March 1, 2019
The health of a baby born in Bakersfield, California has been called a "medical mystery" by local news outlets for the past few months. Little baby Nathan was born to Pamela Aguirre and Armando Martinez back on October 6, and at the time of his birth, he weighed just 2 pounds, 15 ounces. Because he wasn't premature, physicians were confused by his size and were searching for answers. But in the meantime, Nathan had to gain weight in order to be discharged. He made it over 5 pounds but soon began having seizures.
"It's the point where he cries so much that it is so painful that he actually stops breathing for 15 seconds," Martinez told local news outlet KGET in January. "He turns gray, and his veins pop out. It's horrible to see."
Thankfully, after being transferred to Valley Children's Hospital in Madera, DNA tests began to offer clues that could lead to a diagnosis. "When we first arrived at Valley Children’s Hospital, geneticists could not figure out what was wrong with Nathan," Martinez tells Parents.com. "Thanks to genetic testing that was done at a lab in San Diego, they were able to find a gene ALDH18A1, which is related to Cutis Laxa Type 3. They drew blood from all three of us and determined that our genes did not carry this disease. This was created by his own genes. Therefore, this could’ve happened to anyone. The chance of it happening again are 1%."
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Good morning everyone 🙏🏼🙏🏼 Life is full of so much uncertainty but we are not scared. We are scared of the dark. We will continue to walk forward with confidence. This is all part of a plan, a huge teaching for everyone. Nathan will continue to teach us love, compassion and gratitude. Thank you to everyone who has decided to be a part of Nathan’s life. The ones that are doing everything they can to help him. Have a wonderful day 💯 ▃▃▃▃▃▃▃▃▃▃▃▃▃▃▃▃▃ #helpbabynathan #niculife #nicujourney #nicu #nicumom #nicudad #nicuparents #nicubaby #nicuwarrior #valleychildrenshospital #livingwithalittleextra #extrachromosome #gofundme #funding #helpneeded #family #CareAboutRare #onemillionactsofgood
Cutis Laxa Type 3 affects connective tissue and is characterized by skin that is loose (lax), wrinkled, sagging, redundant, and lacking elasticity (inelastic). According to the National Organization of Rare Diseases (NORD), the disorder has been reported in approximately 400 families worldwide.
For now, the family is hoping that physicians can manage Nathan's symptoms as they search for more answers for his long-term care.
"Unfortunately, there is no cure for this condition, and there isn’t a treatment," Martinez explains. "Nathan has several symptoms like seizures, loose skin, a malrotation [an abnormality in which the intestine does not form in the correct way in the abdomen], cataracts, small limbs, and reflux. All they can do is control his symptoms."
The proud father shared one of the most trying moments of the past several months. After Nathan went through a five-hour operation for his malrotation, hernia, and a G-tube procedure, Martinez says his son came back with a fever and completely out of it. "Nathan stopped breathing turned blue and was completely stiff," Martinez recalls. "My wife was crying, and she ran out of the room. The nurses were able to get him to breathe. I walked outside, and I took [my wife] down to the chapel. We sat down together and prayed. As we walked back to Nathan’s room, I told her, 'As long as Nathan doesn’t give up, we won’t either.' That was the hardest night we faced, but we were able to smile at the end of the night. We carry ourselves with a positive attitude and often laugh."
Aguirre and Martinez, who are also parents of a 10-year-old boy who has autism, say they're still wrapping their heads around the situation but do have words of wisdom for parents of babies who may be facing a similar health challenge.
"You have to keep your head held high always," Martinez shares. "You have to have faith in your child. As long as they don’t give up, you shouldn’t either. You have to maintain a positive attitude and remain calm. Realize that this isn’t your fault. As difficult as it might be, you have to stay strong and love your child no matter the outcome. Reach out to as many people as you can, do your research, and remember that you are the best advocate for your child."
You can support baby Nathan's NICU expenses by donating to his family's GoFundMe. To date, donors have contributed over $29K of their $200K goal.