Genetics Essay, Research Paper My Dearest Susan, I don?t know how to write what I am about to write. There is no easy way to do this. I am not one to be able to put his feelings down on paper. You know that. I am sure you know what this is about. We have not been able to go more than 10 minutes together without bringing it up.
Genetics Essay, Research Paper
My Dearest Susan,
I don?t know how to write what I am about to write. There is no easy way to do this. I am not one to be able to put his feelings down on paper. You know that. I am sure you know what this is about. We have not been able to go more than 10 minutes together without bringing it up. I feel as if I need a break from the arguing. So I decided to write this letter. Rather than yell and get distraught, I?ll let you read exactly how I feel and you can write me back, in response. I don?t want our emotions to get in the way of us making such a monumental decision not only in our lives, but also especially in the life of our son, Michael. We need to base our final decision on medical facts and do what we feel is in the best interest of Michael.
What exactly does Michael suffer from? That?s where we need to start this discourse. Of course we know that he has the disease called Duchenne Muscular Dystrophy. This disease is a debilitating illness that occurs in about 1 in 3,200 live male births. Michael just happened to be one of the unlucky ones. Usually a child is not diagnosed with DMD until he is between the ages of two and six. We were lucky to find out early that Michael was affected. The only reason that we knew so early on was that Muscular Dystrophy runs in your family. This early detection was a blessing as we have been able to provide Michael with the best treatment and environment to grow up in as possible. If a curte should ever be found, Michael will be in the right place to receive it. Also, he now receives adequate attention to help him with the psychological, physical, and social problems he may encounter in having this disease.
As we both know Duchenne Muscular Dystrophy is a recessive ?X-linked? recessive disease. You carried the defective gene, which is located on the X chromosome, and it was transmitted to Michael. He became affected because he only has one X chromosome. There was not another good copy of the gene to counteract your mutated copy. This ?bad? gene prevents Michael from producing the protein called ?dystrophin?. Without this protein, muscle fibre breaks down and is unable to function properly. This is NOT your fault honey. There is nothing that could have been done to prevent this. There was a fifty-fifty chance that Michael was going to be born with the disease. We are lucky enough to have wonderful doctor that did the test to check on Michael. His elevated blood level of muscle enzyme was detectable when he was born. This led to the conclusion that he was affected with DMD. We found a specialist whom has helped us to the best of medicine?s ability. Michael is living his life as close to a ?normal? child?s as possible.
Remember all the times that Michael would try to walk but couldn?t? Aren?t you glad that we knew to expect that? We knew that, like most children with DMD, Michael wouldn?t be walking until about eighteen months old. It would have been awful to not know why our child, our first and only child, wasn?t walking when most other kids his age were. That would have been devastating. Can you imagine not knowing what was wrong? There would have been so many questions going through our minds. Is he retarded? Is he stupid? What the hell is the matter with him? But having such a wonderful doctor made us so much more at ease with this problem. Michael isn?t dying from DMD, he?s living with it. I know that much of what I?m writing is stuff that you already know, but I?m doing it to make us both think about it more.
Right now Michael is doing very well. He is just starting to have his share of problems. He is just beginning to waddle a bit and fall quite a lot. He also seems a bit awkward when walking around. And I hate to see when he is having difficulty rising from a standing or lying position. It breaks my heart. I wish it was me in his place. Why does Michael have to be the sick one? I would do ANYTHING to trade places with him. Michael has such a bright promising future ahead of him; one which he?ll never get to see. It sad. I?ve already been there and don that. I don?t have much to look forward to, especially when we lose Michael. Most children with DMD live only until they are in their late teen years or early twenties. I want the best for Michael. I will do whatever it takes, both emotionally and financially, to see that he gets the best. I want him to have both the best treatment and best opportunity to live his life to the fullest extent. I know this is what you want too.
Eventually Michael?s muscles will be so weak that he will have to be in a wheelchair. Eventually his major joints will be almost impossible for him to move. Hi spine will begin to curve and his lungs will become more susceptible to respiratory infections. As it becomes more and more difficult for Michael to walk, there are surgical procedures that can be done in order to help him. Also, plastic leg braces will help. Michael should be able to able to live productively and as normally as most children, but while realizing his limitations. We have to set expectations for Michael. But while doing this, we must also not become over-protective. We have to let him do things that will gain him recognition and approval of other people as well. Many children with muscular dystrophy are able to attend high school. Some even attend college and pursue careers after graduation.
When Michael starts to ask us about his disability, we have to be realistic and honest. But we also have to be optimistic and look towards a bright future. He will be able to participate in sports and other physical activities as long as his strength permits. Most children with muscular dystrophy participate in water sports. The buoyancy of the water makes it much more possible for the children to support their weight and move around. There are also other activities such as wheelchair hockey, chess, and stamp collecting that many kids with muscular dystrophy can enjoy.
Susan, there is not much that can be done for Michael. There is no cure for DMD. We have only two options. One is to let Michael just go through the progressive stages of the disease. The second option is to try the new experimental treatment that Dr. Smith introduced to us. The first option would mean that Michael would progressively get weaker and eventually lose his life, around the age of twenty. I DON?T want him to die! I know you don?t either. This new treatment called gene therapy is untested and we don?t know if it would even work. But what else is there to do? I feel as though this is our best option right now. There is nothing else. We have to do what is in Michael?s best interest. I feel that this is in his best interest.
The type of gene therapy that Michael would undergo would replace his missing gene. This would cause the protein dystrophyin to be produced. His muscles would therefore regain, slowly, but surely, their strength. This of course is what would happen in theory. It has yet to be tested so we don?t have any results to base this on. Can you imagine the day that we don?t have to think about Michael not walking or never turning 21, or even having kids? Wouldn?t that be a wonderful thing? It would be the happiest day in our lives. Michael wouldn?t be ?sick Michael?, he would be ?Michael?. No more doctor visits or tests. I hate when they do those tests to him. I know that Michael is confused and doesn?t know what is going on to him. He must be hurting sometimes too. But he is such a great kid! He never whines or complains when people are poking or prodding at him. He is wonderful!
I can envision the day that the he goes in for his gene replacement procedure. He will be so afraid, as will we. We won?t know what lies ahead. But does the road ahead now look that much better than not knowing at all? We?ll say our goodbyes to Michael and he will go in and have his procedure done. When he comes out he will look the same. But then, little by little, he will get better. It may take weeks, months, or even years, but it will be worth all the waiting. This procedure will get us to wait for something other than Michael?s death. We can wait for him to get well. Doesn?t that look much more appealing than our other option?
The only problem with gene therapy is that it is currently untested. We have no firm data to say that this will work the way it is supposed to. I guess it could hurt Michael, and I don?t want that. But think of this as Michael?s, and our, way of helping the research towards a cure for DMD. If his gene replacement therapy works, think about the repercussions it will make in the world. Many millions of people will be able to be cured of this disease. It will be the greatest thing that we could ever do. Michael would want it to be that way too. He loves to help people. You saw him the other day when the little girl fell over and he reached out his hand to help her up. I know he didn?t actually help her, but it was his thought that counted. He would love to help people by being a pioneer in this gene replacement option.
You see Susan; I love Michael more than the world. I know you feel exactly the same way. We can?t just sit her and let him whither away when there is an exciting new option that could possibly cure our child of his illness. We must do something. I think this is the best option we have. What else is there that we can do? Nothing. Let?s talk to the doctor and give him the okay to go ahead with the treatment. I know you want what?s best for Michael too.
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