Canavan disease is a type of leukodystrophy frequently found in the Ashkenazi Jewish population. It’s a rare genetic condition which is ultimately fatal. It’s all caused by a deficiency of the aspartoacylase gene. The condition results in the degeneration of white matter in the brain. Patients experience developmental delays, seizures, blindness, as well as other complications. Most people with Canavan disease don’t live past the age of 10.
However, researchers have been working to develop a gene therapy for the condition which they believe has the potential to ultimately cure the disease.
The hope of this treatment is what the Ilinetsky family is holding on to. The family has twins who are both diagnosed with Canavan disease.
The Twins
Their names are Yael and Yoel and they were both diagnosed at 3.5 months of age after their mom noticed Yoel wasn’t able to look at her. It seemed to be that her son was looking “through” her instead of at her.
After genetic testing, the diagnosis for both children was confirmed.
The twins aren’t able to do much on their own. However, things like playing can be taught, and Yael and Yoel are both undergoing neuromovement therapy with hopes they’ll be able to reach some developmental milestones.
Potential Therapy
Yael and Yoel’s parents are sharing their story for two reasons. The first is because the gene therapy they are working to fund for their children costs 2 million dollars. They need help to reach this goal, and they’re hopefully asking for the kindness of strangers.
If you would like to contribute toward gene therapy for these twins you can do so on the family’s GoFundMe page. Thanks to a partnership with Chabad, donations toward the cause are tax-deductible.
The study of this gene therapy is being completed at Rowan University and the funds will allow the research to be translated into a clinical setting.
Secondly, the family wants to encourage everyone to receive genetic testing before conception. Had they had gone through with this testing, the parents say they would have undergone in vitro fertilization so that the embryos could have been tested for the condition before they were implanted.
Both parents were carriers of the gene that causes the condition, and neither had any idea before pregnancy began.
While there is still a lot of uncertainty in their lives, this family is holding on to hope. Yael and Yoel’s parents make it clear they’re determined to fight for their survival.
You can read more about this family’s journey with Canavan disease here.
