James is a one-year-old little boy who was born with an ultra-rare genetic disorder of the CNTNAP1 gene, which affects his brain’s ability to communicate with his muscles. There are less than 20 people in the world that have been diagnosed with this disorder.
We invite you to read more about their story and support James through a purchase from our shop where every purchase will help buy a specialty chair for James and pay down medical bills not covered by insurance! You can also subscribe to our podcast and hear our interview with James’ parents releasing April 16th.
“This little boy has taught me so much, he has taught me what unconditional love looks like, he has taught me what fighting looks like, he has shown me what strength looks like, he has taught me a ton in the short year that he has been here.”
James lives in Ladera Ranch, CA with his mother, Lindsey and father, Kyle. His favorite things are being kissed by his dad’s scruffy beard, seeing his mom smile, being lifted up in the air, and hearing funny noises. He is a happy little boy who loves to spend his days surrounded by his family.
James’ journey began one year ago shortly after he was born. Lindsey had a healthy pregnancy with James. He passed all of the typical testing that is done during pregnancy, his ultrasounds looked great, his measurements were normal, and he was growing at a great rate. There was no clue that anything could be wrong until the day he was born. Lindsey describes the day that James was born as traumatizing and one of the worst nights of her life. She says, “How do you go from this is the best day of my life to literally within seconds it is taken from you?”
The moment after James was born and placed on Lindsey’s stomach he was immediately removed. He was unable to breathe. Alarms were going off and nurses began to yell and just like that, James was whisked away and immediately intubated. Lindsey hadn’t even seen his face yet. Her husband rushed to the NICU with the baby. “As a mom you see your baby being taken away from you and your husband says ‘What do I do?’ And what do you do as a mom? You say go be with the baby. That was the first moment I learned what it is to be a mom and not to put my needs first”, Lindsey shares.
Lindsey’s doctor was able to have her discharged early; she recovered from labor and delivery next to James’ side at the children’s hospital where he was transferred. There began the journey to figure out what exactly they were dealing with. They spent four weeks in the children’s hospital, never leaving James’ side. While in the hospital they learned that James has bilateral vocal chord paralysis, hypotonia, and was unable to suck or swallow, so he received his tracheostomy and gastronomy surgeries to help him breathe and eat. They were discharged from the hospital and able to head home, but they still did not have an answer as to what was causing all of the issues James was experiencing.
Two weeks after being discharged, and six weeks after James was born, they received a call from their geneticist – they had finally figured out what was going on. They were told James had an extremely rare mutation of the CNTNAP1 gene. This mutation causes James’ brain to have a hard time communicating with his muscles. Summed up by his dad, Kyle, “So, you have the nerves that transmit signals from your brain to your muscles. His brain sends out the signals, but the way it basically communicates to the muscle is it loses the communication and loses the signal.” Lindsey and Kyle happen to be recessive carriers of this gene. It is not in either one of their families and they had no clue about it. There is also currently no genetic testing that is available to test for this due to how rare it is.
According to the research that has been done about this disorder, the average lifespan is supposed to be seven months, but James has already outlived that – as well as several other children that Lindsey has spoken to who also have this same genetic mutation disorder. The oldest child with this disorder that Lindsey has seen through her research is 12 years old. As Lindsey says, “Are we going to read up on the literature and see what they have to say about it and kind of let that decide our path? Or are we going to trust in God and see what he wants us to do and follow our hearts and let our boy shine?” It is clear that they have decided to follow their hearts and let their boy shine – and shine he does!
James has already defied odds that have been stacked against him. After he was intubated he pulled out his tube three times. This was being done by a boy who was not supposed to be able to purposely move well. Lindsey shares, “That was his personality from the very beginning. I’m a fighter I’m going to fight this and I’m going to show you how strong I am.”
James already has a beautiful, albeit ornery way of communicating with his parents. If he wants his parents attention he will move his left arm and sometimes he will hold his breath so his alarm goes off and they will come over and focus on him. When he was first born he could not hold onto his pacifier and it would just fall out of his mouth, but he now knows how to hold onto it and if he does not want his pacifier he will simply purse his lips or hit their hand away. All of these moments are defying the odds – moments that, according to research, are not supposed to be happening. As Lindsey says, “It’s just so important to celebrate the little things and to recognize those little things as well. I feel like it’s really easy to get lost in the big picture and it’s so important, especially with people like James.”
Since James’ disorder is so extremely rare, the future is unknown for him. Lindsey and Kyle are hoping to raise money for research that will ultimately find a cure to save James’ life. For now, Lindsey and Kyle are trying to live in the moment and enjoy each and every day with James. They’re focusing on taking it day by day and conquering daily tasks together. Right now their focus is on building strength for James in his neck, which is really important for him for a wheelchair in the future, or a stander, or just even sitting in a car seat.
What gets them through the hard moments? What gets them through the unknown of the future? To simply put it, love. Love for their James. Kyle shares, “I always tell people, because they see you in a situation with your child and the natural reaction for people is to say, ‘Oh I don’t think I could do that. I don’t think I could ever do that.’ And the true answer is you probably could because no one thinks you could do it, but you do it. Because you love them.”
Throughout the month of April we will be shouting love for James and four other kiddos with their own special and unique stories. It is a great honor to tell James’ story and to share his story with our shouters. We hope you will join us in getting to know these four incredible families.
Time to get loud shouters!
You can also follow along with the family’s journey on their Facebook page here.