Tell us about Arturo’s diagnosis.
He was diagnosed failure to thrive when he was young he wouldn’t gain weight at all
His was the PTLS 17,p11.2 duplication inc Rai1diagnosed at 9 months old – I don’t have the size of the duplication
Could you please describe your feelings when you received Arturo’s diagnosis?
Alone and afraid the genetic doctor I went to didn’t know what to tell me because there was to little to know about PTLS and none of my family has ever received a disability diagnosis.
What Difficulties does Arturo face?
He is still non verbal even though he has had therapy since he was a year old and he is now 11. He is barely learning how to babble he is somewhat independent but still needs alot of assistance.
What are your worries / thoughts for the future?
I lean on my faith to God and keep on having faith that he will grow up and be able to communicate with me and be independent
What kind of things does Arturo enjoy doing?
That he is happy all the time and smiles when I talk to him. He loves getting chased around and when he laughs I know he is having fun in his own way he also loves being in the water.
Why is research & a potential treatment for PTLS important to you & your family?
It is important for me because it might give me hope that he does have the future that I hope for him if there would be a treatment due to research. It’s has always been crucial for me to find how to help my son in any way even travel to another country for hope that there is something that will help him be more independent because I will not be here forever. So any treatment that will help him for a better future might be the breakthrough he needs to start talking or even gain his independence.