Personal Narrative: A Place In My Life With Marfan Syndrome

Marfan syndrome is a genetic mutation of the FBN1 gene which codes for a protein that contributes to the connective tissue in the body and releases certain growth hormones (Callewaert et al., 2007). A mutation in this gene contributes to a variety of signs and symptoms usually involving skeletal deformations like long bone overgrowth, causing elongated limbs and spinal conditions like scoliosis and kyphosis (Callewaert et al., 2007). Retina detachment is common in those with Marfan syndrome and cardiovascular complications may include aortic dilation, dissection and rupture and up two thirds of patients develop mitral valve dysfunction (Callewaert et al., 2007). R.C. has experienced detached retinas,

My personal faith grows daily by my choice to follow my love and savior, Jesus, every day I wake up. It was by no accident that God showed me Liberty University, and has now become a top option in my choices of colleges. I believe in the deep mission Liberty University has to develop Christ-centered believers because it is the same mission I strive to live out daily in my walk as a follower of Christ. My season of life will not always be the same as someone else's, but I pray that what I have walked through and what God taught me in those seasons can give perspective to others. I have grown up always knowing God but not until my sophomore year in high school did I truly start to live that out. I took two opportunities in the past two years

This syndrome is inherited in families in an autosomal dominant manner. Since Marfan syndrome is autosomal dominant, people with this disorder can be either homozygous dominant or heterozygous. This means that people carrying even one copy of the altered gene will have the disorder. Mutations of the FBN1 gene has been linked to the Marfan syndrome, although not everyone who has this mutation develops the disorder.

Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people worldwide. Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new gene mutation on Fibrillin 1. It is imperative that nurses have a greater understanding of Marfan syndrome in order to facilitate a genetic referral for an early and accurate Marfan syndrome diagnosis. This should include the mechanism of how this

Marfan syndrome is a genetic disorder that affects the body’s connective tissue that holds all of the body’s cells, organs and tissue together. Connective tissue plays an important role in helping the body grow and develop properly throughout a lifetime. Marfan syndrome primarily affects the proteins in the connective tissue all over the body. The primary protein that plays a role in Marfan syndrome is called fibrillin-1. A defect in the gene causes poor binding of fibrillin-1 to other proteins in the body, most commonly the protein named Transforming Growth Factor Beta, or TGF-β. The excess TGF-β protein accumulates in the lungs, heart, heart valves, and aorta. Once the structure of these organs are affected, their functioning

This speaks to me because; it wasn’t easy choosing a college for me. I wanted a college with a firm belief in Jesus and a college that had a soccer program that I could play for. Now I know that with me choosing ACU, it has given me the attitude to achieve not only in God but in school. This school allows me to flaunt my purpose. I want and will show people throughout Arizona Christian University that can achieve anything I put my mind to, through God.

The event or experience in my life that will influence my academic work and goals here at Colorado Christian University (CCU) is much more than a single event. I believe that everything in my life that has brought me to CCU to further my education and pursue God’s calling: helping people.

Dramatic events have occurred frequently in my life, and some affected me more than others. Some had negative effects like from first to third grade when I was bullied because of how I talked and my last name which led to me becoming shy and less talkative. My mission trip to Kentucky didn’t just help the people we were helping, but it also helped me in different ways. The work and what I saw made me appreciate what I had here, and got me to want to help people whenever I could. During some free time when the others where away, me and 2 friends got permission to go climb a mountain that was steep and tall. On the way up, a root came out of the wall and I almost fell, but it wasn’t tall and wouldn’t have done a lot. After getting to the top, we just started walking around and there was a small hill that we went down, but when I got to the bottom it was hard to stop and I was barely able to stop before I went off the edge. That part experience helped my fear of heights for the most parts. There have also been many people that have helped me out so much along the way, but the people that have done the most has been my church family. My church has allowed me to do many things, for example, like the Kentucky trip, a trip to cedar point, a church sports camp, and other things like cloths and food. The stuff my fellowship has done for me has gotten me involved and want to help others. Those are events and people that have

Marfan syndrome is a very common inherited disorder of connective tissue. It is an autosomal dominant condition occurring one in every 10,000 to 20,000 people . There is a wide variaty in clinical symptoms in Marfan syndrome with the most occur in eye, Bones, connective tissue and cardiovascular systems.

Marfan Syndrome is a disorder that affects the body’s connective tissue. Connective tissue holds all of the body’s cells, organs and tissues together. When the connective tissue is affected it slows down growth and breaks down muscle strength. Connective tissue is also considered the glue of body because its purpose to hold all bones, muscles and joints together. It also plays an important role in overall growth in muscles and bone. A French doctor named Antoine Marfan discovered the disease in 1896. About 1 in every 5,000 children are born with Marfan Syndrome each year and it affects both men and women.

Marfan Syndrome is a genetic disorder that will affect different parts of the body through the connective tissue. The connective tissue is important because it helps you get strength to move, to have muscles, and lets blood run through your vessels, etc. The part of the body in which is most affected would be the eyes, blood vessels, and also the skeletal regions such as the spine. This can also affect what you can do in life because it can cause breathing complications (Deitz et

Marfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a protein that plays a major role in your body's connective tissue.Most people who have Marfan syndrome inherit it from their parents. If you have the condition, you have a 50 percent chance of passing the altered gene to each of your children.

I have always wanted to help people and the medical field is where I see myself being able to put that to the best use I can. I had my first child at the age of 14 and since then I have always been putting my children first. I feel that it is now my time to achieve my academic goals. Pursuing a degree as a nurse will also help me give my children a better future by setting a good example for them to follow. Colorado Christian University and the nursing programs they offer along with the online classes are a few of the reasons that I believe CCU is a great fit for myself, my family and my education. Being able to do online classes will still allow for me to keep working and providing for my young family and be able to not miss my children growing up. As I looked over the required courses that are offered and criteria that is required of a student at CCU along with the Christian background I felt alive and engaged. The Christian faith based course, I believe will also help me grow and learn in my faith while still being able to focus on my education. I can not wait to get started on my academic goals and dreams at Colorado Christian

Abstract: Marfan syndrome is a genetic connective tissue disorder caused by mutations in the FBNI1 and other genes such as TGFBR1 and TGFBR2. The syndrome affects the skeletal system, the cardiovascular system, the ocular system, and respiratory systems. Marfan syndrome has a significant mortality rate and it extremely difficult to diagnosis. The syndrome currently does not have a set treatment aside from surgery and though recent technological advancements have decreased the mortality rate, many patients are still dying. Patients suffer a poor quality of life and the demand for a cure is higher than it has ever been.

Since I was a young child, I have consistently dreamed of making a difference in my overall society and specializing in something where I am able to change the lives of others. During my grade school years, I was diagnosed as a 504 IEP student. This so called “disability” has formed me into the person I am today. I was able to look at the world differently, knowing that everyone and everything is not always perfect, and by going the extra mile while completing a task, will always get you somewhere. Dealing with my disability wasn’t always easy for me, I would often become more stressed than a typical student. Therefore I decided to participate in a daily yoga class to relieve stress and find comfort within. Although I eventually acquired skills