This Spinocerebellar Ataxia Patient is Committed to Spreading Awareness

According to a story from Kamloops Coffee Talk, Darrin Rein, of Kamloops, British Columbia, was just recently diagnosed with spinocerebellar ataxia, a rare disease that affects mobility and coordination. Despite the fact that his diagnosis was fairly recent, Darrin has been dealing with the symptoms of the disease for years. Now, Darrin is focused on spreading awareness about his disease.

About Spinocerebellar Ataxia (SCA)

Spinocerebellar ataxia (SCA), also known as spinocerebellar atrophy, is a progressive, degenerative disease that affects the cerebellum, a portion of the brain that is critical for movement control and coordination. These heritable disorders can often be fatal. There are several different types of spinocerebellar ataxia which are linked to a variety of genetic mutations; many types are caused by repeats of the CAG gene. Symptoms of these disorders include ataxia (abnormal gait), seizures, poor hand coordination, speech difficulties, peripheral neuropathy, chorea, and cognitive impairments. Unfortunately there is no cure for spinocerebellar ataxia and treatment is mostly focused on relieving symptoms. Physical and occupational therapy can help patients maintain their mobility. Gene therapy could be a potential future option for treating spinocerebellar ataxia. There is a dire need for more effective treatments for this disorder. To learn more about spinocerebellar ataxia, click here.

Darrin’s Story

Darrin says that he inherited the disorder from his mom, and that one of his sisters and some cousins are also affected by it. He has seen his coordination and mobility decline drastically in recent years. He can no longer enjoy many of the sporting activities that he once loved, such as snowboarding and mountain biking. Darrin is still able to drive, but he believes its only a matter of time before he loses that too.

Some estimates suggest that there could be as many as 16,000 patients throughout Canada. This is why Darrin wants to help spread awareness, as misdiagnosis is common, as is a lack of diagnosis altogether. Darrin writes about spinocerebellar ataxia on his blog and also participates in many multiple sclerosis (MS) related events and fundraisers. He does this because the symptoms of the two diseases are similar and he still feels a connection to MS patients even though they have a different disease. Spinocerebellar ataxia is often misdiagnosed is MS as well.

To learn more about Darrin’s experiences, check out his blog here.

 


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