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.