Or Martina (and her family) :

1. What is your name?

Martina Fernández Bustamante

2. How old are you?

I was born on the 15st of April, 2016, so I’m 9 years old by now.

3. Where are you from and where are you currently living?

I’m from A Coruña, in Galicia, a region in the north of Spain; it’s still where I’m currently living.

4. When your first symptoms started? And how much they progressed?

The first symptoms in the first year of life, but presumably they were there already since the birth. The progression has been quite slow, almost imperceptible, but the difficulties have been there always. Movement disorder, including both fine and gross movement skills, difficulties in the speech and an bilateral optic atrophy. Since Dec 2023 I suffer of epilepsy crisis, but controlled with medication.

5. When were you diagnosed with VPS13D gene defect?

The first genetic report where a VPS13D gene mutation was detected dated from 2023.

6. Tells us something about your current activities in life (job, education, something else)?

I’m currently a student of the 3º grade of the Primary School, since I had to repeat the 2º course last year. I practice a lot of sports, like taekwondo, basketball, swimming, and bicycle.

7. How you fight with symptoms?

I do therapy daily, including physiotherapy and speech therapy, as well as a few visual therapy. Practicing sports is also a very important way of fighting against the symptoms. A healthy diet, full of natural and organic food and avoid, as much as possible, processed food, is also key.

8. What you would recommend for new VPS13D patients?

Early intervention is crucial, mainly focused on physiotherapy and speech therapy. Sport practicing and healthy like style as well.

In terms of emotional support and long-term goals, I believe trying to join efforts in order to build a bigger collective is something that could help us and future or potential cases.

Trying to understand better the genetic background of the VPS13D mutations and its relationship with the movement disorder could help to have a better communication with the medical community.

We also need to reach connections with the scientific community, trying to encourage investigation projects on this gen in particular and the movement disorder in general.

9. Do you have any MOTO in life which inspire you? A life goal you want to achieve?

Try to enjoy the present while working for a better future.

10. Would be great to see a photo of you … .

11. Do you have anything else you would like to share?

Nothing else, I guess.