Kellen and I were in our own little world of toddler bliss with our 23-month-old son, Kade, and I was pregnant with our second child. We didn’t Have any cuel that it’s a boy or a girl, later it confirmed that it’s a boy we were so happy but we were overjoyed when our second son, Crue, was born in June 2017. We spend our together we help guide support each other above all we were pure to each other and enjoying every moment together and sweet in rural South Dakota. We were two parents, two young boys under two, and a new puppy, enjoying our days together. At first, Crue seemed like any other child. He had occasional ear infections, but never seemed to be in pain.
Our daycare provider noticed some random vomiting and suggested he might have another ear infection. Over the next months, he had recurring ear infections and eventually had tubes put in at 18 months.
Crue reached milestones slowly but we told ourselves that it was a normal and our second child. He didn’t enjoy books or sitting still for bedtime stories. He didn’t walk until 16 months, and I remember a Halloween picture of him crawling around in a skunk costume. His speech was delayed, and he had a stutter that came and went. Every time we worried, the response from doctors was that he would eventually catch up.But then came a diagnosis that changed everything: Sanfilippo Syndrome.
During the summer before he started school, Crue had persistent, unexplained diarrhea. At first, we thought it was nothing serious. But as the symptoms continued, we knew something wasn’t right. When he began Junior Kindergarten, schoolwork and basic skills were challenging, and his diarrhea persisted.
Crue’s pediatrician initially suggested a MiraLAX cleanout, but I was hesitant. He had never been constipated before. X-rays and ultrasounds showed his liver was slightly enlarged, but nothing seemed alarming at the time. Still, as parents, we knew something was off.
A referral to a pediatric gastroenterologist led to a more thorough examination, and the doctor recommended a genetics evaluation due to our concerns about his development. That’s when we met Dr. Li at Sanford Children’s, a lifesaver in what became a long day of testing, family history, and careful observation.We shared every detail: his chronic ear infections, delayed speech, diarrhea, stutter, delayed walking, learning struggles, and enlarged liver. Labs and a urine sample were taken, and the possibility of a metabolic disorder was raised. But nothing prepared us for the news that followed.
On October 13, Crue’s urine test confirmed our fears: Sanfilippo Syndrome, Type A the most serious form of this rare, heartbreaking condition. As we heard the words, it felt like the earth had collapsed beneath.
Sanfilippo leads to gradual decline in skills, seizures, movement issues, and premature death typically during the teenage years. The sorrow was so profound it seemed unbearable to breathe. All of Crue’s initial struggles suddenly became clear The dreams we had for him, his first sports games, school achievements, birthdays, milestones, and the life he might have shared with his brothers, were overshadowed by uncertainty. Kade, Crue, and our youngest, Kai, had been inseparable, and we now faced the heartbreak of knowing that Crue would lose the ability to grow alongside them.
Since the diagnosis, we’ve focused on understanding, researching, and hope. We fight for Crue and for other children with Sanfilippo, advocating for clinical trials and treatments that can improve quality of life. Even amidst the despair, we’ve found small signs of hope, like the anagram CRUE = CURE, which reminds us of the importance of fighting for a future where children like him have a chance at life.
Sanfilippo is caused by a single gene defect, which leads to the absence of a vital enzyme. The lack of this enzyme causes harmful build-up in cells, especially in the brain, leading to progressive cognitive and physical decline. Despite the challenges, we remain committed to loving Crue fiercely, cherishing each moment, and advocating tirelessly for him and other children affected by this cruel disease.
As we moved through 2023, the future is uncertain, but we remain hopeful. Crue’s journey has reshaped our family, strengthened our resolve, and reminded us of the power of love, advocacy, and the human spirit in the face of unimaginable challenges.
