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Let us Introduce you to Abigail

Realiza tu Donación para AbigailBefore turning one year old, we noticed that Abigail was very struck by the lights, (especially when it got dark or at twilight of the day if we were outdoors), to clarify doubts we asked an ophthalmologist, who She recommended a pediatric ophthalmology specialist, after visiting her she told us that although it was difficult to diagnose her (this because her behavior was that of a normal girl), everything indicated that she was nyctalopia (night blindness). After this diagnosis they told us that it was advisable to do a test called an electroretinogram with which they gave us sad news, her condition was Leber's congenital Amaurosis. (LCA) with mutations in the RPE65 gene, a rare disease that causes progressive loss of sight.

After this we started with the investigations and we realized that there was no existing cure, this was devastating, the only idea we had was to prepare ourselves for a new life condition.

At the end of 2017, the answer to our prayers had approved the treatment for the disease, in 2018 the CHOP (CHILDREN HOSPITAL OF FILADELFIA) had found a cure for the disease, we only needed the FDA (Food and Drug Administration) , publicize the product and go on sale, and at the beginning of 2018 they gave us the great news the drug had gone on sale ... for the price of a million dollars, now we had not only a rare disease but also an exorbitant price.

With a lot of effort and without losing hope we began the procedures to travel to the United States (Al CHOP, Philadelphia, Pennsylvania), and at the end of October 2019 we succeeded, we were able to travel to the Children's Hospital of Philadelphia, this so that they could value Abigail and they will give us the good news, if she is a candidate for surgery and if it is a definitive cure so that she does not lose her sight, so she can see the STARS.

Abi is a very happy girl with a strong character, she likes to talk and dance a lot. She loves the color red, unicorns and the little mermaid.

With her best friend named Isabel they go to gymnastics and have a great time, she says.

Her favorite trips are to the beach, sand, and building castles.

She has princesses as imaginary friends who play for a long time.

Thank God, Abigail has an almost normal life, she goes to maternal, she likes to play, going to the park of course she has an accident or another because she stumbles from time to time, it is difficult for her to distinguish some obstacles and even more so if it is in new places that you do not know. In the house, things are in the same position so that she is not complicated and she can walk well, and stumble as little as possible.

We are very careful with sunlight, as it must avoid direct contact with her vision, we must take care of her retina. In addition, we have put white light throughout the house so that she can see at night.

Donaciones para Abigail

Donaciones para Abigail

Donaciones para Abigail

 

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