People of my community: USA

The United States and Friedreich’s Ataxia

This is new to me, probably new to most reading this right now. My name is Olivia, and I am 19 years old from the United States. Friedreich’s Ataxia is a rare deliberating genetic neuromuscular disease that affects 1 in 50,000 United States citizens. It causes significant difficulty in walking, a loss of sensation in the arms and legs, aggressive scoliosis, severe heart conditions, and many other symptoms. Although there is no cure, there are several treatments available to help one cope with symptoms such as clinical trials, specific vitamins, and lots of exercises.

First, I would like to introduce myself; my name is Olivia (as stated above). I was

diagnosed with FA when I was 15, approximately five years ago. I adore animals and aspire to become a veterinarian. I have three dogs, seven domesticated ducks and ten that are not, and I have 2 Magpie rabbits. Currently, I am in college in an attempt to reach my dream. Although my diagnosis was years ago, I am still walking, I do have a cane and am looking into getting a walker as my FA is getting worse. I am a FARA Ambassador, and I spread tons of awareness via social media. I live in the United States, and Hasitha told me that India was much different, socially, scientifically, and more.

Social Issues for People with Physical Disabilities in the United States

In my society, individuals with disabilities are treated much differently than the nondisabled.

Issues range from the environment around to the people themselves. In terms of the

people, they may have distinct stares towards us or may even treat us like we aren’t human

beings like them. I get it, though, the human brain is full of curiosity, but it is not an excuse to be rude.

Human Etiquette

In our country, the public does not always have the proper etiquette when seeing one with

ailments or injuries and does not understand how to interact with us better. The stares and

whispers take an emotional toll on most, including myself, and individuals seem not to

understand fully.

Environment

Many citizens with impairments might be in a wheelchair or, in my case, another device.

I’ve noticed many ramps and railings crumbling and/or are broken, making it much harder for people like us, especially if no one is there to help. In recent years, I noticed people are

constructing more and making the ramps and railings better for us. The problem is starting to be solved, but I do not know what other parts of the country are doing, but I heard it is getting better.

As for another issue, many perfectly healthy citizens use the accessible restroom stalls for

just a more prominent, more private place, instead of thinking that someone who is incapacitated may need it. For me, I need railings, so I do not fall into the toilet. People in wheelchairs need that stall as its the only stall that their chair fits in and makes it able for them to transfer.

Employment

To this day, employment is a massive issue that all citizens face but much different when

it comes to disabled people. Many businesses may not want to hire us because we cannot do what ordinary people can do. “Only 18 percent of 193 constitutions guarantee the right of people with disabilities to work” (npr.org). We need to be able to make money for our medications, medical tests, insurance, housing, food, etc. If we are not employed, we have significant difficulty in staying as healthy as possible. The world revolves around money, and you need money for almost everything you do, particularly as a person with a disability.

Treatments and Gene Therapy

By FA’er: Shandra Trantham

FA is a disease caused by a gene mutation that renders the body unable to produce

enough of a protein called Frataxin. Frataxin is crucial to average energy production and prevents oxidative stress in the cells. There are several kinds of potential treatments being developed right now. Each one takes a different approach to combat FA. Omaveloxolone kickstarts the body’s natural antioxidant defenses (through a pathway called Nrf2) to help clear the damage FA causes. Omaveloxolone had positive trial results, and the company, Reata, is currently preparing a New Drug Application so that Omaveloxolone can be submitted for FDA approval. Another drug in the late stage of development is RT-001. RT-001 reinforces the membranes in the cell, so they resist the oxidative damage that FA causes. Membranes are made of fats, and healthy fats are susceptible to oxidative damage. RT-001 is a modified version of that same fat that is less susceptible to damage. The idea is to limit the consumption of the healthy fat in your diet and replace it with the “reinforced“ fat (RT-001), so your cells are more potent against FA. RT-001 is currently recruiting in a pivotal phase 2 trial, meaning that if the trial is successful, there will be no phase 3, the drug will immediately go for FDA approval. Neither of the last two therapies affects the amount of Frataxin (the missing protein). Still, they help the body protect against the chaos happening because of the lack of Frataxin. A new therapy, CTI-1601, directly addresses the lack of Frataxin. CTI-1601 is also called protein replacement therapy because it involves repeated injections of Frataxin so the body can have the protein it is missing. The idea is similar to insulin injections for a type 1 diabetic who cannot make insulin. CTI-1601 is currently in Phase 1, first in humans safety trial. Lastly, there is a treatment in development that directly addresses the root cause of FA (the faulty gene). This treatment is called gene replacement therapy. It involves delivering a working copy of the Frataxin gene into the cells so that they can make their Frataxin without repeated injections. Gene therapy works by taking a harmless virus called AAV and stripping it of all the things that make it a virus, except for the capsid (the shell). The functional Frataxin gene is then put into the capsid shell, and the virus is delivered to the body. The virus then “infects” cells with the healthy Frataxin gene! The idea is that cells will be able to make Frataxin and function as if there is no FA mutation. Several companies are working on a gene replacement therapy for FA. 2 of them, the University of Florida and PTC Therapeutics, are in the final stage of preclinical work and are entering phase 1 clinical trials soon.

FARA and the FA Community

The Friedreich’s Ataxia Research Alliance (FARA), is the center of everything an

individual may want to know about FA. They organize events for people to attend, and most

events raise money towards a cure. One event I love is the FARA Energy Ball. Everyone gets

dressed up for a HUGE dinner with dancing, a live band, and an auction. It is held every year in September and raises a ton of money. Another event is called rideATAXIA, where people and FAer’s ride bikes for several miles (usually its 4-50 miles). They hold several of these in different places over the country each year. FARA also has its website called curefa.org, where you can learn all about Friedreich’s Ataxia, research, events, clinical trials, and much MUCH more. The FA Community is astonishing and so heartwarming if you may ask me. I get to communicate with people all over the world with FA and hear other people’s stories. I have met and made so many new lifelong friends. The community helped me overcome the emotional toll that the diagnosis of Friedreich’s Ataxia had on me.

Conclusion

I’m not sure what our cultures have in common and the differences, but I am sure there’s quite a lot. My job here was to educate Hasitha’s audience with the point of view of having Friedreich’s Ataxia and the science surrounding it in The United States.

I also have my website called oliviawithfa.com, and I will upload Hasitha’s similar article, but instead of being in The United States, it will be about her country. I also have quite the following on an application called TikTok with 200k+ followers, and I spread awareness about FA, and I have an Instagram too, both accounts have the username @oliviawithfa.

If you have any questions, direct your questions to Hasitha and I will answer them!

Please stay safe during this time (I am not sure if COVID-19 is as bad there as it here).

~ Olivia :)