As you know, I have a rare and difficult congenital condition known as Arthrogryposis Multiplex Congenita. Every year, there is a conference for parents with children who have this condition as well as adults with it. I have never attended the conference, but I was told that a doctor in attendance, Dr. Hall, called on everyone to begin a letter writing campaign to Congress and the Senate encouraging approval of federal and state funding for research and development of standard medical treatment.
You see, Arthrogryposis is a condition that has virtually no notoriety, no proper research, no celebrity patron, no nothing on a standardized level. Why, you may ask, is it important for there to be funding for research? For starters, Arthrogryposis Multiplex Congenita (AMC) means multiple joint contractures present at birth. A joint contacture is a joint that lacks normal range of motion, or in other words, is stiff and/or curved. More than 3 joints have to affected in 2 areas of the body to have a diagnosis of AMC. Approximately 30% of newborns with Arthrogryposis will die within the first few months of life because they have a lethal form of the condition that causes nervous system dysfunction. There are roughly 400 types of Arthrogryposis, and 1/3 of those cases are classified as Amyoplasia Arthrogryposis, which is non-genetic and nobody has a clue of what causes it or why.
In other words, it’s absolutely inexcusable that there hasn’t been enough proper research to at least develop a better medical treatment system than the experimentation we all went through as children. I was born about five years before any doctors remotely knew what to do, which meant that I was shipped to different hospitals in different states looking for somebody who could help. I don’t even know which type of Arthrogryposis I have. I’ve had roughly 18 surgeries beginning before my first birthday. Most were deemed as, “Well, this might work but we don’t know.” Many of my surgeries had no affect on the quality of my life whatsoever. Many were brand new in my generation and have now become standard “we’ll try it” surgeries for everyone younger than me. Doctors who were faced with treating Arthrogryposis in my generation and the generations before me are true cowboys of medicine because they had to take risks to try and help us. Their work has largely been ignored by the world because Arthrogryposis, like so many other rare congenital conditions, has no celebrity patron. We have no one fashionable to be our spokesperson, so we have to be our own spokespeople.
There is no cure for Arthrogryposis. There is only treatment to reduce the severity of the joint contractures and increase muscle strength to maximize the function level of the individual. Treatment often includes stretching the joints multiple times per day, serial casting, physical, occupational and speech therapy, splinting, bracing, tendon releases and lengthening, osteotomies (bone cuts), and external fixators. All of these things are extremely painful (speaking from personal experience). The fact that we keep putting ourselves through these treatments knowing there is no cure but only a hope to make life bearable is also quite mentally painful. I’m 30-years-old and I’m still facing major surgery. The contractures in my feet have reverted to the way they were before the first time they were reconstructed. It involves releasing tendons, breaking bones and re-positioning them. I will be facing 3-6 months of recovery once they decide to go ahead with it. This is just a glimpse at one surgery. Now picture going through it 18 times on different parts of your body.
Do you see why we need funding for better research and development of medical treatment?
I’m asking you, along with Dr. Hall, to help us bring attention to our legislative bodies. Email is not good enough. One tangible paper letter is equal to dozens of emails. You can look up your local state representatives here: http://capwiz.com/yo-demo/dbq/officials/ and when you find their addresses, send letters. Please commit to sending your letters between now and December 15, 2012, to make a concentrated impact. It helps if you talk about people you know with the condition, the way they’ve struggled to find proper medical treatment, what further funding would do to improve their quality of life, etc. If you don’t know anyone with Arthrogryposis besides me, I give you permission to reference me and use my picture. The point is to make the government understand that a 30% infant mortality rate is unacceptable, and so too is it unacceptable that there are virtually no medical studies to identify the cause of this condition, as well as long-term studies on treatment success.
Specific areas of research that we need you to mention in your letters include finding the cause of Amyoplasia (the sporadic type that nobody understands), mapping the genes in genetic types, and long-term outcome studies need to be done for common surgical procedures in this diagnosis. I also want to push for research in women’s medicine associated with Arthrogryposis. Roughly half of my doctors tell me I can have children like other women. Half laugh at me when I ask. Other women with Arthrogryposis are generally left in the dark as far as women’s health and sexual health. We’re all left to decide on the risk of pregnancy with very little information on the success or failure of it.
Please, please feel to contact me if you want help writing your letter. I will post my own letter as an example as soon as I write it.
No idea where to start in writing a letter to your congressmen?! Start here: www.tiny.cc/writeforamc
Put fact sheets like these in your letters.
If you choose to write your state representatives on behalf of those of us with Arthrogryposis, I personally thank you from the bottom of my heart. Again, please feel free to contact me if you need help.