Bibliography

• "Myotonic Dystrophy - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. Nov. 2010. Web. 11 May 2011. <http://ghr.nlm.nih.gov/condition/myotonic-dystrophy>.
• "Facts About Myotonic Muscular Dystrophy | MDA Publications." Welcome to MDA | Muscular Dystrophy Association. Dec. 2009. Web. 11 May 2011. <http://www.mdausa.org/publications/fa-mmd-qa.html>.
• Balon, Denise. "Myotonic Muscular Dystrophy (MMD) - Welcome to MDA | Muscular Dystrophy Association Helping Jerry's Kids." Welcome to MDA | Muscular Dystrophy Association. Web. 11 May 2011. <http://www.mda.org/disease/dm.html>.

Family Pedigree

          As you can see, only my mom's side is affected by Myotonic dystrophy. It was passed from my grandpa to my mother, then to Phil. Since the disease is autosomal dominant, you can not be a carrier without being affected. In other words, if you have one dominant allele, you have the disease. (Everyone in my family who is affected is Heterozygous for the gene). My mother is affected and my father is not, meaning that 50% of their offspring (Phil and me) would be affected. Luckily, the disease does not go to the extent that Phil would be unable to have children. If Phil married an affected individual that is heterozygous for the gene, 75% of their offspring would be affected; if Phil married an affected individual that is homozygous for the gene, all their offspring would be affected. However, Phil married an unaffected female (giving it a 50% chance), and we are fortunate enough to say that the disease is terminated in our family because Phil's only child is not affected. Now, the only way Myotonic dystrophy can return in my family is if Phil's child marries and affected individual. I'm happy that this disease is autosomal dominant rather than autosomal recessive, because I do not have to worry if I'm a carrier and if my children will have the disease...I simply know that I do not have the disease, and neither will my children, unless I marry an affected male. Hope this pedigree clears up how the disease is passed down!

Pictures

affected internal organs

affected muscles

The Big Day

August 2015

            Hi everyone, sorry it’s been so long. A lot has happened. Firstly, Phil’s getting married today! He met his fiancée in school, and she is very understanding towards his condition. The family loves her! When Phil was stressing about having children, she comforted him by printing out an article showing how researchers are working on prenatal diagnosis to make sure that none of their children are affected.

            As my brother walked down the aisle his lightweight plastic braces had turned his waddle into a proud strut. He cleverly covered his receding hairline with a kippah. I never thought I would see my parents so proud. However, Phil knows that he will always have to make compromises for his disease. For example, in the receiving line, he made sure not to give anyone a strong handshake. In spite of this, the joy of Phil’s wedding erased years of my fears and brought me to a realization that my brother has had, and will continue to have, a great life. 

Walking Troubles

June 2011

            This morning, I was casually eating my cereal as I saw Phil waddle down the stairs, clutching the banister for support. I dug up the book to see what other things might occur in addition to his having trouble walking. For a second, I pessimistically thought that things could only get worst (luckily I was wrong). While reading the book, I realized that myotonic dystrophy does not only cause muscle weakness but also cataracts, premature balding, heart problems, diabetes, and in more severe cases, mental retardation. I looked through my mom’s phone book to find the number of the doctor that helped us about three years ago. When I got hold of her, she assured me that if these things were to occur, they would most likely have happened already. She further explained that balding could happen in time, but that isn’t anything dangerous, just unfortunate. One symptom that might progress over time is the ability to easily walk and grip things…but it would slowly progress over the span of about 50 years, meaning Phil should have plenty of time to live his life. I was so relieved to hear this!

The Peanut Butter Jar

April 2010

         Last night when I was walking past Phil’s room, I heard laughing him on the phone with one of his friends. Phil was telling his friend that the 5 year-old boy he was babysitting was able to open the peanut-butter jar that he could not open. Even though he was joking about it, I knew that Phil was humiliated and frightened. Up until today, I don’t think he fully grasped the idea that he was becoming weaker and weaker. 

Now and Then

April 2010

         Before I knew it, Phil’s cheeks began to look droopy. The book the doctor gave me said this might happen. It didn’t bother me too much until one day I came home and saw that our school pictures had come in. They were on the refrigerator next to our pictures from last year. I don’t know why, but I instantly began to cry. Last year, Phil’s smile was bright and joyful; he truly looked happy. However, now his smile was barely full…it wasn’t that he was unhappy, it’s because he physically wasn’t able to smile. The mere fact that he wasn’t able to smile properly told me he was developing facial weakness and this troubled me so much. 

Baseball

March 2010

            Sorry it’s been so long since I’ve last written. I guess its because not much has happened up until now. Phil is about 17, and the symptoms of the disease are starting to kick in…

            Phil has always been a star baseball player. Just last week at one of his games, he hit the ball way into the outfield, yet when he began to run he couldn’t seem to let go of the bat. The referee said he had to be called out because you’re not allowed to run with the bat. My heart broke when I saw Phil’s face, but of course he wouldn’t show weakness. He feels he has to play the role of an emotionless teenager. Then again, I should have seen this coming…the book did say that finger muscle stiffness is a common and early symptom. 

Bad news

April, 2008

            My parents got a phone call from the doctor’s office and sat Phil and me down to give us a talk. I could see my mom had tears in her eyes as my dad began to explain our situation. He told us that our mom has Myotonic dystrophy, but it is such a mild case that she didn’t even notice up until now. This was nothing to worry about. Yet on the other hand, Phil was diagnosed with it as well. I could tell on the inside Phil didn’t know how to react; on the outside he did what any other 15 year old would do…pretend as if nothing was wrong.

            I opened the book that the doctor gave me.  I flipped through the pages until I reached one that read: THE CAUSE. I learned that this whole disorder happens from a recurring section of DNA on chromosome #3 or chromosome #19. The doctors and scientists don’t yet understand how the genetic mutation causes the disease. I just couldn’t grasp how something so microscopic could so drastically change one’s life. 

My birthday surprise

March, 2008

            Today is my birthday (if you couldn’t already guess from the title of this blog)! Unfortunately, birthdays in my family meant we took a trip to the doctor’s office together. Even thought its supposed to be just the one person who gets the yearly check-up, my parents just love to get an extra check-up here and there. When we arrived, the doctor smiled and said, “So you’re the birthday girl!” She greeted my parents and shook my brother’s hand. A strange look appeared on her face, and she asked my parents if she could talk to them in private.

            Then she took my brother into a room, which made me a little upset. Why should he get all the attention on my birthday? About 10 minutes later, we all went into a room and the doctor started explaining to us about a disease called Myotonic dystrophy. I felt so smart because I knew what she was talking about! She then informed us that she fears my brother Phil has it. This made my happy birthday mood quickly change to a worried one. She continued and said she can usually tell just by a handshake because affected people take longer to loosen their grip. Just to be sure, they would perform electromyography on both of my parents. This meant that the doctor would place a tiny needle in the muscle and listen for myotonia, which sounds like a plane crashing. Then for Phil and me, the doctor took blood so she could examine the DNA and determine whether he had it and if I was possibly affected, too. She said that these were the current diagnostic procedures that replaced the need of a muscle biopsy, much to our relief. She told us that the disease affects one in eight thousand people, and it is common. The test results would come in about a month, and in the mean time we should go to her for any questions or concerns.

            Before I left, the doctor attempted to reach out to me by handing me a book titled: “Everything you need to know about Myotonic dystrophy.” This wasn’t the present I was expecting today…

Just a regular day

February, 2008

            Today in 7th grade Biology we learned about Human traits and diseases. We learned how they can either be autosomal recessive, sex-linked dominant, sex-linked recessive, and what I found most interesting: autosomal dominant. For autosomal dominant, my teacher conducted an experiment where my whole class performed PTC tasting. I found out that I’m dominant for the gene because I tasted it, and it was gross! Anyway, we also learned about autosomal dominant diseases, like Huntington’s, Achondroplasia, Myotonic dystrophy and a few other ones. I wasn’t so sure why, but Myotonic dystrophy stood out to me the most. Maybe it was because it wasn’t as tragic and deadly as the others and let people live their lives for the most part.  It is a disorder that affects muscles and eventually causes weakness and shrinkage of the muscle tissue. It also affects the brain, eyes and other organs. The person with the disease typically has a hard time relaxing their muscles and letting go of a tight grip. It usually doesn’t affect the person until teenage years or even adulthood, and allows most people to easily walk around for a good portion of their lives.

            I came home from school and got the usual insult from my older brother. This time he told me I looked geeky holding all my schoolwork. I didn’t let it bother me and instead rushed to show my dad the notes I took in class today. I was so excited with this new topic and I knew he could further explain it to me. He told me that my grandfather coincidentally had a mild case of Myotonic dystrophy. Maybe that’s why it stood out to me over the others!

TEST 1

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