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SIMON FAMILY TIME-LAPSE OF SCA-17

Simon Family Time-lapse of SCA-17

Emilee Page

Salt Lake Community College

EDU 1400: Study of Disabilities

Professor Catherine Giddings

December 10, 2020

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SIMON FAMILY TIME-LAPSE OF SCA-17

Abstract

The disability that I am choosing to research is SCA-17 or Spinocerebellar Ataxia Type

17. This is a rare genetic disease that hits close to home in the sense that my boyfriends’ sister,

father, grandmother, and other lineage before having had this genetic disease that reveals various

disabilities. This also means that my boyfriend may have this, but he was not old enough to look

at the test results. His sister does have this genetic disease. I chose this disability because there is

not much research on it, and I would like to see what information I can source. I also chose it

because of the people that have or could have it around me. I say genetic disease because that is

what it is, but it also causes an array of disabilities. This depends on the repeats in the genetic

code, which corelates with how soon and how severely it will affect the person. The main

disabilities it causes are from the brain deteriorating. It manifests in incontinence, impaired

motor functions, and cognitive ability declining. This is stuff that I have already learned about

the disease through my boyfriend. In my own research, I would like to use the form of

interviews. I am going to interview Eric, my boyfriend’s father. I am going to ask him about his

mother who had the disease and the parallels and differences he spots with in his own

experience. I would also like to interview my boyfriend’s sister, Maddie, who has the genetic

disease, but has yet to develop any disabilities or signs of the disease. I would also like to look

into scholarly journals and medical research regarding SCA-17.

I gained a lot of new insight into Spinocerebellar Ataxia 17 through these interviews. It

was uncomfortable at times to ask these questions, but I found it to be interesting. As I stated

above, I interviewed Maddie, Eric, and Alicia (Eric’s wife). I initially was not going to interview

Alicia because she does not have this disease, but Maddie said she knew a lot about it and said
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that it would be a good idea to get her knowledge on the topic being the caregiver for Eric. The

interviews are intertwined as follows.

Maddie Simon is 27 years old. She found out that she was positive for this genetic

disease when she was 21. I asked Maddie how she remembered her grandmother, Lou, who is

deceased because of this disease. She stated, “She was always cold and angry as a person from

what I can remember at a young age. She shook a lot, and she had no filter in the sense that she

would swear up a storm.” Alicia, Maddie’s mother remarks that, when Lou was holding Maddie

for the first time as a baby, she could not rock Maddie, it was awkward. For all of Maddie’s life

she remembers that her grandmother had always had this disease.

Eric Simon is 52 years old and he found out that he was positive for SCA-17 when he

was 36. When I asked him about his relationship with his mother Lou growing up, he told me

that it was a normal relationship. He mentioned that when she reached her 40’s, is when Alicia

and Eric started to notice major changes in her.

Lou was born in 1945 to put things into perspective. She was 8 years old when her father

died at 49 in the ambulance, from colon cancer. The great grandfather did have these genetic

repeats, but at the time SCA-17 was not classified until the year 2000. He never lived old enough

to have symptoms. In more recent findings however, SCA-17 has been found to be connected to

colon cancer. Lou had colon cancer, and Eric has had polyps removed.

When I asked Eric how he noticed that this affected his mother, he said, “Something was

off about her initially. She developed colon cancer, which was the first sign. Another one of the

first signs is that her writing started to look really bad in her late 40s early 50s. She also
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developed a gait while walking, where she would shuffle and drag her feet.” They originally

thought she had Parkinson’s.

When Eric became engaged to Alicia in 1989, Lou’s vocal cords became paralyzed. She

was a schoolteacher at the age of 44 when this happened. Something coincidental was that

Alicia’s sibling’s had Mrs. Simon as a math teacher and described her as being very strict. Right

before her vocal cords went out, she was having a hard time controlling her classroom.

This was the point in time when Lou began seeing a physician that tested her for this,

defined by the Ataxia. At the age of 57, in the year 2002 was when she was diagnosed with

SCA-17. She soon started to decline more rapidly after these initial signs and symptoms. One

prominent episode around this time was when she collapsed at home while she was alone. She

tried screaming for 4-8 hours, by the time her husband came home, she was emitted to ICU. At

the ICU, her electrolytes were imbalanced, this was when she became incontinent. She learned to

fix it, but it soon became uncontrollable. She would at times use it as a tool for manipulation.

Unfortunately, this also affects your personality. According to Alicia, she said, “She was

apathetic, easily irritable, and soon became mean, scary, and swearing like a sailor.” She did not

remember her grandchildren near the end of her life. At the end of it she was given carrots to

hold in her hand to keep her hands from bleeding. She had no control over how hard her hands

would squeeze, so carrots made it so she would not bleed from her nails digging in. Maddie

informed me that Botox can help with this extreme rigidity by stiffening the hands so that they

are not able to do this.

She initially started to lose her ability to walk at the age of 54 in 1999, when Eric and

Alicia were at a carnival with Lou and other family members. Alicia said, “She could not walk
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well all day and near the end of the day she slumped into the door of the car and could not pull

herself back up.” Her husband was in denial of this until the last 5 years of her life where he

would watch her rapidly decline. During these last years, she fully lost her ability to walk and

was put into a wheelchair. She also had another prominent episode that landed her in a nursing

home and then to a care facility. At this facility is where she starved to death because she could

no longer swallow. She was 69 when she died.

One thing I have found interesting about this research is the comparison of Eric and his

mother. Eric’s doctors due to their cognitive testing process believe Eric has improved and

lowered his ataxia at this time. Alicia describes Eric, “He is not as patient as he used to be, he

used to be the nice one. SCA-17 lessens his filter; his words do not always come out the way he

is intending them to sound. If he does not have protein he will shake.” Eric describes himself,

“I’m not as patient, my voice can pitch, and my thought processes are slower.” Eric can ride a

bike, which is a test that doctors can also use to determine how much this is affecting him. This

is quite a notable difference from Lou in her 50’s, she definitely could not ride a bike at the same

age Eric is now. Doing physical activity everyday has helped Eric and his cerebellum activity.

Alicia says, “Testing varies day by day, a year it could have declined but the next year it could

be better.”

Something interesting that I came to learn over the course of these interviews is that

everyone has these genetic repeats in their genetic code. “Individuals with normal TBP alleles

have between 25 and 44 repeats, whereas SCA17 patients have between 47 and 63 repeats.”

(Gao et al., 2008) Maddie shared with me that she has 45 repeats, this is quite a low number of

genetic repeats. Eric told me that he currently has 52 repeats. Lou died with 57 repeats. An

interesting fact about these repeats is that they can exponentially grow. Neurologists suggest
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physical and mental activity can decrease this ataxia or keep it at bay from growing. Lou,

however, refused physical therapy, she would not follow recommendations. I believe that this led

to a shorter life for her, with more complications.

When I asked Maddie about the difference between Lou and her father, Eric, she said,

“My dad is less severe, he is taking steps to slow the symptoms. Grandma Lou did not like to do

physical activity; she did some mental activity with reading, however.”

Maddie, Eric, and Alicia shared with me interesting facts that they had learned over the

years of their own research and from doctors. The first known case was a 6-year-old girl in

Japan. She learned to walk and then lost the ability. She was in a wheelchair by 8, and dead by

10. This girl had 80-100 genetic repeats. Most cases are in Japan and Germany, the Simon family

is from German descent. About 1 person per 2 million people in Japan have this. Fewer than 100

families have been reported to date. (GARD, 2011)

The process to get tested is done by 1 lab in the United States, which is called Athena.

The process Maddie described she went through was to first see a genetic counselor at the

University of Utah. They had to determine if she was mentally fit enough for this news. She went

through multiple meetings starting at the age of 20. She then went to a Neurologist for a baseline

report, and a psychiatrist to determine mental health. Lastly, she had her DNA coded at

Intermountain health care, then the results were sent to Athena. The results arrived in a month.

According to these interviews, scientists do not fully understand how the number of

repeats in genetic code and the severity correlate. It seems the more it is passed on the less

repeats get passed on with it in the Simon family, however, this is not always the case. There are

different ataxias, 35 to be precise, so it is difficult to find people to research on number 17

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specifically. It is said to be similar to Huntington’s disease, and a little like Parkinson’s, although

it is not as aggressive as Huntington’s, just slower paced.

Eric and Maddie both told me how important it is to not let the disease define them. With

advancements, they can treat symptoms, but there still is no cure. Alicia shares, “You can get

diagnosed with cancer, and die the next day, the point is that knowing that you have this helps,

you can plan for the future with money and where it will go.” There will be a treatment in the

future for this she hopes.

As you can tell SCA-17 is a complicated and rare genetic disease that deserves more

research. Once again, the disabilities that come with this disease is becoming very rigid,

developing an awkward gate, atrophy, behavioral normality, and difficulty in swallowing. I have

found Spinocerebellar Ataxia Type 17 to be engaging to research and interesting to discover

more about my boyfriend’s family. My boyfriend’s stance has now changed, he used to say to

me that “ignorance is bliss”. He was there for all of these interviews and I think that is what has

changed his mind on getting a test to see if he has SCA-17. I too hope for there to be a treatment

for this in the future and for doctors to focus on more rare diseases, like this one.
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References
Gao, R., Matsuura, T., Coolbaugh, M. et al. Instability of expanded CAG/CAA repeats in
spinocerebellar ataxia type 17. Eur J Hum Genet 16, 215–222 (2008).
https://doi.org/10.1038/sj.ejhg.5201954
GARD. Spinocerebellar Ataxia 17. (2011)
www.rarediseases.info.nih.gov/diseases/10469/spinocerebellarataxia17
E. Simon, Personal Communication, December 1, 2020
A. Simon, Personal Communication, December 1, 2020
M. Simon, Personal Communication, December 1, 2020