My story began when my 7-year-old nephew was diagnosed with ALD due to the symptoms he had and through all the tests that he had done the summer of 2007. Once my nephew’s mother, Audrey, was informed this disease was hereditary, my immediate family (siblings and mother) received the same testing to conclude who also carried the X-linked ALD. I am the fourth child of six, consisting of three older sisters and two younger sisters and myself. My oldest sister Audrey; second to the oldest sister Michaela; and I Jose, are carriers of the X-linked ALD. My mother is the obvious known carrier of the X-linked ALD (as far as we know the root of the X-linked ALD). Audrey, Michaela, and myself have passed the X-linked ALD to one to two of our children (Audrey: two, Michaela: one, myself: one).
Upon graduating from high school in the year 2006, I enlisted in the United States Marine Corps on January 3rd of 2007 and graduated Marine Corps Boot Camp March 30th 2007. After all the training and schooling, I was stationed to a unit in North Carolina in August 2007. My journey finally began as a Marine.
Soon after my nephew was diagnosed, finding out that I had this disease in early 2008, not experiencing any onset-symptoms was terrifying to think how it would affect my future career/life as a Marine. However, having general knowledge that it mainly affects ‘young’ boys, and I had already reached my young adult life left me doubtful that the disorder would take a turn on me. From the information I received from the doctors encouraged my doubtful thinking even more. They had informed me from the little they read it only affects young boys. So I went through everything in life from that point as I did prior to finding out the diagnosis.
In April of 2009, I was deployed to the Helmand Province of Afghanistan for a year. Upon re-deploying back to the U.S. in April of 2010, I had an MRI done and the results came back as being normal. I was beyond relieved to hear the results of it, but there was still some doubt because I did not meet with a doctor who was specialized with the studies of the X-linked ALD.
On May 8th, 2010, I married a woman who already had a son from a prior relationship. I have nurtured her son as if he were my own. Till this day I see him as my son. Since the day we met, she was informed about the severity of my tasks as a Marine, and of course the life changing elements of being and X-linked ALD carrier. I said to her, “I don’t want you to wait for me because if you meet someone that makes you truly happy then I will understand.” She was there for me throughout the yearlong deployment and not once did I feel like she abandoned me or gave me any doubts that she had found someone else or wanted to move on due to the wait and not knowing if I was going to make it home.
Soon after, I received orders to a unit in California and checked in September 1st of 2010. In October of 2010, I was chosen to be on a special team of 19 Marines and 1 Navy Corpsmen to carry out special operations in Afghanistan due to my past experiences. During the six month training evolution, I started to notice that my balance was being affected because I would fall or stumble while walking or running. I received another MRI on my brain and the neurologist reported that she did not see any signs of the disease that everything looked normal. When it came time to deploy in February of 2011, I was able to stay behind because my wife was pregnant with my daughter. I had the opportunity to care for my newborn, wife and son. I adequately met my duties as a husband, father and as a Sergeant of the Marines.
In October of 2011, I was chosen, once again, to be a part of a detachment deploying to Afghanistan for 9 months to a year. Of course, this was difficult for my family to hear because I would be away from them. While on pre-deployment leave (vacation prior to deploying), my eldest sister advised me to have blood work done to observe where my ACTH, cortisol and thyroid levels were. When the results came back, I was diagnosed with being Adrenal Insufficient and Hypothyroidism in which I was placed on Hydrocortisone for the adrenal part and Synthroid for the thyroid issue. When the doctor prescribed me the medication I told her I am going to need at least a 90-day supply of the meds due to deployment. It was then I had to hear the worst news I had ever received in my life. I was told that I didn’t have the same chances (life longevity) as a normal person. She informed me if I were to ever receive trauma to where I would bleed, I would die because of my standings with my health at the time. Due to her being a civilian doctor she couldn’t stop me, so I went forward and deployed because I felt I would let my team down if I backed out only a few weeks prior to departing.
During the deployment, I began to feel more tired and a lot clumsier. I was having trouble falling asleep at times and I even began having trouble getting up and preparing for the morning. While I was deployed, my wife would send me refills of the meds I was taking so I knew those symptoms weren’t due to missing a dose. When I redeployed back to the U.S. in July of 2012, I noticed I was having trouble with being able to deal with stress. When I tried to transfer my medication to my Naval Hospital it raised a red flag out of curiosity to why I was taking a steroid. Once I explained why, I was referred to a neurologist and endocrinologist. Every appointment I attended, my wife was included because she helped attest to the changes I was experiencing. There were things she said about me that I didn’t know I was doing or showing and always after, I wondered if that was the reason I was having so much trouble with my marriage. I blamed it on the deployments but everything she said had nothing to do with my experiences while deployed. I knew but did not understand why my moods or personality would change. So it was good for my wife to be there to help define the abnormalities I was displaying. I was seeing the endocrinologist and neurologist frequently due to their little knowledge about the disease.
Late 2012, I began to have problems with my legs. They showed signs of muscle weakness. If I stood for too long, my legs would begin to shake or jolt and at worst cases, give out on me making me stumble or completely fall.
February of 2013 I was put on a Medical Evaluation Board to see if I was going to meet the standards of being able to meet the requirements of a Marine due to my diagnosis. I was put on limited duty, which meant I couldn’t train, deploy among many things. A U.S. Marine is not only expected to do, but what is demanded. The problems with my legs progressively worsened as time went on and it was until March of 2013 that I spoke up about it to a doctor. They prescribed me with Meloxicam to aid and or alleviate the pain and function of my legs. The more time that went on, I noticed that it wasn’t just my legs that were being affected but it was my entire lower body. Not only was I experiencing weakness in my leg muscles, I was also experiencing erectile dysfunction. Due to the embarrassment, I kept quiet not realizing how much it affected me. Then it was until I began to have uncontrollable bowel movements I realized this is completely abnormal. These were the most embarrassing things I had to deal with and I did for about 2-3 months. Once it started getting more frequent between accidents, I went to see my medical provider and for the erection problem, they prescribed me Cialis to try and treat the issue. As for the being incontinent, they said there wasn’t anything they could do for me and that I should just keep record of how frequent it happens. Due to the AMN starting to affect more than just my legs, I had an MRI on my lower spine and the report the neurologist gave me said everything was normal. I was relieved but this brought more questions and more of a helpless feeling because no one could tell me why such abnormalities were occurring.
A week prior to getting the MRI report last month, my legs gave out on me causing me to hit my chin on a dresser when I fell. I had to have sixteen stiches because it cut all the way through the area between my lower lip and chin. It’s now that I’m beginning to feel so helpless, depressed, angry, resentful and any other negative emotion one can think of because not one medical doctor or specialist can really help or find key answers to my condition, besides prescribe me more medication. Each doctor or “specialist” I’ve seen told me, “I am not familiar with this but I am reading the notes from the other doctor(s) and I just want to learn what the other doctor(s) seen.” It makes think instead of them trying to find the root of my abnormalities; they are studying me as if I’m some random study.
And now, it’s June 1, 2013 and I am doing all my research demanding the things that I have found such as the toilet card and the emergency kit to ensure better care for myself. Also, I am finally going through physical therapy and hopefully they will give me something to help improve my overall lower mobility (walking, running, standing). The end result of my story is that I will be separated from the Marines and become a civilian. But in the end I know I will always have my family to support me and I will always be up to date with the things I will need to do to because of all the experience and knowledge that my sisters have. I know with their care and all the resources they’ve gained, I will hopefully be sustaining some normality. I really want to thank the ALDlife foundation for helping me to cope and to keep a positive outlook on life due to their prompt responses with the e-mails I have ever sent them. There is nothing like being able to turn to someone or even if it is a website to nurture my needs. Thank you for your time and if there is anything else I can do to help then please let me know. Do not give up or let Anyone make you feel like just another patient. Right now I have many resources and knowledge due to asking questions and reaching out. Again Thank you!
Sgt Arellano, Joseluis A.
9th Communication Battalion