eSCAping Type 1

International Ataxia Awareness Day – held every year on September 25th – was created to promote awareness for this rare disease to better our chances of finding a cure.

Technically, “ataxia” is defined as a symptom of imbalance; if you have Parkinson’s, MS, etc. you probably have ataxia.

However, the capital-letter genetic disease is what we’re focusing on here. The (clickable) pdf below briefly outlines the MANY variants of Ataxia…all of which have different backgrounds, symptoms, progressions, etc.

Regardless of the variants, Hereditary Ataxia shares some common traits among anyone affected (like me!). So, here are four key pieces of information that I think you should know about this disease:

1. What is Ataxia?

Hereditary Ataxia is a chronic, rare, genetic, neurological, progressive, degenerative disease.

* Chronic – lasts a lifetime

* Rare – this disease affects about 150,000 people in the U.S.

* Genetic – it is caused by discrepancies in a person’s DNA, meaning you’re born with it, even if you don’t start showing symptoms till later on in life

* Neurological – the cerebellum (the part of the brain overseeing muscle control) is most affected; MRIs often show it deteriorating or shrinking over time 

* Progressive – symptoms get continually worse, though at an unknown rate

* Degenerative – deterioration is irreversible (a “cure” is more likely to be a treatment that deters the progression since the brain can’t really be rebuilt … but then we’ll be able to focus on strengthening muscles & stuff to make us “better”)

 

2. Causes

(Information taken directly from NAF, because I have zero medical background)

Dominant: “Each child of a parent with an autosomal dominant Ataxia gene has a 50% chance of inheriting the Ataxia gene. Since the gene is dominant, if a gene is passed on to the child from one parent, the child will develop the disease. Men and women are affected equally.”

* Spinocerebellar – more than 40 types of different genes of SCA have been found; I have Type 1

* Episodic – characterized by “attacks” of Ataxia; there are now 8 recognized types

Recessive: “Autosomal recessive inherited diseases affect males and females equally, but both parents must be carriers of the Ataxia gene and each must pass on the Ataxia gene to the child for the child to develop the disease. Each child of parents who are carriers of a recessive gene have a 25% chance of developing the disease, a 50% chance of inheriting just one of the Ataxia genes, becoming a carrier themselves, and a 25% chance of inheriting no Ataxia genes. Because a single recessive Ataxia gene does not cause symptoms, it can be passed on in a family for generations without being recognized. Therefore, there can appear to be no “family history” of Ataxia if the disease was inherited as a recessive gene.”

* Friedrich’s – caused by an abnormality in the Frataxin gene, the most common form of this rare disease

* Telangiectasia – appears early in childhood, noted for tiny red “spider” veins near the eyes

* Mitochondrial – passed on through the mother’s eggs

There are also Unknown & Non-Hereditary caused Ataxia.

 

3. Common Symptoms

While the onset, progression, and even types of symptoms vary between types and people, some common symptoms include lack of coordination, trouble with balance and walking, gait abnormalities, deterioration of fine motor skills, difficulty eating and swallowing, slurred speech, fatigue, vision impairments, tremors, and heart problems (more typical with FA).

 

4. Treatments

There is no cure for any type of Ataxia YET, though there are some medications to alleviate various symptoms and a number of clinical trials underway.

You can donate HERE to fund research to help!

 

Please help me create awareness on September 25 (or really any day, I’m not picky) by doing what you can of the following:

* Save & post any of the designs found here to promote the day … or share one of mine via Instagram or Facebook

* Use & explore the #IAAD22 and #ataxiaawareness hashtags

* Ask me anything about living with Ataxia by clicking HERE.

* Spend time reading other posts on my blog… and then tell your friends and family about it (All Posts)

* Remember, knowledge is power! Visit these links to learn more: National Ataxia Foundation, Friedreich’s Ataxia Research Alliance

* Donate to fund research to help find a treatment/cure: NAF, FARA