In honor of Rare Disease Day, we honor four-year-old Matty, who lives without the middle part of his brain

In honor of Rare Disease Day, we honor four-year-old Matty, who lives without the middle part of his brain. Mathius, also known as Matty, is a Coachella boy with a rare genetic disorder since birth. It is called Agenesis of the corpus callosum. Matty is intellectually disabled. His mother, Kassie Ortiz, found out her son was missing the middle part of his brain. She thought her son was delayed, but a doctor told her she needed to see a geneticist.

News Channel 3: What advice would you give a parent that finds out this type of information about their newborn or their child?

Kassie Ortiz: "Don't be afraid. And put your your fighting shoes on because it is it's a fight to really get your child the care that they need and unfortunate for us that we have to deal with that because it shouldn't be hard to you know, get the treatment and the testing but these types of situations are so rare. There's no way you know, but there, obviously there is a way just stay strong. Keep your faith and enjoy your child because even though they're you know born a little different, they're still awesome."

Matty's family aims to get to the Boston Children's Hospital. Help Matty get there using his GoFundMe Link.

While in the valley, the Ortiz family has found some success while on this journey for more solutions. "I made the decision to switch him from that doctor, because she really did not listen to me, and almost made me feel like I was crazy," says Ortiz. "I found a really amazing doctor, Dr. Ramos in Palm Desert, she pushed for us to get to Loma Linda. And that's where he was prescribed Ella care. And Loma Linda was amazing."

As of right now, we don't know what his future holds. Kassie Ortiz is matty ortiz's mother.

She says there is no official name for what her son has been diagnosed with. "It is called a variant of significant uncertainty," says Ortiz. So yeah, I when I read that I broke down. Like what like what do you mean.

The last day of February is Rare disease day. Ortiz found out about Matty's ultra rare disorder over a year ago.Shortly after, she learned that matty also was missing the middle portion of his brain.

We met up with Dr. Margie Ream from the Nationwide Children’s Hospital to describe one of matty's known disorders, Agenesis of the Corpus Callosum or ACC. "You can go through life without a corpus callosum and really do quite well and actually not know that, that was something that was affecting you," says Dr. Ream. She says one out of five thousand are born with ACC. It can occur by itself or with other genetic syndromes and disorders."But there's other things like nutrition and exposure to toxins and things that I think we're kind of just starting to understand," says Dr. Ream. 

After years of hospitals and second opinions, Ortiz decided to give Matty a normal life as possible with her three other sons. "My son's interact normally with every kid now because of Matty,".

More than 7,000 rare diseases exist, and around 30 million americans live with rare diseases. "I feel like he was put here for a reason," says Ortiz. "So I think he's going to be the one to you know, put a name and a face to whatever this ultra rare disease is."

Symptoms of Agenesis of the Corpus Callosum

• vision problems
• low muscle tone (hypotonia)
• feeding and swallowing problems
• unusual head shape and facial features
• problems with hormone levels
• seizures
• hearing problems
• delays with the development of motor and learning skills
• speech delay

Thursday, February 29th, 2024, is Rare Disease Day.

In the United States, a disease is considered “rare” if it affects fewer than 200,000 individuals.

The majority of these diseases are genetic. https://rarediseases.org/rare-disease-day/