Wednesday, March 9, 2011

Moving like a turtle...

This week has been a bit hard. I have been very slow moving. Very symptomatic. I can really tell my symptoms are bad when it effects my writing and typing too. Usually it's just speaking that gets funny, but when it's really bad, I go back and read and what I wrote makes very little sense or has so many misspelled words in it. I'm not sure what I am doing wrong this week to make it so bad. I stopped exercising hard, mostly just around the house stuff and I have been eating. It could be that TOM is about to pay me a nasty little visit. I always get very bad the week before he comes. The muscle weakness is pretty pronounced right now. My back and abs feel weak, and I am hunching, not on purpose... Having a hard time sitting straight up for more than a few seconds really. And the lovely limp is back. Not as bad as before. I mean, I don't need the cane right now, but it is for sure there.
Fatigue. Man the fatigue is so tiresome. hahaha Did you catch that? I feel like I could fall asleep fixing dinner... We ran out of the mitochondrial cocktail, and given that our van just died and we had to get a new one, we haven't been able to get any more yet. It really sucks because I can see a difference in Kimber too. She has been having a pretty bad week. Fatigue and brain power, and when she gets fatigued and symptomatic it always means melt downs... Crying and then sleeping it off.

I have to find a way to get more meds. They are so expensive in the doses we take them in. The Coenzyme Q10 at Walmart is 20$ for a dose that is half of a month for Kimber. ANd I take 10 times the amount she does... Ebay has proven very budget worthy for our meds, but I have to buy it in bulk, which is still pretty expensive when you total it up.


  1. Hi! I discovered your blog while searching for information about Basilar Invagination. I have recently been diagnosed with BI, and was told that surgery would be done when I start "losing my balance and dropping things." So I am confused about your case. It seems like you have been at the losing your balance point for quite sometime. Is there a reason why you have not yet had surgery? Would it resolve many of your symptoms? I guess I am not clear about how many of your "Diagnosis and Symptoms" have been clinically verified and how many are "best guesses" from the medical community because they just don't know. How have they determined that the balance issues and weakness are NOT due to BI and therefore do not indicate surgery?

    Your story makes me sad because it is clear you are not getting the help or support that you need. The neurosurgeon that I saw told me that BI progresses "slowly but relentlessly" and therefore I will require surgery in the future. I am praying that it never gets to that point, but if my symptoms should progress as your have, I believe I will welcome surgery.

  2. Hi. Thanks for posting! I welcome questions. Unfortunately not many of my diagnoses are verified or stand out enough separate from one another clinically for them to do anything major about an individual issue. The neurosurgeon at The Chiari Institute told me I had the BI/CCI/chiari, but told my doctor that it was not bad enough for it to be the main cause of my issues.

    Then we found my current neurologist who said that my symptoms were more wide spread than just BI/CCI/chiari and included some that are not a part of those diagnoses, so she was more convinced it was a mitochondrial disorder (defect in the cells energy makers/users/storage). I had a muscle biopsy which came out abnormal, but not in a way that would give them a particular mitochondrial diagnosis. There are so many types, plus some that are still labeled "unknown". So, I have several different doctors with several opinions and no one can come together on a diagnosis. It doesn't help that none of my diagnostic procedures were definitive enough to pin point specifics. I have MRI's that show borderline everything.

    Plus I now have a daughter that shows a lot of mitochondrial disorder issues. She will see a muscle doctor on the 24th, and I am praying that she has an idea of what it could be because Kimber's case peaked her interest.

    So, I said all of that to say...hahaha. sorry brain is a little misplaced tonight...

    The geneticist who is familiar with all of my issues told me that the mitochondrial disorder causing major muscle weakness compounds the already weak joints that I have. Thus, the CCI/chiari/BI/RO is being caused by a combination of weak muscles and weak joints and the inability of my spine to correctly hold up my head. Which is why my symptoms improve a bit when I am not as weak.

    Whew that was a lot to say. hahaha.

    I do know for sure that every one agrees that I have a large pannus, which is like scar tissue buildup near the odontoid from it rubbing from movement. But, none of my doctors seem to think that there is anything surgical that will help.

    Hope that helps some. I have been on such a roller-coaster of "it's this, no it's this, no it's something else" that I am just focusing on how I can minimize my symptoms.

    Have a blessed night.

  3. Thanks so much for your response. I understand better why you haven't had surgery despite symptoms which WOULD indicate surgery for me. I have Primary Basilar Invagination due to congenital deformities of my cervical spine including atlantoaxial fusion, completely absent posterior arch of C1, fusion of the anterior arch of C1 onto the dens, partial fusion of C2 on C3 with obliteration of the C2-C3 disc space, short C2 vertebral body, and a misshapen C3 vertebral body. My MRI report states: "The craniocervical junction has a sharp angle as it drapes over the dens." Consequently, my cervical spine is unable to support the weight of my skull. Cranial settling will continue "slowly but relentlessly" until the pressure on the brainstem causes neurological symptoms that indicate surgery. I also have a herniated disc at C5-C6 with spinal stenosis, so basically my neck is a mess!

    I will keep you and your family in my prayers. Hopefully you can get off the roller-coaster very soon!!

  4. JoAnn,

    DO you have an Aspen Cervical Collar?

    I did wear one for a while and it helped with the days that I could not hold up my head well. I have a really short neck so it got a little uncomfortable. Also, I have the over the door neck support system and that did help take the pressure off of my neck for some time. It is equivalent of someone lifting up on my head to relieve pressure. Has a doctor recommended that for you yet? I would ask your doc next time you see him. It may relieve symptoms long enough for you to withstand it before surgery is necessary. I have taken care of a lot of kids with cervical fusions. You lose a lot of range of motion after that surgery. While for some people it is an acceptable tradeoff, it really isn't for me right now because not knowing where the actual cause of the problem is, I have been told it would likely have very limited success in helping symptoms. With Mito disease there are a lot of neurological symptoms that are just a part of it, so I would continue to have those despite any surgery.

    However, I can say that I have an online friend that had a lot of malformation in her cervical spine such as yours and after her fusion and decompression, she has improved so much. Here's to praying for symptom free days for you.

  5. I do have a home cervical traction machine, and it does help.

    No physician has suggested the cervical collar, perhaps because it has not been found to prevent progression of the BI but it does have a negative effect on mobilization. As you said, the cervical fusion that I will eventually need will cause significant loss of ROM, and I want to enjoy as much mobility as I can right now! Yet, I have seen cervical collars mentioned in the literature as a non-surgical treatment for BI...

    Happy to hear of the success your online friend had following surgery! I am curious as to how many years he/she suffered with symptoms before surgery was recommended, and how things progressed in the period before surgery. I am told it may be 5, 10 or more years before surgery is considered for me...

  6. She was a teenager when her symptoms started. She had a major growth spurt, but she also had underlying Ehlers-Danlos syndrome. Her symptoms were extremely rapidly progressive. She became unable to walk in a years time, with decreased reflexes and the whole bit. She had a lot more going on than just the BI. She also had a tethered spinal cord.

    You see, doing surgery on people with questionable issues is highly controversial, and since not many physicians agree with the RO/BI/CCI and chiari's under 5 mm, as well as tethered cords due to connective tissue disorders, finding a physician to operate and do what needs to be done is extremely difficult. You have to find someone who knows of all of the issues related to Ehlers-Danlos, which is usually a doctor who is close to the geneticist. In Baltimore there happens to be a great geneticist who understands these controversial issues EDS people face. And she has several neurosurgeons who have witnessed first hand the success of surgery on these patients, but the rest of the medical filed is slow to catch up. (I have seen this myself as a nurse with all of the issues and even the doctors I worked with were quick to question such methods).

    My friend had her cord detethered first, but that did not rid her of all of the problems so 2 weeks later she had the fusion/chiari decompression and had amazing results. A complete reversal of her lost reflexes, nerve pain, headaches, etc. I met a girl when I went to the chiari institute who had the fusion done, and while she said it did limit her ROM, she was so happy she had it done, said she didn't regret it one bit and it was worth the trade off to get rid of the symptoms.

    I guess it all depends on how bad your symptoms are. There are some with chiari, BI, CCI, RO that have very little symptoms and some that have little evidence of any and are extremely symptomatic.

    Since she was a teen with a growth spurt and such rapid progression of symptoms, she was treated quickly and had amazing success. I have heard different stories from different people in all of my investigating, it's different for everyone.

  7. If you want to talk more, I am open to email.