We’ve heard recently about large amounts of money being raised for well-known diseases. People’s generosity is amazing. But what if you’re the parent of a child with a rare disorder that the majority of people haven’t heard of, let alone know a child that is affected — what then?
In these cases, parents, such as Kara Warden of Windsor, sometimes take on the additional role of fundraiser.
Warden’s son, Vinny, has Canavan disease, an extremely rare genetic disease that affects just 50 to 70 children in this country and approximately 600 to 700 worldwide.
Vinny, who will be 11 in September, lives in Windsor with his mother, father Brian and sister Kayla.
He is a bright-eyed boy with a broad smile, which he freely gives to everyone. Although Vinny is non-verbal, he laughs at his mother’s jokes and responds to his dogs barking on the porch. “He does a lot of vocalizing,” said Kara. “He understands all that is going on around him.”
Vinny is the only child in Colorado known to have Canavan disease, which is a leukodystrophy. The NIH notes that, “leukodystrophies are rare diseases that affect the cells of the brain. Specifically, the diseases affect the myelin sheath, the material that surrounds and protects nerve cells. Damage to this sheath slows down or blocks messages between the brain and the rest of the body.”
For more info
To learn more about Canavan disease and ongoing research, visit rowan.edu/som/cgtweb.
If you choose to make a donation through the website, please specify that funds are to go directly to Canavan research.
Individuals can also donate through the gofundme.com/CureCanavan.
In Canavan, the gene coding for the enzyme ASPA (Aspartoacylase) is defective. The lack of the healthy enzyme impairs normal myelination and causes degeneration of the brain, according to the Cell and Gene Therapy Center at Rowan University-SOM in New Jersey.
The disease has affected Vinny in numerous ways. “There are the obvious physical signs,” said his mother, “He’s non-verbal, non-mobile, has an enlarged head, is 100 percent tube fed, has seizures and respiratory issues.”
But he also has, “friends his age, has been invited to birthday parties and spends most of the day with a smile on his face,” Kara added.
Until recently, Vinny had been attending school, but an increase in respiratory problems made that difficult. He is now only able to sit up with support. Vinny is tutored at home three times a week and receives physical therapy. “He loved school,” said Kara.
How has Vinny’s disease affected his family? “How has it not!” said his mother, “everything from jobs, hobbies, and gaining and losing friends. When you have a kid that requires 24-hour care it infiltrates every single aspect of your life.”
A neurodegenerative disease, Canavan disease worsens as a child ages. Most children are diagnosed before they’re one year old. An MRI, at 9 months, confirmed Vinny had leukodystrophy. Canavan was diagnosed after a follow-up urine analysis.
Learning of the diagnosis was heart wrenching for his parents. “You want to take him and run away, but you can’t,” said Kara. “You’ve lost the future that you had hoped for this child.”
Canavan disease has an autosomal recessive pattern, which means both of the parents must carry the gene for Canavan to occur. “It’s very East Coast centralized, because it typically is a Jewish disease, said Kara. But the Wardens are not aware of any Jewish ancestry in their family.
Following his diagnosis, Vinny’s parents were told to “take him home and love him. You’re not going to have him for very long.” At the time, children with Canavan disease were living only into early childhood.
There is now hope that gene therapy, coupled with good pharmacological care will provide some chance of extending that time and improving the children’s quality of life. Following early trials some children have lived into their teens, a few making it to their 20s, according to Dr. Paola Leone, director of the Cell and Genetic Therapy Center at Rowen University-SOM.
When he was 25 months old, Vinny participated in the research study conducted by Dr. Leone and her colleagues. As part of the study, physicians placed healthy ASPA genes in Vinny’s brain. “He did grow myelin,” said Kara.
More research is needed to fully understand Canavan disease. Many of the grants, which funded the original study, have now expired, and parents like Kara are trying to get the word out.
“Many [parents] have climbed mountains to help us through to therapies and funding,” shared Dr. Leone. “They are a tremendous community. To work with them, to support them is the most rewarding activity of my professional life.”
“This is where we are,” said Kara. “There would be no purpose in being sad and looking at what will happen in the future. We will, without a doubt, give Vinny the happiness he deserves — no matter what form that takes.”
