My Friend Bill- The effects of Hemophilia

Hemophilia

Jamie Won and Alsharief Abdoalrhman


M
y friend Bill was born with hemophilia. His fathers side of the family has a history with the disease, and it was no surprise that Bill has inherited the disease. I don’t see him very often, he usually has to go to replacement therapy. He suffers from chronic muscle atrophy and contractions  He loves to play sports but is unable to, fearing the fact that if he were to get hurt and start bleeding, it wouldn’t stop for several days at a time. There were also times when he starts bleeding internally for no reason whatsoever, so it’s a good thing he leaves close to the hospital just in case of such an emergency. There’s also the slightest chance that he might develop intracranial hemorrhage, which could cause blood to pressure up into his skull. This has already happened once before but thankfully he just lost consciousness and woke up later. We were all scared of what would happen to him, but he just kept on smiling and told us “Don’t worry about me, I’ll be fine.” 

The disease, as told by the doctor who diagnosed Bill as a child, is caused by the 23rd chromosome. The disease lowers the blood plasma clotting factor for normal blood clots which means that when Bill starts bleeding, he doesn’t start bleeding harder, he starts bleeding longer for more periods of time. 

Because of his replacement therapy, Bill was less able to hang out with his friends, and eventually they drifted apart from him, leaving me as his only friend.  It makes me upset that they would treat him like that and there is nothing I can do to help.  Bill has severe hemophilia and spends a lot of time in replacement centers in order to prevent bleeding episodes before they happen. Other than that, we still do the things that usually do. We hang out, play video games, and talk about school and life in general. One time, I visited Bill at one of his replacement center sessions. His birthday was coming up, so I bought him a pet parrot since that was his favorite animal. He was so happy when I got it for him, but when I passed the cage to him, he dropped it and the bird got out. It flew 5B_hemophiliaaround the center, yelling fragments of speech it learned from the nearby people who were shouting. While everyone was panicking, Bill and I were just laughing in the corner. Even through the struggles of Bill and his case of severe hemophilia, there are moments I realize that Bill is still Bill, my best friend and partner in crime.

Colorblindness-Hunter and AJ

nmeth.1618-F1Color Blindness
My friend John has recently been diagnosed with colorblindness. He was at the doctor the day prior to today and took a sight test. He failed because he couldn’t see several common colors like red or yellow. The doctor said it was a lifelong condition that he acquired from his father’s genes. The doctor also said it was a chromosomal disorder of the 23rd chromosome.

Because of his condition it is not possible for him to become an artist like he always dreamed of becoming. He also finds it hard to come by a job working in electronics because of the various colored wires going to various different mechanisms within the machines. He is also often criticized within his school because of situations that require him to be able to distinguish between different colors. Also, because of his inability to see certain colors he has trouble distinguishing some signs on the road when driving. Luckily the signs he can’t distinguish are readable without the ability to see certain colors.
He found out there were no treatments but was told by a doctor that he could get special contact lenses that help him with seeing certain he can’t usually see. He ordered them and said they were worked perfectly and is coping with his disability easily.

Albinism- Ellie Canning and Josh Westhoven

Rasputin has albinism. This is a disorder that has affected him since birth. If you don’t know what albinism is, it is a genetic disorder in the eleventh chromosome that causes the body to not produce enough of a pigment called melanin which would color the eyes, skin, and hair. It can affect parents and children of any race. The symptoms are pretty apparent- very pale eyes, eyelashes, skin, and hair resulting from a lack of pigment. Luckily, albinism doesn’t cause any immediate life threatening risks. Eyesight, however can cause problems, because there is not enough pigment in the retinas to reflect the sunlight and they would be blinded in bright light. There is a popular belief that albinos have red eyes, but most human albinids have blue eyes. He has predictably blue eyes, and for now wears glasses. Those affected by albinism will most usually need visual aides of some type. So far Rasputin has been fine with reading glasses, but if his eyesight becomes more affected, he may need prescription reading glasses, or contact lenses. The only other possible risk is their skin, which is easily sunburned, which could lead to potential skin cancer. Rasputin has very fair skin and is very susceptible to sunburn and we have to be careful to make sure he wears sunscreen and appropriate clothing to protect him.

There is no specific treatment, but coping with albinism means making only slight adjustment to your lifestyle.

The main point of this entry though, is to talk about what is currently worrying us is the fact that not everyone can accept someone with the flaws they might have. Specifically, the classmates at Rasputin’s new elementary school. Children can be surprisingly mean to others that look different or aren’t what they’re used to. When Rasputin started kindergarten, none of the other kids questioned his different appearance because none of them had enough experience to know he was different. However, Lil’ Raspi is going into third grade at a new school where he doesn’t know anyone and will be the “new kid”. We’re just not sure how the other students might act towards him. The other kids might bully him just based on how he looks and he may not be given a chance to be included in any of the groups there. Because the kids at his old school have been so kind and accepting to him, Rasputin has grown up with a kind, outgoing personality and we want the other kids to see that in him rather than the fact that his hair and skin are lighter than theirs.

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Escobar_Lawrence Cystic Fibrosis

        I never knew how much life meant to me until the day I got diagnosed with Cystic Fibrosis. The simplest things in life that we take for granted, such as breathing, became one of the hardest things I had to live with.

        On March 15, 2005, I was diagnosed with this life-changing disease, Cystic Fibrosis. I originally went for my annual check up, but I told him of some previous symptoms such as having trouble breathing and issues with digesting food. He had a curious look upon his face and said it sounded like the symptoms of Cystic Fibrosis. He then went on to test me. I had to jog in place for several minutes so I could start to sweat. Then he tested the salt levels within the sweat. After several long minutes of waiting, he came back with the DNA testing, and he diagnosed me with Cystic Fibrosis.

         All I could think about was how this was going to change my life and how it was going to be okay. The doctor told me that their were many treatments for Cystic Fibrosis such as: antibiotics, inhaled medicine, enzyme therapy, oxygen therapy, lung transplant, diets, pancreatic enzymes. He then also told me of many treatment centers including: CF Foundation, CF Pulmonary Research and Treatment Center. He showed me a research link so I could learn more about it, http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001167/ These centers could help me learn more about this disease and could help me cope with living with it.

        By going to these treatment centers, I learned many facts about Cystic Fibrosis. Cystic Fibrosis is a gene mutation of chromosome 7, which is most commonly affects Caucasians  It is passed along the recessive genes of your parents. I also learned of the long term effects such as: delayed growth, mucus buildup, and lack of nutrition.

      Since then, I have learned to live with this disease. I have learned to not let it get in the way of living my life.

Klinefelters_Circeo_West_Roberts

Recently, my friend Kyle was diagnosed with Klinefelter’s syndrome. This is a very serious matter. There is no treatment for Klinefelter’s but, Kyle is alright with that. It is not a fatal disease, but it is possible to be able to live with it. Kyle wishes not to get sympathy or money to help him live with his disorder; he only wishes that I write to the world informing them more about Klinefelter’s. Here is his story.

Kyle realized early on in his life that his body proportion was abnormal. Ever since he was a little kid he was always above average in his height compared to his friends. Then when he was 9, he saw that his widow’s peak was strongly defined. Then the  difference in the size of his arms started to affect his daily life. I told him that he might want to go see the doctors. After seeing a series of doctors, his physician finally recommended that he go see a genetic counselor. He was put through a series of blood tests for hormone levels. The counselor then diagnosed him with Klinefelter’s syndrome.

Klinefelters Syndrome is a chromosomal disorder that affects only boys, making abnormal body proportions, infertility, height, and lessening of the hair. Kyle then went to a therapy session at Johns Hopkins Klinefelter Syndrome Center to learn more about what his disease was all about. The doctor explained that Klinefelter’s syndrome was when you have an extra X chromosome. This would make him have 47 chromosomes total instead of 46. He also learned that he could not do anything to fix his disease; he was just going to live with it.

I went online to see if there was anything I could do to help and I learned some interesting facts. One out of 500 males are diagnosed with Klinefelter’s, and the only way to find out if you have it is to have blood test and a karyotype. I also learned that the syndrome can not be inherited, but it is caused from an error in the division of the sex cells. This extra chromosome may not seem like a big deal, but later down the road it is lead to cause some major problems. Men with Klinefelter’s are more likely to develop breast cancer later on in life. Children with Klinefelter’s may have learning disabilities and delayed speech and language development. They tend to be quite, sensitive, and unassertive, but personality characteristics vary among affected individuals.

Turner’s Syndrome

Turner’s Syndrome

Usmann Malik and Emilie Saksvig

Period 7


Turner’s Syndrome is a genetic disorder was randomly introduced into the family line when my grandfather was born and the disorder was passed down to my aunt.  She often takes many trips to the hospital for check-ups, and her life is deeply affected by this disorder, both socially and emotionally. Aunt Andy, who is 40-years-old, has lived her entire life with Turner’s Syndrome. I have recently started to learn more about this disease and discovered many interesting things about it.
Turner’s Syndrome only happens to women.  The disease occurs when the cells are missing all or part of the X chromosome.  Sometimes the female has only one X chromosome (which is what happened to my aunt, Andy), or they have two, but one of them is incomplete.  This occurs in the 23rd chromosome.  My aunt, who suffers from Turner’s, is about 4 feet and 6 inches tall, for she never correctly went through puberty. If she had been treated properly with growth hormones and estrogen in her childhood, maybe she would have grown to her full size. This syndrome also has made her slightly obese, and she has many learning disabilities (including ADHD) as well. As you can see, my aunt is seriously affected by this disorder, and the doctor said that it is already too late for her to receive any treatment regarding her size and intelligence, but their intelligence and size could be slightly increased with special instructions and hormones.

The symptoms below indicate if you do or don’t have the disease:

Symptoms
– Low set hairline (back of the head) and low-set ears
– Slight Obesity
– Short stature
– Learning disabilities
– Amenorrhea (no female menstrual cycle)
– Broad chest and spaced nipples
– Arms that turn outward at the elbows
– Puberty is stalled or never begins

I have not suffered from the syndrome, but since a lot of my family has, I feel obligated to share information about it to the public.  

When doctors test for Turner’s Syndrome, they make a karyotype with a sample of the patient’s blood.  
The types of treatment that the patient’s might use are hormone replacement therapy and they also may be given very small doses of androgens with are male hormones that are produced by the females in small dosages.  This increases the female’s height and muscle growth.  No one in my family has went through this process.  My aunt was thinking about it, but she went against it and just went through hormone replacement therapy instead.  

I know that whoever is reading this knows someone who is or is someone who is going through the life of having Turner’s Syndrome.  You may feel like you have no one sometimes, but you do.  

If you ever need to talk about someone about this:
Contact: Sarah Shutt
Telephone:
(804) 5235537
Email:
sshutt123@gmail.com

below is a karyotype of what my aunt’s 23rd chromosome looks like 

The picture below shows the size comparison of
Aunt Park to other females in her family⇓

Muscular Dystrophy – Michelle Siewers and Annie Pericle

A couple years ago, my son John was diagnosed with Muscular Dystrophy. We went to the doctor when we noticed some symptoms such as: fatigue, numbness, pain, and depression. The doctor diagnosed it by taking a test and looking at his twenty-third chromosome which was affected by the genetic disorder. Over the year, his muscles have gotten very weak. He has sleep issues, has a hard time swallowing, and has walking issues.

musculardysWhen we found out about his diagnosis, we were devastated and shocked that our little boy had such a severe disorder. This genetic disorder has taken a huge toll on our family. John was very upset also. He has had to quit all of his sports and stop most of his activities outside of school. Not only that, but financially, it has been such a struggle. Every month my husband and I have a very hard time paying the bills.

When the doctor told us there was no cure, we were very upset. We wanted to do anything we could to make our son better. With some research, we found a treatment center that worked with Muscular Dystrophy. Immediately, we decided to move near the John Hopkins Treatment Center. The move to Baltimore was very hard on John. He had lived in California all his life and his childhood friends all lived there. It was also very tough on the family emotionally and financially.

muscular_dystrophyEven though there is no cure, John has been taking medications that have slowly helped with his disorder. Since Muscular Dystrophy is sex-linked, most of the patients are boys, so John has been able to make a lot of friends at the center. Even though John has this genetic disorder, he is still able to go to public school, but often has to leave because of his muscle problems. Through the help of the treatment center, John has gotten a lot better. Without their help, John could be suffering a lot more.


Katherine Brown

Dwarfism by: Sara Morin and Brendan Fisher

Hey Everybody

About a week ago, I received the unfortunate news that my nephew was diagnosed with Dwarfism. Dwarfism is a genetic disorder, so lucky for all of you reading this; you can’t “catch” this disorder. After talking to my mother and other family members, I learned that my Uncle Tim, whom I have never met, lived with dwarfism for almost 60 years. This explains where my nephew received this disorder because neither my sister nor brother in law has dwarfism. So, if you ARE living with this disease, I am here to give you the facts, and help you cope with living with this disorder.

Dwarfism is caused by a genetic mutation in the fibroblast growth factor receptor. It is a gene mutation, not a chromosomal mutation. So, you would not be able to tell if you had this disease by looking at a karyotype. This is because dwarfism does not affect your chromosome count, however; it does affect the DNA in your chromosomes. The mutation is on one of the genes in the 4th chromosome. It is an autosomal mutation, which means it does not occur on your sex chromosomes or the 23rd set of chromosomes. In addition to this, it is a growth hormone deficiency mutation. This means that the carrier of the disease was lacking in growth hormones when they were born and developing.

         Anyone who has a history of this disease in their family is at risk of this disease. Like my nephew, he was not directly linked to the disease (meaning it did not come from his parents), but he still had a risk of it. Heck, I was at risk of it! This mutation is more common among people in the United States, New Zealand and Canada. There are also two main types of dwarfism –proportionate and disproportionate dwarfism.

There are many symptoms of these two types dwarfism and usually are detected at a very early age. Symptoms of proportionate dwarfism are height below the third percentile on standard pediatric growth charts, growth rate slower than expected for age and delayed or no sexual development during adolescence. Symptoms of disproportionate dwarfism are more extensive however. An average-size trunk, short arms and legs, short fingers, limited mobility at the elbow, a disproportionately large head, with a prominent forehead and a flattened bridge of the nose, progressive development of bowed legs, progressive development of swayed lower back, and an adult height around 4 feet are just a few symptoms.

Doctors can tell almost immediately whether or not you are diagnosed with dwarfism. They can tell by physical appearance, gene tests, family history, and x-rays of your bone structure. Unfortunately, there are currently no cure for dwarfism. However, you can get surgery for any bone problems that often come with dwarfism. Also, you can undergo hormone therapy, depending on the severity of the dwarfism. To help with the pain of dwarfism, there are orthopedic treatment centers available almost everywhere! So in no way, shape, or form will you ever be alone while battling with this disorder.

If you are still curious about dwarfism after reading this blog post, then there are plenty of other resources. I found that The Mayo Clinic has the best information on almost anything to do with the medical field. They should really help you a lot in your research. Also WebMD is another reliable resource.

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Resources:
Mayo Clinic
WebMD

Color Blindness by Ben and Varshaa Block:7

My name is Brick Johnson. I cannot tell the difference between red and green. Sometimes, I can only see black, white, and grey. I noticed these problems were bad. I knew I should get help. So, I went to get diagnosed at The Treatment Center called The Palm Beaches. It was a type of test in which you look at colored dots. During this test I told the doctor what I saw. This helped the doctor determine which colors you are having trouble seeing. They made me take another test where I arranged colored chips accordingly to their similar colors, and people with color blindness can not arrange the chips correctly.

After researching about my disorder, I found that men are at risk more than women. I also found that color blindness is hereditary. So, after I checked my family history, noticed that my grandmother had color blindness, I then understood how I got it. The disorder got carried down to my mother from my grandmother as a hidden trait. I got it from my mother so, I concluded that this disorder is sex-linked. This inversion mutation affects the 23rd chromosome.
I have been looking for treatments. I can do gene therapy, wearing light filtering lenses (helps see colors I can’t see by letting my lense absorb the colors instead of filtering it.) , or I have to learn living with colorblindness with the rest of my life. Resources I recommend to read are:
* http://www.webmd.com/eye-health/tc/color-blindness-topic-overview
* http://www.colour-blindness.com/
* http://colorvisiontesting.com/
* http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001997/

Color Blindness:

Huntington’s Disease, Jonathan Brat and Grace Blanton

Huntington’s Disease

A few months ago, my Dad was diagnosed with Huntington’s Disease. Over the summer, he realized that his body would involuntarily move, and would sometimes have strange tics happen with his muscles at random. Not only did it cause spasms in his limbs, but it would also cause him to have slurred speech and difficulty eating and swallowing. He decided to go to the Southern New Jersey Regional PKU Center and underwent some neurological and psychological tests. A genetic test was also conducted to find if he had inherited any disease.

The results came back, and he was astonished to find out that he actually had Huntington’s Disease. This is a trinucleotide repeat disorder in the fourth chromosome that affects the brain and how it functions. Even though it came as a surprise, it did explain his unusual jaw clenching, teeth grinding, and muscular contractions. He would sometimes lose coordination and balance, and end up stumbling or occasionally even falling. Apparently he got it from his mother. This made sense since the gene can be passed on autosomally. It also made sense that he hadn’t realized these abnormalities before, because the disease usually starts to affect a person in their thirties or forties.

This diagnosis was very hard for the entire family, since Huntington’s is such a serious and life threatening disease. In fact, most people die fifteen to twenty years after they are diagnosed. With that in mind, we must deal with this tragedy in the best way possible.

Every day, my dad takes a variety of medicines to help lessen the disease, but none can fully cure him.  Along with medication, he goes through many types of therapy.  He attends psychotherapy, speech therapy, physical therapy, and  occupational therapy.  His case is very severe, and he goes to at least two different therapies a week.

It was hard for me to see him suffer, and realized I needed more information on this disease to help me be there as much as possible for him.  Although many websites offered great facts about Huntington’s Disease, I found a website that helped me learn how to cope with my dad’s condition while learning more about what he is going through at the same time.  This website is can be found at www.hdsa.org.

Since my dad has this disease, that means that I have a fifty percent chance of inheriting the disease as well. Now that I know about the symptoms and effects that this disease can have on me, I will be better prepared to face any problems that may arouse in a few years when I become middle-aged. When I researched this disease, I found out that I can use In Vitro Fertilization when getting a genetic test to make sure that my children do not also have this life-threatening disease.