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Max V.

Happy is as happy does.

When you’re a parent, you notice things about your child that others might not. Maybe it’s a new freckle, new word, new facial expression. Maybe it’s something bigger. When so much of a baby’s development is tied to milestones - sitting up, crawling, walking - it can cause you to scrutinize every new movement…or lack thereof.

Natali and Santiago already had a toddler son named Mateo when their second child, Maximiliano, was born. They were used to watching for those telltale signs of growth. So when Natali noticed around the 8-month mark that Max’s gross motor skills seemed to be delayed, she started watching him even more closely.

Max wasn't reaching for toys, sitting up, or doing some of the other things Mateo had done at similar ages. It didn’t take her long to schedule an appointment with his pediatrician, Dr. Coverston.

“Our doctor is amazing,” Natali explained. “He has a lot of experience and works with many special needs kids, and he agreed that Max seemed to be behind. He took my concerns seriously and advocated for more testing to figure out what was going on.”

First up was a brain MRI that, thankfully, came back normal. Next, they were referred to a geneticist, and both Natali and Santiago were also tested.

“We had an online portal where the test results were uploaded, and the report came back on July 7, 2022, the day before our scheduled appointment with genetics,” said Natali. “So I did what you’re told not to do and googled what I saw in the report to figure out what it meant.”

The report mentioned a condition called Pitt-Hopkins syndrome, a rare genetic neurological disorder that causes developmental delays, distinctive facial features, and often breathing problems like rapid breathing and breath-holding. 

“Once I read the characteristics, it was like a light bulb went off,” Natali told us. “It just checked every box and sounded exactly like our Max.”

As he’s grown, his personality has shown more and more. Max is almost two years old now, and he loves Baby Shark, any toy that lights up, and swimming - though he’s so exuberant in the water that he wears himself out after about 15 minutes. 

Like most little brothers, Max wants to be just like Mateo, and the two are really close. Max is Mateo’s shadow, through and through.

He’s also incredibly happy, and that joyful demeanor is another common occurrence in individuals with Pitt-Hopkins. If Max is grumpy, Natali and Santiago pay close attention because it likely means he’s hurting. Otherwise, you’ll most often see him with a giant smile on his face, like this one:

He’s also incredibly tough, and that’s saying a lot because he takes on more than most of us can handle. Currently, Max is unable to sit unassisted, stand, crawl, or walk. As part of his diagnosis, he has low muscle tone, severe near-sidedness, behavioral issues (anxiety, self-injury), breathing issues, digestive issues, and severe acid reflux. 

“Although many with Pitt-Hopkins are unable to ever walk or speak, we’re hopeful with speech, occupational, and physical therapy, Max will beat the odds,” said Natali.

With that optimism and happy personality, we have no doubt.

After the Covid pandemic began, there was a lapse in therapy opportunities for Max, but in the last few months, he’s been able to participate in physical, occupational, and vision therapy, which has been hugely beneficial. 

One of his biggest goals is to work on taking isolated steps with no hopping. He uses a kids' gait walker once each week in physical therapy, but when Natali and Santiago saw how much progress he was making with the device, they started wondering if they might be able to get one for their home and to help Max reach his goals even sooner.

“We’ve already added more therapy and specialists to his team in an effort to help Max achieve his milestones,” Natali explained, “But, of course, with more exams, treatments, and therapies come financial hardship.”

Not one to let something like that derail her, Natali started searching the National Organization for Rare Disorders (NORD) website for resources that might benefit Max. When he had first been diagnosed, Natali and Santiago connected with other Pitt-Hopkins families through Facebook and had become familiar with many individuals facing similar circumstances. 

So when she saw the Chive Charities website link on NORD and clicked on it, she was thrilled to recognize another Pitt-Hopkins child our organization supported in the past: Elijah D.

“Seeing him really struck me and encouraged me to reach out and see if we might be able to get some help with his gait walker,” said Natali.

The goal is to help him continue to develop his skills, but it goes beyond just walking. The benefits of these mobility devices are bigger than you might imagine and key to helping kids develop cognitive, language, and motor skills, learn spatial relationships, and explore the world through hands-free, self-initiated movement. 

It’s freedom and independence. And it’s everything Max deserves. Plus, he needs to be able to stay right by Mateo’s side – his favorite place to be.

After we met Max, keeping a smile on his face became one of our primary goals, too. You helped make that possible by funding the cost of his very own KidWalk Gait Mobility System for a total of $3,760.

It’s hard to put a price on happiness, though, and that’s what donors like you brought to this family. 

“Thank you to every single donor,” Natali said. “Because of your kindness and generosity, you are changing lives every day. I wish we could show how deeply thankful we are for such a beautiful gift that we were rewarded. We can now work every day with Max to help him achieve a huge milestone – walking! We will forever be grateful; thank you once again from the bottom of our hearts.”

Walking is the goal, but donors like you are giving him a chance for so much more. And we bet whatever comes his way, Max will continue approaching every challenge the way he always has: with a huge smile on his face and with his big brother at his side. Nothing would make us happier.

Help us bring more smiles to more kids just like Max. Every donation, whether $5 or $50, will directly fund another family with a medically-related need. We can’t do it without you! DONATE HERE.

Max V.'s Updates

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