The Klassen family is no stranger to the rare disease community. According to the Denver Post, Greg Klassen was first diagnosed with spinocerebellar ataxia type 3 (SCA3) nearly ten years ago. More recently, his son Jeff also received a diagnosis of SCA3, though Jeff does not yet have symptoms as Greg does.
After connecting with non-profit biotechnology company Cure Rare Disease, Greg, Jeff, and Jeff’s wife Rose are now working to not only raise SCA3 awareness but to ensure that patients with rare diseases have access to affordable treatment.
Raising SCA3 Awareness
Abnormal speech. Vision loss. A need for mobility assistance. All of these are aspects of life that Greg has now become somewhat accustomed to. But that does not make life any easier for him or the rest of the Klassen family.
However, Cure Rare Disease could offer a potential way to treat Greg’s SCA3 and prevent disease progression. More so, this could open a route for Jeff’s future treatment needs. After connecting with Cure Rare Disease, the Klassen family was connected with a doctor in the Netherlands. With over $100K raised for treatment, Greg’s future is uncertain – but the family is hopeful. Ultimately, the treatment will cost around $2-3M in total. But the Klassen family believes that Cure Rare Disease, and the inherent advocacy associated with this organization, brings hope for better days, better treatments, and better options.
To help support the Klassen family, and other patients in need, the Klassens are participating in Cure Rare Disease’s “Strive for Five”—a collaborative campaign intending to raise $5M to support rare disease treatments and research. The campaign asks everyone to donate $5 and pass it along to five friends. If you would like to donate to Strive for Five, you can do so here.
Spinocerebellar ataxia (SCA) refers to a group of hereditary ataxias, or conditions which occur when the parts of the nervous system which control movement are damaged or degenerated. There are multiple different forms of SCA, all of which result from various genetic mutations. For example, ATXN1 mutations have been associated with SCA type 1 (SCA1); ATXN3 mutations have been associated with SCA3. While some mutations are known, others have yet to be discovered. Symptoms vary but include loss of coordination, difficulty walking / an irregular gait, impaired hand-eye coordination, abnormal speech, and problems with vision.
The Klassen family received a diagnosis of SCA3. Also known as Machado-Joseph disease, SCA3 is characterized by progressive movement difficulties. Symptoms usually manifest in mid-adulthood, and overall survival is usually 10-20 years post symptom onset. Specific symptoms and characteristics associated with SCA3 include:
- Poor balance and coordination
- Peripheral neuropathy
- Muscle stiffness, rigidity, and cramping
- Bulging eyes
- Double vision
- Restless leg syndrome
Learn more about spinocerebellar ataxia.