Diego Matias is a Zulian kid who was born in Maracaibo, Zulia State Venezuela, 7 years ago. Since he was born, he’s battled hard to survive many health problems that have afflicted him consistently. He lives with his mom and he was diagnosed with a syndrome, a rare syndrome called childhood Alzheimer’s, also known as Niemann-Pick disease type C. Her mother broke down when she knew Diego had the disease.

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It is very hard to believe that kids can also be caught up by Alzheimer. Childhood Alzheimer’s  is the same as the ordinary syndrome that affects the aged but with a difference: Kids are the target.

Understanding what Niemann-Pick disease type C is

Briefly, the disease is comprised of other health problems linked to the nervous system and it’s categorized as a lysosomal disease. The syndrome doesn’t permit the child to have a normal life by depriving him of the skills normally developed while growing. The disease is degenerative and there’s still no cure for it. The kid loses the ability to speak, walk, control urination, think of actions, recognize danger situations and control certain behaviors. Also the body is not capable of processing the carbohydrates; instead, the body wastes are stored in the organs causing neurological and muscular damage.

His mom’s narration

During the interview, his mon Mrs. Alney Márquez explained that Diego was put in the baby incubator after a normal labor.

Diego seemed to be born healthy, because he was put in the incubator and apparently nothing wrong was happening to him. Minutes later, he was no longer where he had been put, and I was told by the doctors he had been moved to ICU as he was having respiratory problems” – Mrs. Alney said.

Following these events, the time went by and the kid was abnormally growing. He had speaking problems, his behavior was not of a regular boy, instead, he appeared to suffer from hyperactivity, and he fell down too many times a day. His mom Alney Marquez looked for a response to the problem, she wanted to clear up doubts regarding Diego’s health.

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She then started to consult various local doctors and specialists who unfortunately couldn’t provide Mrs. Márquez with the right diagnostic. After some months, Mrs. Márquez made up her mind to go to Brazil as one of the local specialists had given a clue that the child was probably facing Niemann-Pick disease type C, an incurable syndrome that only attacks children leading them to go through the same ailments and aches of a 70 year-old Alzheimer patient.

“I began to research about what was happening with my son. I had been told Diego was likely suffering from Childhood Alzheimer’s, which called my attention and led me to start googling. After I had learned a little about the syndrome, I went to Brazil with Diego Matías to get the right diagnostic. And what I feared most happened; Diego had Niemann-Pick disease type C. I just fell apart” – Mrs Marquez expressed.

Today, Diego is unable to say ‘mom’, he can’t control urination sometimes, he often has a hard time getting to sleep at night, and he occasionally goes into uncontrollable mental crises.

What awaits Diego Matias

So far, Mrs. Marquez is looking for help to extend Diego’s life. She often dreams of her taking Diego to a soccer school, she dreams of Diego being free of that terrible syndrome. She has been pleading for medical assistance overseas, specifically in an American healthcare center based in Ohio from which she’s still been waiting for a response regarding a gene therapy.

 

 

 

 

 

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