​

Born: 2011 / Age: 13

Country: United States  

​

Journey to diagnosis

​

In 2011, during an otherwise healthy pregnancy, I came to our obstetrician with concerns of my small belly size for being at 36 weeks’ gestation. After an ultrasound, the doctors and nurses hurriedly sent us home to pack a bag and get to the hospital for an emergency C-section. They discovered the baby to be underweight and growing disproportionately, diverting resources to support his vital organs. We were told immediate delivery was advisable as his little body was struggling. Jack was born at 3.5 pounds, and he was whisked to the NICU where after a 12 day stay, we were able to take our tiny boy home.

 

It was apparent right away that Jack would need ongoing support and that we needed to attempt to discover the cause of his struggles. In the first year alone, Jack experienced months of extreme fussiness, problems in feeding, gastrointestinal problems, seizure-like activity, low muscle tone, and was very behind on all his milestones. He was a joyful and sweet boy when he was feeling good, but he had a lot of challenges to overcome. After several years full of frequent visits to the geneticist, neurologist, gastroenterologist, developmental pediatrician, and early intervention therapists in several disciplines, we were no closer to an answer as to the cause of Jack’s issues and could only provide supportive therapies to help him progress to his full potential.

 

At age 4, we were finally able to obtain a diagnosis of autism spectrum disorder. This helped us obtain more services to support Jack and that’s exactly what we put our energy into wholeheartedly.

 

Over the years he continued to be very small in size and have various health issues that required more trips to the specialists, but he was always happy and enthusiastic about life and adored by all. We had given up the hope of finding a root cause for any of his issues and we were ok with that. Imagine our surprise when we received an unexpected call from the geneticist at SPARK for Autism in late 2022 that they had found a gene mutation responsible for all of it.

 

Since that day, we have read and learned so much about CUL3 and have had the honor of connecting with other families and professionals in an emerging community. 

​

Reflections & hopes for the future

​

Fast forwarding to the present, Jack is a smart and witty teenager with just as much excitement in life as ever. He is a straight A student, lover of learning, reading, video games, and family, and he is immensely proud to be big brother to Henry, the world’s sweetest toddler! We have much to look forward to in life and are enjoying our days to the fullest possible extent. More health concerns have arisen in recent years and it is hard to tell if those are related to the gene mutation or not, but hopefully the more that is learned about supporting individuals with CUL3 related disorders, the better his journey will become.