Ataxia, Did You Know?

Friedreich Ataxia (FRDA) was named after Nikolaus Friedreich, who first described it in 1863. It was the first form of hereditary Ataxia to be distinguished from other forms of Ataxia. It is caused by an abnormality of a single gene called the Frataxin (FXN) gene. The abnormality can be passed from generation to generation by family members who carry it. Two copies of each gene are inherited; one copy from the mother and one copy from the father. An individual who has one copy of an altered or nonfunctioning FXN gene does not develop any neurological symptoms and is called a carrier.

Today’s topic is Doctor Visits

So how many of you can relate to this

You show up at the doctor’s office - you are laser focused and ready to hear everything the doctor has to say….. It starts off great and then……………..

Yeah

Something happens…… it’s as if the doctor started speaking a foreign language and you really just need a translator

There’s so much going on

There’s so much running through your head

And you walk out of there not remembering a thing

That used to happen to us a lot and then we tried something We recorded the doctor visit

Most everyone today has a smart phone. There is a recorder on the smart phone. use it. Ask the doctor if he/she minds if you record the appointment - We haven’t had 1 doctor say no yet

What it does is it allows you to be in the moment without that anxiety of having to remember everything that was said

You can relax - when you get home you can listen to it again, you can stop it, rewind it, play it over and over again if you need to hear something a second or third time

You can jot down some notes or questions that you want to ask of your doctor.

We’ve learned that it’s too difficult to listen to what’s being said, process all that information, and think of questions all at the same time.

What a difference there is when you can refer back to the conversation.

So consider this option - Once you start doing it you’ll be amazed at how informational those doctor appointments can be.

Hereditary Ataxias are genetic, which means they are caused by a defect in a certain gene that is present from the start of a person’s life, inherited from your parents. Hereditary Ataxias can be divided into those that are dominantly inherited, passing from generation to generation due to a single copy of a defective gene passing from parent to child, and those that are recessively inherited, Ataxia seen in a single generation and is due to two copies of a defective gene; one passed from each parent (who are carriers) to the child.

Participating in a clinical trial is one way to take an active role in furthering understanding and treatment of Ataxia. It is also a way to get access to new treatment options before they are widely available

Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement

What are you eating? There is a direct relationship between what you eat and how you feel. Making better food choices is easier than you think. Listen in as I share my perspective on healthy eating

Patient Registries are essential tools for Ataxia researchers. The purpose of a patient registry is to advance the development of treatments for a disease by connecting researchers with those who are affected with that disease. If you or a family member are affected by Ataxia or are at risk for Ataxia, we recommend that you sign up on the appropriate patient registry

#kNOwATAXIA

Hi kNOwATAXIA Nation. Independence is something we all want. It’s vital to our self worth. Listen in to the podcast directed at caregivers. Why it’s important to allow your loved one to continue doing as much as possible for as long as possible

Thousands of families, friends, co-workers, neighbors, and communities come together each year to support NAF’s fight to improve the lives of people affected by Ataxia and their families.

National Ataxia Foundation

I would just like to thank everyone involved in advocating for the National Ataxia Awareness Day Senate Resolution. We can accomplish big things when we are united. #kNOwATAXIA

National Ataxia Foundation #Ataxia MINDlink Foundation