One year ago today, I was training for a triathlon; I woke up the next morning barely being able to hold myself up. Obviously, I thought I just overworked myself in training but in the back of my mind, I flashed back to earlier that year when I had a 2 week period of barely being able to walk. My doctor found no reasoning or causes for it; since the symptoms subsided, we just let it be. Here I am again, a year later, with the symptoms becoming worse and still no answers. My only question is “Why Can’t I Walk?” To add to this, 6 months ago we found out that I have a genetic defect that doesn’t let my body to absorb certain vitamins and has a hard time getting them into my muscles. I have begun to question lately if my genetic disorder could be causing this reaction. I looked into people who were researching the genetic defect that I have and found a man named Dr. Ben Lynch. I decided to write him a letter and read some of his research, as well as others research on this defect as well as on mobility problems as well. My community theme this year considering all of this was Health and Wellness. For my project I talked to many people through forums, saw specialists, and did extended research about common medical mysteries. When talking to people, I was able to help find great resources for some people, as well as myself and was able to get new inside as to what might be wrong. Through all of this, talking to others and doctors, I realized that anything can happen and anything can cause this. As follows is my research and hopefully soon some answers.
As my research has started, I have already learned so much that I didn’t know about methylenetetrahydrofolate reductase (MTHFR),the genetic defect that I have. One of the biggest things that I have learned in just reading a few paragraphs is that this defect is commonly linked with Spina Bifida, which I also have. Spina Bifida is a neural tube defect and commonly causes back and bladder problems with young children (MTHFR). While this information page mainly describes other things that can be caused by MTHFR, I thought that this was very important to explore other things related to this defect that could be causing this loss of mobility. After this, I started thinking about more symptoms caused by MTHFR and that is where I went for my second source.
Depression is commonly linked and even at higher risk for individuals with MTHFR. Stahl shows through his research the enzymes and folate deficiencies that could cause not only depression but MTHFR from depression. Stahl explains that there is not only a higher risk for depression, but that the chances of anti-depressants working is lower as well. I found this increasingly interesting because typically individuals with depression have a lower chance of improving whatever condition they are in because of their mental mindset. Stahl is a great resource for learning more about MTHFR as well as Depression because he has a PhD and MD in Pharmacology. While depression doesn’t seem like it could be linked to what I am looking into but sometimes mental and emotional problems manifest themselves in physical means. I decided that learning more symptoms that stem from spina bifida as well as depression might be a good idea. I don’t want to limit myself thinking that the only cause for this could be the genetic disorder. So opening my mind and spreading further into the spectrum to answer my question, seems like a great thing to do. For this I went to some academic articles and looked for even some possible experiments or tests that might be happening on any or all of these topics. The last source goes off this idea.
I learned so much from this last source. I learned about how my leg problems could be caused by long term effects of Spina Bifida. I learned that some people who had Spina Bifida also had leg problems when they were older. From what I read though, it did not seem to be leg weakness instead it was more of movement problems. Knowing this, I will still be writing a letter to Dr. Lynch to see if there is a way that the weakness could be linked to the genetic mutation or if Spina Bifida was the closest answer that I might be getting.
I have learned a lot from this research and there is still a lot to be learned from it. I will hopefully be getting a letter back in the mail from Dr. Ben Lynch, more research could be done, and possibly even more testing being done on me and something solved from that. This volunteer project, as well as doing the research for this last project has completely changed my opinion on what is happening in my life and how much what I do and say can effect others. I am really happy with the results that I have gotten from this research and the new friends that I have made by doing it.
“MTHFR.”– Methylenetetrahydrofolate Reductase (NAD(P)H). Genetic Homes Reference, 26 May 2014. Web. 31 May 2014. <http://ghr.nlm.nih.gov/gene/MTHFR>.
Stahl, Stephen M. “Column.” CNS Spectrums: Novel Therapeutics for Depression: L-methylfolate as a Trimonoamine Modulator and Antidepressant-Augmenting Agent. CNS Spectrums, 10 Dec. 2007. Web. 31 May 2014. <http://www.cnsspectrums.com/aspx/articledetail.aspx?articleid=1267>.
“Long Term Problems Associated with Spina Bifida.” Long Term Problems Associated with Spina Bifida. University Hospital Southampton NHS Foundation Trust, 28 Mar. 2013. Web. 07 June 2014. <http://www.uhs.nhs.uk/OurServices/Childhealth/Neonatalsurgery/Conditionswetreat/SpinaBifida/LongtermproblemsassociatedwithSpinaBifida.aspx>.