At six years old, Benny was unable to sit up, roll over and scoot like other babies his age. Missing all the major milestones, his mother Jennie knew that something was afoot.
The doctors told Jennie that this was perfectly normal, that some babies take longer than others to develop. Other than some muscular problems with his eyes, everything seemed fine. Even a second medical opinion told her Benny was just fine.
But a mother’s intuition could be stronger than a doctor’s medical degree.
Jennie took her son to a third neurologist who uncovered N-acetylaspartic acid (NNA) in Benny’s urine. This was a tell tale sign of Canavan disease. This rare genetic neurological condition damages the ability of nerve cells in the brain to send and receive messages. Children with this disease live a hard life and often only live to age 10. To learn more about Canavan disease, click here.
To her dismay, Jennie learned that she was a carrier for Canavan after undergoing genetic testing ten years prior. She now warns women to avoid any kind of genetic testing before having a baby. After meeting with a genetic counselor, they also learned that their one year old son, Josh, also had Canavan disease.
When she learned that there was no cure, Jennie spent three days crying, memorizing her children’s facial expressions and counting down the minutes she had with them.
After the initial shock and weeping period, Jennie and her husband Josh, were ready to act. They became Canavan researchers and discovered a gene therapy that could treat it. Unfortunately, the treatment was underfunded and stuck in lab limbo, short on $1.2 million for development.
To help propel the treatment, the family launched a GoFundMe campaign.
Within four days, they raised over half of their goal– they’re currently over 650,000. This money will go directly toward Dr. Christopher Janson’s gene therapy on patients with Canavan. This treatment could change the face of the disease forever. The same approaches used in the treatment can also be used to treat Alzheimer’s disease.
Benny is now 17 months old and Josh, 4 months old and their hands always find their way to clasp together.
“They are happy little dudes,” Josh said in an interview with today. “You can’t be sad when you are around them.”
If you would like to donate, you can do so here.