BAKERSFIELD, Calif. (KGET) – We first introduced you to Nathan when he was three months old. His parents were searching for a diagnosis and treatment for their baby. About a month later, they finally got that diagnosis – Nathan has Cutis Laxa Type 3. The treatment this condition still has not been found.
Baby Nathan turned one on October 6. He’s home with his parents and at 15 pounds he’s come a long way from the five-pound baby we first met back in January. Still, his condition hasn’t changed much.
“He’s on medication for seizures, they’re progressively getting worse,” said Armando Martinez, Baby Nathan’s father.
In February, at four months old, Baby Nathan was diagnosed with Cutis Laxa Type 3, a rare genetic disease with a number of symptoms.
“Seizures, muscle spasms, cataracts, small limbs, loose skin, cyclic vomiting, [his] joints are fragile and they overextend,” said Martinez.
According to rarediseases.org, the disease has only been reported in 400 families worldwide.
“Because of his diagnosis, because it’s so complicated, Genetics in Valley Children’s Hospital couldn’t do anything else other than giving us a diagnosis and that’s it,” said Martinez. “There’s no follow-ups anymore because they haven’t seen this type of cutis laxa, so they have no idea how to help.”
Baby Nathan was discharged in March. Since then his parents have stopped working permanently, so they can devote all of their time to caring for him.
“It’s been a rollercoaster,” said Pamela Aguirre, Baby Nathan’s mother. “There’s a lot of things we don’t get to do anymore and that’s fine, but everything has changed. we can’t have family vacations, we don’t go grocery shopping. We no longer sleep together and we only see each other like a couple of hours every day.”
Nathan’s parents say he has at least seven seizures a day. During our shoot, Nathan seized twice. Nathan is fed through a G-Tube and has recurrent episodes of vomiting. For that reason, he can’t be left unsupervised at any time, day or night.
“We do it with love and patience,” said Martinez. “I wouldn’t have it any other way and I think that as long as we’re together, we’ll get through.”
For now, the family continues to search for answers on how to treat their baby.
“We’re looking out of state for help,” said Martinez. “Thanks to social media and me just putting his story out there, there are more people out there trying to get involved.”
Through social media, Nathan’s parents have also found others living with Cutis Laxa.
“If it wasn’t for social media, I wouldn’t have met two people that have cutis laxa type 2 and type 3,” said Martinez. “One is in Brazil, his name is Caetano and the other one is a Russian little girl who is three years old and she has Cutis Laxa Type three.”
Their goal: to find someone who knows how to treat baby Nathan.