Tag Archives: muscular dystrophy

You’ve Been Invited!

17 Aug

Its quite ironic how things play out in my life.  It seems like things always fall into place when I need a miracle to happen.  Like when I’m lonely and I get invited to five things at once.  Or when I’m broke and I get commissioned for an art piece.  And like recently, I’ve been dealing with the next stage of being a disabled woman.  And while I’m looking for answers for my future, something I never expected takes place.  I have been invited to participate in a clinical trial for Congenital Muscular Dystrophy (CMD) through CMD International Registry (cmdir.org).

“Definition of CMD: A class of muscular dystrophies that show themselves  at or near birth. Muscular dystrophies in general are a group of genetic, degenerative diseases primarily affecting voluntary muscles.” -www.mda.org/disease/cmd.html

What is Muscular Dystrophy

Gene Discovery in Congenital Muscular Dystrophy:

Purpose of the study: Dr. Peter Kang and his laboratory at Children’s Hospital Boston hope to identify new genes that cause congenital muscular dystrophy (CMD), using modern genetic tools such as linkage analysis and next generation sequencing. This study is a component of the Harvard Neuromuscular Disease Project.

Eligibility: Patients with CMD and their family members who do not have a genetic diagnosis known to date. Special attention will be paid to individuals who have already been screened for one or more of the genes known to cause CMD, but others will be considered on a case-by-case basis. Enrollment from outside the United States will be considered on a case-by-case basis.

Participant commitment: Individuals must be willing to provide family history, medical history and a saliva or blood sample from which we will obtain a source of DNA. Enrollment can be done in person or by phone with the study coordinator/genetic counselor. . Additionally, we would like to obtain a portion of muscle tissue from a previously collected muscle biopsy or from an upcoming clinically necessary surgery. A biopsy procedure to participate is not recommended. If no muscle tissue is available , enrollment will be considered on an individual basis. All research participation may be done remotely, and no travel is needed.

Benefits of participation: Participants should not expect a direct benefit from participation in this study. Participants will be contributing to research, education, and possible discoveries in the genetics and therapeutics of CMD. Participants have the option to have their individual results confirmed through a local health care provider. The cost of conformational genetic testing is the responsibility of the participant and/or their insurance company. If participants choose not to learn individual results, study results as a whole are always available to any participant. All participants will receive a yearly newsletter to keep them updated as to study progress.

I’ve always known my body was better used for research, rather then my personal canvas to tattoo.  I’ve known for the longest time that if I were ever to be offered a spot in a clinical trial, then I would consider it immensely. Lately I’ve been having mixed emotions about my disability.  I’m sure those who are disabled will agree with me when I say that being disabled is a blessing and a curse.  I have never wished for a cure because I am content with my life, even through the hard times.  I won’t lie and say I don’t have my days where I wish I didn’t have to ask for help and do things myself, but I have more moments that are filled with happiness and love rather then depression and anger.  If this trial were to give the researchers more facts to hopefully better the lives of the next generation or give my family members, like my two older brothers answers about their concerns in having children of their own, then I would proudly be a patient.  But, I would not go into it expecting to gain my strength back or be able to start running marathons.

What my muscles look like

About two years ago I decided it was time for me to write up a will and sign a DNR.  At the age of eighteen, this was a lot to take on.  But, I did it on my own and was not coerced into it.  I’ve always told myself that when times get tough, I do not want to be resuscitated or put on life support.  This is my choice.  It was a hard choice and even harder to admit it to my parents that their little girl has made that decision without discussing it with them.  But, life is hard enough on them and myself with the limitations I face now, I cannot image being in a worse state.  The next decision I had to make was what to do with my body once I pass.  Sure, you could burry me and visit my burial once a year and then go one with your life, or I could donate my organs to those who need it.  Doctors have told me that my eyes were perfect for a blind person in search for a donor, but the rest of my organs are probably to weak to do anything with them due to my disability.  So, the next choice I made was to donate the rest of me to research.  If I can continue to change the world once I am gone, then that is the greatest thing to know.  It doesn’t make death look so bad.

I don’t do anything for myself when it comes to research and my body.  I immediately think of my brothers, then my parents and then the young boys and girls in the world that have it worse then I do.  My body is just a body to me.  It is not something that defines me.  This disability was brought upon me because I am one of the stronger ones that can admit I know what I want and I am not afraid of sacrificing certain things or going through pain to better the lives of others.  I expect nothing in return.  And the best result to me is knowing I tried.  So, I contemplate whether or not this is the trial for me.  I have some questions I need to ask and whether or not this will be conflicting with my many projects such as my documentary.  But, at the same time, this may be a good thing to document; the life of Chloe Blohm.

It’s really hard to explain how I feel about this subject without sounding cocky or that it doesn’t affect me.  It does affect me.  But, I cannot allow myself to ever become hopeful that my life will be more than living in this wheelchair and depending on others.  CMD’s progression varies with type.  Many are slowly progressive and some have shortened life span.  These diseases are sometimes inherited through both parents and sometimes inherited from one parent. They can also occur spontaneously because of a newly developed genetic flaw (mutation).  So maybe the trial can give me a longer life span or not, but I am looking forward to finding out more about this clinical trial.  Maybe this will be the beginning to something new and life changing.