I posted this on Facebook last week and thought I would add it here as well.
Several people have asked me how I am doing, if I have any news on getting an appointment, etc. So, I thought I would put together a status update and just post it here. As a recap, back in September, I was hospitalized for 3 days due to losing strength on the left side of my body. I had actually been having some neurological problems leading up to that and was on my to a neurologist appointment when I lost strength and detoured to the emergency room at Dallas Medical City. That’s definitely leaving out a lot but I don’t want to bore you with the details.
Since then, I’ve been trying to keep a daily journal of all of my symptoms. Some days are definitely better than others. I still experience symptoms on a daily basis but nothing like I was in September or when I had a “flare up” a couple of weeks ago. I often experience the following symptoms:
- Concentration Issues – Trouble staying on task, particularly with background noise
- Dizziness
- Fatigue
- Hand Tremors
- Low Appetite
- Memory Loss – Forgetting conversations, forgetting words, forgetting tasks
- Nausea
- Pupils Two Different Sizes
- Shooting Pains in Hands and/or Feet
- Some Spasticity in my Arms and/or Legs
- Weight Loss
I’ve lost about 15-20 pounds since September since a lot of the time, I just do not feel like eating much. Either that or I get full very quickly. While losing weight isn’t necessarily a bad thing, it’s been a little fast and a little scary, I guess. Also, it’s easy to chalk up some of the symptoms to just being a mom with three little kids; however, these are all NEW symptoms for me and just suddenly appeared. I’ve had more than one doctor tell me that they think its all stress but I don’t see how that can explain all of my symptoms. I have grown weary of doctors writing my symptoms off as all stress-related. At 40, and particularly after going through infertility (tracking temps, symptoms, etc), I am very in tune with my body and this is NOT how MY body handles stress.
Many of you have asked if the doctors had tested for specific illnesses / diseases, so it might be helpful for me to list what I do NOT have:
- B12 Deficiency
- Cancer
- Carpal Tunnel
- Fibromyalgia
- Guillain-Barre Syndrome
- Lupus
- Lyme Disease
- Rheumatoid Arthritis
- Stroke
- Syphilis (don’t laugh, they tested me for it in the hospital)
I’m sure I left out a few but this is what I could think of off the top of my head.
I recently learned that I was accepted by the UT Southwestern Multiple Sclerosis Clinic. They sent me a large packet of paperwork to complete and fax back to them. Once they receive it, they will review and then schedule my first appointment. I do have a Neurologist that I am seeing; however, I’m not very happy with him. For multiple reasons, I guess. Number one, he chalked up my pupil issue as an eye infection but my eye infection is gone and my pupils are still two different sizes. Number two, he was convinced that I had carpal tunnel even though carpal tunnel couldn’t cause all of my issues. Number three, he attributes hyper-reflexes to a spine problem and since my MRI’s came back clear, he basically said that I shouldn’t have an issue. The hyper-reflex is almost ridiculously obvious during a physical exam. If the kids bump into my legs while I’m sitting, I almost kick them because of the reflex. Number four, he also told me that we may have to just say that we don’t know what’s wrong with me. I outright told him that I am absolutely NOT ok with that. I asked him why he doesn’t think its MS and he said that it’s because I do not have any lesions (http://en.wikipedia.org/wiki/Lesions). While that is true, I have not come across any documentation that says that absolutely 100% does not mean I do not have MS. Not to mention that all the MRI’s show is that I do not have any visible lesions right now – they cannot foretell what the results might be in the future.
My clinical symptoms all point to MS. I also have elevated protein levels (74) in my spinal fluid. I have identical oligoclonal bands (http://en.wikipedia.org/wiki/Oligoclonal_band) in my spinal fluid and my serum which typically indicates the presence of an immunological disorder. However, again it does not 100% rule out MS. Also, my spinal fluid results show a moderate impairment of my blood-brain barrier (http://en.wikipedia.org/wiki/Blood-brain_barrier). If nothing else, it bothers me that my current neurologist is not more interested in finding out what I DO have particularly since he said that he had never seen lumbar puncture results come back like mine. Where is Dr. House when you need him?
My mother recently told me that she is ok with me trying to find my birth parents particularly since I have so many medical issues and so few answers. I am not sure yet what I want to do. I would love to have the medical information and the ancestral information but at this time, I am not interested in having a relationship with my birth family. I have never felt that anything was missing in my life like that and to be honest, it seems like it could just add another element of stress to my life which is NOT what I need right now.
Some of you may remember that I had my mitochondrial DNA sequenced a couple of years ago. I was motivated by my curiosity in where I came from – like what countries my ancestors were from. I felt envious, for example, that Mike can tell the kids that he is German. All I can tell them is “I don’t know”. Without getting too deep into the whole genome sequencing and all that it entails, I found out that my maternal line is in the J Haplogroup (http://en.wikipedia.org/wiki/Haplogroup_J_(mtDNA)). I belong to a Yahoo group for this J Haplogroup and they were having a discussion this weekend about Leber’s Hereditary Optic Neuropathy. Basically it is a genetic condition that is passed in the mitochondrial DNA and it is also most common in the J Haplogroup. I used the miracle that is Google and was reading up on it when I saw that it is commonly associated with MS. One thing led to another and I had an idea about googling mitochondrial mutations and MS. I happened to find a research study conducted by an MS specific non-profit group. In this study, using a control group, they identified common genetic mutations among a majority of MS patients. While having these mutations does not guarantee MS, it does greatly increase the likelihood of developing MS. I have two of the three possible mutations mentioned in the study. Another interesting fact, the doctor that I am supposed to see at UT Southwestern is on the Scientific Advisory Committee of this group. I never dreamed when I had my DNA tested that it would do anything more for me than tell me where I came from.
I apologize for rambling. If you know me, you know that much of that is my personality. Some of it is my concentration issues and easily getting off focus though. My current status is that I am almost done with the UT Southwestern paperwork. I will fax it back to them and hopefully hear soon regarding final confirmation that I am accepted as a patient and when I will be seen.
I appreciate all of your thoughts and prayers so much. There are days that are really good and days that are really bad – emotionally and physically. I think the thing that I am struggling with most at times is that it is hard to come to terms with something when you don’t know what that something is. Without a diagnosis, there is no medication that I can be given to slow the progression of whatever I have. When I was trying to tell Mike about the genetic mutation information, I was shocked enough by it that I was having a lot of trouble formulating the words to convey it to him. What I mean by that, is that I have noticed when I am stressed, surprised, caught off guard, etc, it is even harder for me to focus and concentrate. That scares me. If for nothing else than how can I communicate what I need to Mike, a doctor, whoever, if I cannot concentrate enough to get my thoughts out? The thought of it potentially getting worse really scares me. I just hope that I can get a diagnosis for WHATEVER I have so that perhaps I can slow the progression of whatever it might be.
Facebook is probably the easiest for me since I can get information out to a large group of people in one shot. If you don’t see an update, please don’t think that it’s because I have left you out – it’s more likely that I am overwhelmed and am trying to get to it, or that I don’t have anything to update. But, I will do my best to keep everyone updated.
