Crue Bucknell is an amazing seven-year-old. He’s loved by his peers at school, adored by his brothers and a big fan of rainbows and playing tiggie. He is also living with an incredibly rare disease that will cause him to lose all the skills he has gained in his short life.
Most children with Crue’s rare disease don’t make it past their teens.
Crue’s disease is called Sanfilippo Syndrome Type A. It’s very similar to Alzheimer’s and dementia but in children. It’s probably one of the most devastating diseases we’ve ever heard of which is why we wanted to share Crue’s very brave journey so far.
While Sanfilippo Syndrome Type A is very very rare, it does happen. Advocate for your child if you feel something isn’t right and, if you are able to, please show your support by donating to Crue’s Fight for a Cure.
Crue’s Story
Kayla Bucknell, Crue’s mum, shares updates on Crue and their quest for a Cure for Crue on Instagram and also through Love What Matters.
Crue was born in 2017. The first sign that something might be amiss with their darling second son was his constant ear infections. Crue never showed signs of pain but he battled on and off with ear infections for the first year of his life and had tubes when he was 18 months old.
As a toddler, Crue didn’t seem too interested in books or walking, which Kayla passed off as ‘second child syndrome’. Crue didn’t walk until he was 16 months old (which isn’t considered a delay) and he had speech delays but the family assumed Crue was doing things in his own time. When Crue began preschool he struggled with learning and developed a stutter.
Next came the unexplained diarrhea that did not accompany any other symptoms such as fever or illness. Doctors suggested he was constipated and did a MiraLAX cleanout. This didn’t solve the issues and on another examination, doctors discovered Crue’s liver seemed larger than normal.Â
An ultrasound confirmed that Crue’s liver was larger than normal, even larger than the average grown adult. Kayla knew something was wrong. They got a referral to the pediatric gastroenterologist and then a genetic specialist who finally had an answer for the Bucknell family.
On 13 October 2022, a day Kayla refers to as D-Day, she received the news that their son had Sanfilippo Syndrome Type A or MPSIIIA.
We were told not to Google Sanfilippo until we met with the doctor the next day, any parent would never take that advice. I felt physically ill, with tears that didn’t stop for days. We were broken.
Sanfilippo NEVER showed up in any of my research or thousands of google searches. This was not on our radar. This was not something our child could have.”Â
What is Sanfilippo Syndrome?
Sanfilippo Syndrome is a rapidly, degenerative disease that attacks the brain and body. It is caused by a single genetic defect which causes the body to lack a necessary enzyme. Because of the lack of enzymes, the body is unable to break down heparan sulphate, a natural cellular waste.
Because children cannot break this down, their brains become filled with toxic levels that will lead to disordered sleep, loss of speech, cognitive decline, cardiac issues, seizures, loss of mobility, inability to eat by mouth and eventually, death.
“Crue will lose all the skills he has gained in his short life, suffer seizures and movement disorders, and eventually die in his teens.
You see five years of your child’s life. You think about his first t-ball game, his first day of kindergarten, his first basket scored, his first solo at the Christmas concert, his first date, and a future spouse. The dream of them becoming parents one day.
A family of 3 boys you imagine them growing up together. Kade, Crue, and Kai are the best of friends. They race through the house, wrestling, and throwing any ball they can get their hands on.
Not only will we lose a child, but they will also lose their best friend, their brother.”
Children with MPS III usually appear healthy at birth, but developmental delay is usually evident by age two to five. Mental and motor development peaks by three to six years of age, after which an intellectual decline usually occurs.
Other symptoms that Kayla noticed in Crue are:
- Chronic ear infections
- Speech delaysÂ
- Chronic diarrhea
- Stutter
- Learning delays
- Delayed walking
- Enlarged liver
Since Crue’s diagnosis, the Bucknell family has continued to raise awareness in the hopes of a cure during Crue’s lifetime.
“We wait, we hope, we pray, and we fight for someone, somewhere out there that will care enough to help fund clinical trials and save these children. If money was no object, would we find something to help their quality of life.”
Crue, now seven years old, is a little champion who dressed up as a brown bear for Halloween and had a Toy Story-themed birthday. His speech, cognitive skills and mobility are, for the most part, strong but the chance of learning any new skills is almost impossible.
Still, Crue and his family celebrate him every day.
“We celebrate his love for life, his family, love for the outdoors and he can’t wait to go deer hunting! We celebrate his love for books, UNO, asking all the questions and making sure he knows who the Packers are playing at all times.
His smiles are infectious, his politeness is genuine and if he trusts you he will love you forever.
Stay strong sweet boy the world is better because of you.”
To know your child will not make it past their teens is absolutely heartwrenching. We send our support to the Bucknells and hope for a Cure for Crue. You can donate to Crue’s mission here.Â
