‘This is the first time I’ve seen something like this.’ We were starting to lose hope. What was going on with our baby?’: Couple advocates for son’s rare diagnosis, Cutis Laxa Type 3, ‘He’s a warrior’

“Baby Nathan was born full-term October 2018, weighing just two pounds, but before he was born, doctors had already begun to notice he was small. They had my wife, Pamela, visit a specialist at the end of her second trimester. That’s when it was confirmed Nathan was not growing normally. ‘I prepared myself for him being small. I prepared myself for the dwarfism, for whatever came my way,’ said Pamela.

He wasn’t premature, so Nathan’s size confused physicians. He was in the NICU for observation for 2 months, during this time genetic testing and every other test failed to offer answers. Nathan needed to gain weight in order to be discharged. In the following weeks, he gained three pounds. Then, topping five pounds, Nathan was finally ready to be discharged, until the seizures started.

Nathan had to be rushed to Valley Children’s Hospital in Madera. All tests failed there as well. At this time, my wife and I were really starting to lose hope. We weren’t getting any answers as to what was going on with our baby. All we saw were tubes, PICC lines, and NG tubes. The best word to describe all of this was a nightmare. As parents, we began to question ourselves. We gave in to fear and anxiety. Did we do something wrong? Was this all our fault? Will our baby survive? We had so many questions.

The chief geneticist came to us with sad news. In her long time in genetics, this was the first time she had seen something like this. She told us about a state-funded program called Project Baby Bear. They conducted a new form of testing called Whole Genome Sequencing. Thanks to that test, we received a diagnosis called Cutis Laxa Type 3 from a denovo mutation called ALDH18A1, non-inherited. The symptoms are growth deficiencies, moderate to severe intellectual disability, loose joints and skin, cataracts, corneal abnormalities, malrotation, seizures, involuntary muscle contractions that force the body in abnormal, sometimes painful movements and positions, trouble eating, hernias, cyclic vomiting, and severe acid reflux.

We are extremely grateful to have a diagnosis but we are now facing a disease that has no cure or treatments. We were discharged from the hospital in March of 2019. Since then, we have focused on raising awareness, reaching out to as many people as we can — not only to raise awareness but to find other people with this disease. So far, there are only three other people in the world with this diagnosis.

Now, we are close to his second birthday and have learned so much about acceptance and perseverance, Regardless of this situation, we remain positive. We believe everything happens for a reason. Nathan has inspired thousands of people so far. Although it might be a difficult situation, we have to follow baby Nathan’s example of never giving up. He is a warrior, destined for greatness. How you define greatness is completely up to you.

There’s a word in our family we always use: Auspicious. It means conducive to success, favorable. We like to remind everyone we are all auspicious. We like to focus on the journey, not the destination. Worrying about the future only brings anxiety so we will continue this path together. As long as Nathan doesn’t give up, neither will we. Stray strong! We hope our story can inspire you. You’re not alone. We’re in this together. Remember, you ARE Auspicious!!”

This story was submitted to Love What Matters by Armando and Pamela from Bakersfield, CA. You can follow their journey on Instagram. Do you have a similar experience? We’d like to hear your important journey. Submit your own story here. Be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.