Valorie’s son Jace was a typical infant. Around 12 months, his head measurements were falling behind, and he was diagnosed with Microcephaly. Starting at age two, Valorie began taking him to dermatologists because he had a severe sensitivity to the sun. A few years later, she discovered there was a correlation between those two symptoms. Valorie sent a skin biopsy to a specialist in England since the identifying test wasn’t available in the US. He confirmed that seven-year-old Jace had Cockayne syndrome.
Life with Cockayne Syndrome is a Constant Battle
One of the characteristics of Cockayne syndrome is it is a progressive disorder. Valorie was told Jace needed an MRI after he was diagnosed. Calcifications on the brain, a common symptom of the disorder, hadn’t been present before with Jace. Unfortunately, the new MRI scan showed calcifications in two places. “That was a punch in the gut as a parent, knowing we couldn’t fix the syndrome but asking what we could do to help him,” Valorie said.
Another big hurdle Valorie had to overcome was getting Jace a feeding tube. At seven and a half years old, Jace weighed only 35 pounds. She couldn’t get him to eat or drink. Bribes didn’t even work. “He was having a lot of issues because he was so dehydrated and malnourished,” Valorie said.
After convincing the doctors to perform the surgery, her insurance didn’t want to pay for it. That began another long process of jumping through hoops and being persistent for them to see that a feeding tube was medically necessary. Jace eventually got his feeding tube.
Relying on Personal Instincts Gets You Through Challenges
“One of the hardest parts of the syndrome is that even the doctors who are trying to help are not sure how to help, and in a lot of ways, their suggestions hurt us,” Valorie said. At the start of Jace’s journey, she always believed the doctors knew best and followed what they advised. Over time, she learned to trust herself and believe the fact that she knew her son best. “It took a lot of research and spending time with him to know what worked and what didn’t,” Valorie said.
Jace’s life was full of surgeries, therapy, and other painful circumstances. It was hard for Valorie to watch her son suffer even if the pain was necessary. This is why Valorie fought for things she believed he did and didn’t need. Since Cockayne syndrome is progressive, Jace lost his abilities over time. “Constantly watching him lose skills was difficult,” Valorie said. Jace, however, made facing those challenges easier because of his positive outlook on life.
Jace required 24-hour care which meant that Valorie’s other three boys didn’t get as much attention. Valorie did her best to be mindful of her children’s’ needs and took the time to read them stories and cuddle them each night. “But my kids have grown up thinking that I love Jace more and that’s hard for me to take,” Valorie said.
Many Joys Despite a Fatal Diagnosis
“Jace had no concept that there was anything wrong with him,” Valorie said. For example, Jace was only 4’2″ but he believed he was a strong, 6′-tall man. He had a personality that could instantly melt people because of his love for life and everyone around him.
It took Valorie about a year to learn not to fixate on the fact that Cockayne syndrome is a fatal diagnosis and make memories instead. “Looking back, now that Jace is gone, the things that I remember are those little five-minute things where we stopped and picked sunflowers and silly things,” Valorie said. Being mindful of taking five minutes to make a memory made the journey a little bit easier.
Words of Advice: Learn to be Their Advocate
There are two organizations that provided many resources for Valorie when she needed them. Share and Care Cockayne Syndrome Network which is located in the US and Amy and Friends which is run by Valorie’s friend in England. When you contact either organization, they will get you linked up with other parents. Getting their advice will be the most beneficial thing you can do.
One of the best things Valorie did for Jace was being a strong advocate for what he needed. “My son received excellent care in so many ways by not leaving it up to insurance companies or even the doctors,” Valorie said. The care your child receives is not up to them, it’s up to you as their parent.