeth’s family (on the right in the photo) which I had the honor to meet in San José, Costa Rica.

Lilibeth has a very rare disease that I had never heard of.
Acanthocytosis Chorea is a neurodegenerative, hereditary genetic disease that has similarities with Huntington’s.It is estimated that there are a thousand people with this pathology worldwide. The symptoms are very intense, choreic movements, dystonia, swallowing disorders, difficulty in walking.

Epilepsy occurs in half of individuals and may be the first manifestation. Most cases begin around age 35 but can occur between ages 10 and 70.

Lilibeth unfortunately declared this sad illness 7 years ago. She is still able to communicate and understand although she has a lot of difficulty.

She is a very brave and strong woman, she fights this terrible disease every day, sitting on a sofa, constantly gesticulating, her body is uncontrollable.

For her family, it was a huge shock. They had difficulty identifying this disease because it is very rare and there were no known cases in the family. Doctors took years to diagnose acanthocytosis chorea.

Besides that, Lilibeth doesn’t really have any treatment and she doesn’t have any follow-up adapted to her illness. Indeed, most of the health professionals she has met do not really know what to do.

Fortunately, Lili is a very strong woman, and she is well surrounded with her family who takes care of her.

It was very touching to meet this family and I have a lot of respect and admiration for these people. We share common experiences and we understand each other.

Facing these rare diseases, we tend to feel completely alone, isolated and helpless. And it’s amazing to meet people who understand us.

Thanks to you Lilibeth for inspiring me and thanks to the whole family for their welcome, you are wonderful people. You are now in my heart and thoughts forever, take care