Since my last post, much has transpired. Fortunately, most events and happenings have been positive--- or at the very least, informative.
I had an ACTH Stimulation test to measure my body's response to cortisol. The test was important, as it would determine if my body's adrenal function had returned to normal following heavy steroid use. Unfortunately, my "levels" were too low; I have to remain in 4 m.g. of Prednisone for a while longer. I honestly feel better, energy-wise, while on the Prednisone. The only disappointment I have on staying on the medication is that my weight has not gone down at all.
Also recently, I met with a genetic counselor through the Virginia G. Piper Cancer Center. Initially, the counselor was a bit confused by my referral--- most of the patients she sees are cancer-related referrals. I think my case actually interested her! She spent over an hour answering my questions regarding CCM, and even made sure I had at least some basic understand of how genetic mutations occur. My counselor then gave me a kit (Gene Dx) to take to a nearby lab. I should have the test results in 6-8 weeks.
I felt it was important to go through with genetic testing so that doctors will know the specific gene responsible for my cerebral cavernous angiomas. That way, I can hopefully participate in future research or drug trials for "my type" of mutation.
When I return for my results, I will most likely take my oldest son in for testing. He is the only biological child who has no lesions on MRI; he wants to know if he has the mutation. We will most likely also have our symptomatic children tested--- just to have the information. You never know when this information may prove helpful.
The most disconcerting aspect of genetic testing is understanding that since it is an autosomal, dominant mutation, my (possible future) grandchildren each will have a 50% chance of having this disease. The genetic counselor suggested that the only way to circumvent the disease cycle is to not have children (and adopt), or to have in-vitro fertilization.
Initially, I thought of "how cool" it was that an embryo could be tested for the mutation and then implanted in the mom if the results were normal--- but the thoughts of what would happen to that embryo with a mutation seems too difficult to contemplate. Basically, you would allow the healthy embryo to live... and then let the unhealthy one die. I am all for avoiding disease and for making wise decisions, but IVF comes with serious moral considerations. I am so thankful I will not have to face this personal decision. I have already started praying for the health and safety of any future children in our family. These are sure tough issues.
In other family news, my youngest biological son's cervical and thoracic spine MRIs came back clear. Praise the Lord! I cried many happy, thankful tears that he will not have to manage additional serious lesions. His cerebral lesons will be enough to contend with.
In other medical news, I need to go in for an EEG. My history seems to indicate that I may have experienced several partial seizures due to the lesions in my temporal lobe. Even if my EEG in "normal," my neurologist (Marisa Sosinsky, M.D.) recommended that I still go on anti-seizure medication. She said that with all the lesions in my brain, whether or not I will have a seizure is not if, but when. That didn't sound too encouraging to me; I will be starting with a new drug called Vimpat soon after my EEG. I'm not too excited about medication, but I do understand the necessity of trying to remain seizure-free; I have too many lives depending on mommy's safe driving.
And finally... one more interesting and positive event-- vestibular therapy (Valley Physical Therapy). I have been going to therapy now twice a week for the last several weeks. I also "work out" at home or at the community pool on the days I don't go in for therapy. The vestibular therapy has significantly reduced the number of random dizzy spells I was experiencing. While my vertigo has not disappeared, it does seem that the frequency and intensity of vertigo has diminished. The ability of the brain to change and adapt is truly marvelous!
I am also doing some other "regular" physical therapy for my weak left side. This work has absolutely improved my balance and overall look out on life. I am much more confident on the stairs, and seem to be having more "good" days. I am encouraged. I feel that I am adapting to the numbness and learning to trust my body to do what it is supposed to do (even if I can't feel it). So strange, but good.
Finally, my daughter had her one month follow-up for her brain stem Cyber Knife radio surgery. She is doing well, although she is still quite fatigued. Dr. Kresl did recommend that we closely monitor my daughter's thyroid levels in case the surgery or the steroids affected her levels. We are encouraged by her recovery.
It has been a very busy, informative time for us. God-willing, the crises will settle and we can find a "new normal." God-willing.
I had an ACTH Stimulation test to measure my body's response to cortisol. The test was important, as it would determine if my body's adrenal function had returned to normal following heavy steroid use. Unfortunately, my "levels" were too low; I have to remain in 4 m.g. of Prednisone for a while longer. I honestly feel better, energy-wise, while on the Prednisone. The only disappointment I have on staying on the medication is that my weight has not gone down at all.
Also recently, I met with a genetic counselor through the Virginia G. Piper Cancer Center. Initially, the counselor was a bit confused by my referral--- most of the patients she sees are cancer-related referrals. I think my case actually interested her! She spent over an hour answering my questions regarding CCM, and even made sure I had at least some basic understand of how genetic mutations occur. My counselor then gave me a kit (Gene Dx) to take to a nearby lab. I should have the test results in 6-8 weeks.
I felt it was important to go through with genetic testing so that doctors will know the specific gene responsible for my cerebral cavernous angiomas. That way, I can hopefully participate in future research or drug trials for "my type" of mutation.
When I return for my results, I will most likely take my oldest son in for testing. He is the only biological child who has no lesions on MRI; he wants to know if he has the mutation. We will most likely also have our symptomatic children tested--- just to have the information. You never know when this information may prove helpful.
The most disconcerting aspect of genetic testing is understanding that since it is an autosomal, dominant mutation, my (possible future) grandchildren each will have a 50% chance of having this disease. The genetic counselor suggested that the only way to circumvent the disease cycle is to not have children (and adopt), or to have in-vitro fertilization.
Initially, I thought of "how cool" it was that an embryo could be tested for the mutation and then implanted in the mom if the results were normal--- but the thoughts of what would happen to that embryo with a mutation seems too difficult to contemplate. Basically, you would allow the healthy embryo to live... and then let the unhealthy one die. I am all for avoiding disease and for making wise decisions, but IVF comes with serious moral considerations. I am so thankful I will not have to face this personal decision. I have already started praying for the health and safety of any future children in our family. These are sure tough issues.
In other family news, my youngest biological son's cervical and thoracic spine MRIs came back clear. Praise the Lord! I cried many happy, thankful tears that he will not have to manage additional serious lesions. His cerebral lesons will be enough to contend with.
In other medical news, I need to go in for an EEG. My history seems to indicate that I may have experienced several partial seizures due to the lesions in my temporal lobe. Even if my EEG in "normal," my neurologist (Marisa Sosinsky, M.D.) recommended that I still go on anti-seizure medication. She said that with all the lesions in my brain, whether or not I will have a seizure is not if, but when. That didn't sound too encouraging to me; I will be starting with a new drug called Vimpat soon after my EEG. I'm not too excited about medication, but I do understand the necessity of trying to remain seizure-free; I have too many lives depending on mommy's safe driving.
And finally... one more interesting and positive event-- vestibular therapy (Valley Physical Therapy). I have been going to therapy now twice a week for the last several weeks. I also "work out" at home or at the community pool on the days I don't go in for therapy. The vestibular therapy has significantly reduced the number of random dizzy spells I was experiencing. While my vertigo has not disappeared, it does seem that the frequency and intensity of vertigo has diminished. The ability of the brain to change and adapt is truly marvelous!
I am also doing some other "regular" physical therapy for my weak left side. This work has absolutely improved my balance and overall look out on life. I am much more confident on the stairs, and seem to be having more "good" days. I am encouraged. I feel that I am adapting to the numbness and learning to trust my body to do what it is supposed to do (even if I can't feel it). So strange, but good.
Finally, my daughter had her one month follow-up for her brain stem Cyber Knife radio surgery. She is doing well, although she is still quite fatigued. Dr. Kresl did recommend that we closely monitor my daughter's thyroid levels in case the surgery or the steroids affected her levels. We are encouraged by her recovery.
It has been a very busy, informative time for us. God-willing, the crises will settle and we can find a "new normal." God-willing.
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