BROOKLYN, MI– New parents Chelsea and Brian Meschke immediately sought answers when their infant son wasn’t eating.
After about two months of tests, they got an answer no parent wants to get. Their then 8-month-old son Jaxon had a rare genetic, metabolic disease with no known cure.
Jaxon, who’s now 3 years old, has cystinosis, which causes an amino acid to accumulate in organs, and, without treatment, can cause organ failure, Chelsea said.
“The simplistic way to put it is that in our bodies, we have an amino acid called cystine,” Chelsea said. “And with cystinosis, what happens is that amino acid does not get kicked out of the body like it should.”
It was a tough diagnosis to hear, said the Meschkes, who live in Brooklyn.
“At first you’re just shocked, like whoa, this is my little kid (and) everything’s supposed to be great,” Brian said. “And then you hear some of these kids don’t make it into their 20s. And so, you think you have this idea of what life is supposed to be like for your kid.
“I would imagine, before we got the diagnosis, the parents go and the kids live on and we had to kind of face that might not be the case early on, and that’s scary.”
That reality could change, though, as doctors learn more about the disease that affects about 500 to 600 people in the U.S., according to Cystinosis United.
Jaxon is as rambunctious, sassy and energetic as other children his age, his parents said, adding he has minimal side effects in comparison to other children with cystinosis.
“It took us a while, but we found kind of what our normal is and that’s all we know,” Chelsea said. “That’s all we’ve known as parents and that’s all Jaxon has known in his life.”
“Normal” for Jaxon is about 20 pills per day and a structured amount of fluids. The medications help Jaxon remove cystine build up, but the fluids and several pills often cause vomiting. He also deals with light sensitivity due to amino acid build up in his eyes, so he uses eye drops and sunglasses.
Despite the diagnosis, catching the disease early has allowed Jaxon to live a full, near-normal life, Chelsea said. In the long-term, Jaxon will likely be smaller in stature and have digestive issues, but right now, his disease doesn’t slow him down, Brian said.
Throughout the pandemic, the Meschkes said they have tried to stay as safe as possible. Even getting the common cold is a likely hospital visit for Jaxon as he is continually in stage one kidney failure, Brian said.
“If he can’t keep fluids down, we can’t balance how his electrolytes (are),” Brian said.
Brian and Chelsea were both vaccinated against COVID-19 as soon as possible and they avoid taking Jaxon to grocery stores or other public spaces, they said.
The Meschkes hope the pandemic lightens up so Jaxon can socialize with other children. He currently goes to day care, but they hope it gets safer for Jaxon to do more activities.
Looking ahead, the Meschkes have hope. Research and better medications are in the process for people with cystinosis, Chelsea said.
As Jaxon nears the age of going to school, Brian, a sixth-grade teacher at Columbia Upper Elementary, said he hopes people recognize there is a person behind the diagnosis.
“He’s not going to be like other kids at certain times, but there’s still a kid there that has value and can bring things,” Brian said. “And that there just needs to be understanding for people that are different, for kids that are different.
“And with cystinosis, there’s just a lot to be learned and understand and people (who) are just willing to listen are a really good thing. We hope for him that he gets a lot of that.”
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