Blog 2:
Guess what!!!! I am an older brother. I am so excited! However, my brother was diagnosed with Maple Syrup Urine Disease. My first reaction was “Yummy” and “what is that?” So my mom explained and it is not so good. I thought my brother could make maple syrup and my Mom would not have to spend money on Aunt Jemima’s. Just kidding! But that would be pretty cool. My Mom was really upset and it was hard for her to tell me the truth. Since I was the oldest, she thought I could handle the information. She told me that within the first 24 hours of Harrison’s, my new younger brother, birth, they took a “Plasma Amino acid blood test” from him. She said it is when blood is taken from the heel and is sent to the lab to determine the amino acid levels in the blood. He was positive for the disease and if it doesn’t get treated he could die really soon. I didn’t really get what was happening, but my mom told me she had been expecting this to happen because of our family history. My father and my mother are both carriers of Maple Syrup Urine Disease so it was likely that one child would receive the gene. Then she started describing the disease, but I didn’t understand half of what she said. This disease is something that is very rare. My mom said 1 out of 185,000 people get it. I asked her why that was and here is where I got confused. To quote my mom quoting the doctor “This disease is an autosomal recessive disease. For a child to get the disease he or she must inherit a defective copy of the gene from each parent. If both parents carry the MSUD gene, each of their children has a 25 percent chance of getting the disorder, and a 50 percent chance of being a carrier.” She said that since she knew I wanted a younger brother, it was worth the risk even though there was a very good chance Harrison could get it.
Guess what!!!! I am an older brother. I am so excited! However, my brother was diagnosed with Maple Syrup Urine Disease. My first reaction was “Yummy” and “what is that?” So my mom explained and it is not so good. I thought my brother could make maple syrup and my Mom would not have to spend money on Aunt Jemima’s. Just kidding! But that would be pretty cool. My Mom was really upset and it was hard for her to tell me the truth. Since I was the oldest, she thought I could handle the information. She told me that within the first 24 hours of Harrison’s, my new younger brother, birth, they took a “Plasma Amino acid blood test” from him. She said it is when blood is taken from the heel and is sent to the lab to determine the amino acid levels in the blood. He was positive for the disease and if it doesn’t get treated he could die really soon. I didn’t really get what was happening, but my mom told me she had been expecting this to happen because of our family history. My father and my mother are both carriers of Maple Syrup Urine Disease so it was likely that one child would receive the gene. Then she started describing the disease, but I didn’t understand half of what she said. This disease is something that is very rare. My mom said 1 out of 185,000 people get it. I asked her why that was and here is where I got confused. To quote my mom quoting the doctor “This disease is an autosomal recessive disease. For a child to get the disease he or she must inherit a defective copy of the gene from each parent. If both parents carry the MSUD gene, each of their children has a 25 percent chance of getting the disorder, and a 50 percent chance of being a carrier.” She said that since she knew I wanted a younger brother, it was worth the risk even though there was a very good chance Harrison could get it.
Nice. Your clarification of the daignositc test was very solid
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