FREE ESSAY ON GENETICS

GENETICS

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.