Marfan Syndrome

By: Chad Hudak

Marfan syndrome is a disease that usually causes vision problems and defects in large blood vessels from the heart. This happens because Marfan syndrome is a disease that affects connective tissues in the body. Marfan syndrome can appear at any point in an individual’s life and can be fatal if it is not treated. This disease affects roughly 1 in 5,000 people around the world and is caused by a mutation in the FBN1 gene. The gene FBN1 creates the protein fibrillin-1 which helps to form connective tissue. Fibrillin-1 creates structures called microfibrils that help connective tissue function properly. Without these microfibrils, the body will overgrow, and tissues will become unstable (5). A common symptom of Marfan syndrome is elongated limbs such as in this image:

Some signs of Marfan syndrome are elongated limbs and loose joints as well as an irregular heartbeat, shortness of breath, and general fatigue. It would be smart to get a genetic test done if you showed any of these symptoms and believed that you may have Marfan syndrome. That is because early treatment is crucial to living out a normal life with this disease. Because there is only one gene associated with the development of Marfan syndrome, I would recommend getting a single-gene sequencing done. I recommend this because there are over 1,300 mutations that could cause Marfan syndrome (2). This test will cost roughly $1,400 to $2,000 (4). The evidence between the variations found in this test and the trait are very solid. Individuals who have one of the variations in their FBN1 gene will have Marfan syndrome, although there are people who show some symptoms of Marfan syndrome but do not actually have the disease.

An issue that an individual might have if they get the test done is that their entire life could change if they find out they have the disease. If a person found out that they had the disease, they would then have to go through regular treatments and alter their lifestyle because of this disease. If a person had Marfan syndrome, it would be ideal to limit exercise and avoid any hard contact or overly strenuous activities (4). Along with lifestyle changes, the test and treatments are expensive. While these may cause someone to not get tested, this trait is inherited in an autosomal dominant manner, meaning that if either of the two alleles is mutated, the individual will have the disease (5). However, if your family has no history of the disease, then the test is not necessary unless symptoms occur.

Testing positive for Marfan syndrome would weigh heavily on a person’s conscious. As a consumer, you would want to assure that the results of the test were either sealed or anonymous to the public. Some downsides of taking the test are the cost and the emotional baggage that may come with the results. I couldn’t find a study on how people reacted to the results of their genetic testing, but individuals with Marfan syndrome came out in an article done by The Mightyand stated some things that they wish others knew about those who have the disease. One person stated that they live in “constant pain” and others motioned that the disease is not the same in every person and that there isn’t just one specific way that a person with the disease might look (1).

To make sure that testing is necessary, there are a few things that a person can check for on their own before making a decision. If one of your parents has the disease, or you begin to show symptoms, it is a very good idea to get tested. Before being tested, you should make a plan on what you will do following the results of the test. It is smart to do this beforehand because there may be disappointing results. If you test positive, you should begin treatment as soon as possible and talk to your doctor about lifestyle changes that may need to be made. In the event that you test negative, nothing needs to change.

If I tested positive, I would make sure to tell my doctor so that I would be getting the correct treatment for the disease. I would tell my doctor something along the lines of this: “Hello Dr.______, As you know, members of my family have had Marfan syndrome and encouraged me to get tested. I had a genetic test done and I tested positive for Marfan syndrome. I will begin treatments as soon as possible and I just wanted to let you know in case there are other medical issues that may arise from this. Thank You, Chad Hudak”.

The disease known as Marfan syndrome is very rare and affects very few people around the world. Because of this, it is not necessary to be worried about the disease unless you have a family history or symptoms occur. Marfan syndrome is not a life-threatening disease as long as precautions are taken to ensure good health.

Works Cited

Brentano, Elisabeth. “17 Things People With Marfan Syndrome Wish Others Understood.” The Mighty, 14 Nov. 2019, themighty.com/2015/11/living-with-marfan-syndrome-what-to-know/.
“FBN1 Gene – Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health, 12 Nov. 2019, ghr.nlm.nih.gov/gene/FBN1.
Inna, Prashanth. “Marfan Syndrome (MFS) Clinical Presentation: Physical Examination, Clinical Diagnostic Criteria for Marfan Syndrome.” Marfan Syndrome (MFS) Clinical Presentation: Physical Examination, Clinical Diagnostic Criteria for Marfan Syndrome, Medscape, 10 Nov. 2019, emedicine.medscape.com/article/1258926-clinical.
“The Marfan Foundation.” The Marfan Foundation, www.marfan.org/.
“Marfan Syndrome – Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health, 12 Nov. 2019, ghr.nlm.nih.gov/condition/marfan-syndrome#.

Chad Hudak – Tailgate Cleanup Crew

For my Service Outreach Project, I attended the Sunday tailgate cleanup behind the O-House dining hall. We went down into the creek nearby and cleaned up trash from the area. I worked closely with Jack Caiaccio.

I was very surprised with the amount of trash that we found even after the UGA cleanup crews went through the area. We found enough trash to fill up 3 garbage bags. There was an absurd amount of cans and bottles that had just been left or thrown into the wooded area near the creek. Another pair of students retrieved a tire, and ironing board, and part of a broken ladder from the creek. I was baffled by this because I couldn’t believe that someone would just throw those items into a creek and think it was allowed.

The process of cleaning up is extremely important to both the ecosystem in the creek and the overall look of the campus. If everybody took the time to pick up after themselves, this would not be an issue and our campus would be even more beautiful. And the saying beauty isn’t easy is very true. Jack and I had to get down into the creek and dig around in the dirt to get out all of the trash.

This experience has reminded me that cleaning up after myself is extremely important to keep the environment around healthy. From now on I will always pick up after myself and others because I want token our campus as beautiful as possible.

Chad Hudak – Climate Simulation Blog Post

When I played my role in the policy exercise, I felt almost left out in a way. Because my group was the UN, we didn’t have to negotiate too much with other nations because we were already doing as much as possible to cut down our emissions and we were giving out a generous amount of money. However, we did have some negotiations with the developing nations and got them to agree to use our funding with oversight from us.

In the first round, our claims did not really change because we were putting forth a massive effort to reduce emissions. The second round however, is where things began to change. We ended up donating $50 billion more than before and negotiated with the United States to give at least some money. They ended up only giving $12 billion to be used to help fight climate change. The biggest negotiation that we made successful also came in the second round of negotiating. We were able to get the developing nations to use our funding, under the condition that we could oversee the implementation and use of our funds. My reactions to the United States’ position changed but only slightly. In the first round they pledged to give only $17.76 which is just terrible compared to how much money they could have spent. In the second round, they raised that to $12 billion which I still believe is very little for them because they are currently one of the largest carbon emitters.

Our group changed our ideas because we originally thought that all of the developed nations would be willing to give money to help the less developed nations reduce their emissions, but we were mistaken. Our ideas then changed to convincing the developed nations to help while we were still giving tons of money in aid.

This change came about because of the lack of funds from some of the nations with the largest economies such as the US and China. Those two nations could have given significantly more money. It took a lot of convincing to get the US to give the amount that they ended up giving.

In the end, I believe that emissions can be cut, however, there will have to be a massive push from political leaders to make any significant changes. If there are no consequences for high emissions, then nothing will really change. Along with this, political leaders are the only ones who can access enough money and allocate it in their budget. Without enough funding, the cutting of emissions is only a dream.

One of the major costs for the implementation of emission reducing proposals was the fact that we, the EU, had to give out so much money. That money could have been used to assist ourselves and reduce our emissions, but we decided to give it to those who needed it more than us. One of the major barriers was the US being stubborn and only focusing on themselves and convincing the developing nations that they needed our oversight if they were to use our funds. Eventually both agreed, but it was difficult to get to that point.

We can catalyze change in the US by promoting recycling, compostable materials, and alternative energy. These changes will reduce the amount of carbon emissions because they will eventually replace the current emission spewing methods. Factories could be run on solar, wind, or water power, cars could all be electric and give off zero emissions, and the reusing and composting of materials would reduce the amount of products produced in factories and limit the amount of waste that is left over. These changes would launch the US into the direction of reducing its carbon emissions and set an example for the rest of the world to follow.

Chad Hudak – Watershed Reflection

In our Watershed scavenger hunt field trip, my group and I went around the east campus taking photos of different locations that involved water. My group was me, Ted Otto, Zach O’Connor, and Chase Ghannam. I was one of the picture takers in our group and would get out at the locations and take the picture that we needed. I also helped with directions.
I found this field trip to be very interesting because I never knew what half of the items on the scavenger hunt were. Our group also made the mistake of driving instead of walking. This made finding some of the locations much more difficult because we couldn’t leave the car to go take pictures. We had to find a spot to park before we could go do anything.
In this experience I learned that sometimes doing things the hard way (walking) is actually much more beneficial than the easy way (driving). I did use some of my skills that I leaned through Boy Scouts. It was helpful because we had to navigate through the woods for a few minutes to find where the creek merged with the Oconee River.
As a result of my experience, I will most likely take the more difficult path next time because it ends up being a better teacher.

Chad Hudak – Introduction

2. I took basic science classes in high school. I really enjoyed my biology and anatomy classes.

3. I would like to have a better understanding of the human body.

4. The project about cleaning the watershed interests me the most because I used to do creek cleanups in high school.

5. Through service learning, I hope to learn how my actions can affect the world around me.

6. In this course I would like to learn a lot more about how the human body works, genetics, and how the human body defends against illnesses.