After losing my job in January, my focus became a little more widespread. i.e., I am going in too many different directions at once. Attending classes at the local JC, working as an on call temp for the local school district, applying for permanent employment on a daily basis, and keeping up with my husband and two kids (all with various health issues). Yikes!
Anyway, the results from my March Dr. appointment were normal with no major surprises.
My lab work came back with slightly high triglycerides, low HDL Cholesterol, high glucose levels, and high CO2. All warning signs that I need to become more active and lose some weight before it becomes a “real” health issue. Definitely a wake up call to the possibility/high risk of developing diabetes. I have always been overweight, but this is the first time it showed up on a blood test. Working a desk job, and then taking online classes at night that leave me sitting at a computer all day combined with sloppy eating habits does not help the situation.
The EKG was within normal ranges.
The bone density test provides a reference point as I age and was currently normal. I guess individuals with PKD are at a higher risk for fractures as they age.
The kidney ultrasound showed a slight growth in the size of the cysts, but nothing major. Stress does irritate the cysts causing bouts of pain.
The mammogram shows simple cysts that I have had since I was in my early teens, most likely a side affect of the PKD. They are not anything to worry about, just a little uncomfortable at times.
Dr. Williams did contact the Nephrologist that he referred me to, and I was able to schedule an appointment in early July. At this point, I do not expect to gain much from the appointment since we already did the tests I wanted, but I do want to develop a relationship so that if I have a concern in the future, I will hopefully have better success at a timely appointment. I would also like her to keep me in mind if she learns about any new preventative options that become available.
Mostly, my goal is to focus on preventative health at this point.
Wednesday, May 21, 2008
Friday, March 14, 2008
Doctor Appointment for Margaret
I have been trying to schedule a doctor appointment with the Nephrologist that my primary care doctor referred me to since December, and finally gave up yesterday. I called my primary care doctors office and told the receptionist that I at least wanted Dr. Williams to run the lab work to check my renal function. I was also concerned that I have had consistent pain in my right side since early December. She arranged for me to see Dr. Williams early this morning.
Dr. Williams was actually far better this visit than he was last time. He seemed genuinely irritated that the other doctor had not arranged to see me, and he ran all the lab work I wanted done himself. He also arranged for an EKG, a bone density test, a kidney ultrasound, and a mammogram to be done first thing Monday morning so keep your fingers crossed that all is ok.
Dr. Williams was actually far better this visit than he was last time. He seemed genuinely irritated that the other doctor had not arranged to see me, and he ran all the lab work I wanted done himself. He also arranged for an EKG, a bone density test, a kidney ultrasound, and a mammogram to be done first thing Monday morning so keep your fingers crossed that all is ok.
Wednesday, March 12, 2008
PKD and Tuberous Sclerosis
Bob from Team Teddy Bear http://teamteddybear.blogspot.com/ responded a while back to a posting I made regarding “Dealing with the Unknown” that brought me to blog/mention some thoughts I have regarding Amanda’s scalp condition in relation to PKD.
It took me a while to reply...I think I am actually less efficient staying at home then I was when I was working full-time.
Anyway, some rambling thoughts to consider...
Both the condition that Amanda has on her scalp and PKD are associated to Tuberous Sclerosis. (We did have testing done for TSC and it came back negative with the comment that testing does occasionally come back with false negative results.) Her doctors really did not feel that she fit the classic symptoms for TSC and ruled it out based on that test. However, I did learn in the process that the same chromosomes that cause/affect TSC are the same as PKD. I copied the following statement from the tsalliance website:
“One important research finding was the discovery of the TSC2 gene in close proximity to the gene for polycystic kidney disease (PKD1) on chromosome 16. A small group of individuals with TS have a large segment of chromosome 16 deleted which means that both the TSC2 and PKD1 genes are also removed. These individuals most often will have polycystic kidneys from birth and will require close monitoring and treatment throughout the childhood years.” (http://tsalliance.easycgi.com/pages.aspx?content=49)
When I received the genetic report from Athena regarding the PKD diagnosis, there were “variant types” listed with “unknown changes”, which I understood to mean that they recognized something was different but that they did not have enough research available to identify what the changes meant. I cannot help but wonder if someday they will eventually be able to identify other health related issues based on those changes, but that they just have not had enough research completed yet. I should also point out that it was specifically the PKD1 gene that was affected for both Amanda and me.
For the reasons outlined above, I am not totally convinced that the condition on Amanda’s scalp is not a rare manifestation related to PKD in some obscure way??? While researchers have learned a great deal in recent years regarding PKD, they still have a lot to learn so who knows. I personally have no medical background, but as an individual and mother of a child with PKD, I have read a lot of information and can’t help but wonder when I see the same diseases linked in various ways????? That is one of the positive aspects of doing genetic testing. They now have our blood/DNA available to study for research that I hope will in some way aide families in the future.
It took me a while to reply...I think I am actually less efficient staying at home then I was when I was working full-time.
Anyway, some rambling thoughts to consider...
Both the condition that Amanda has on her scalp and PKD are associated to Tuberous Sclerosis. (We did have testing done for TSC and it came back negative with the comment that testing does occasionally come back with false negative results.) Her doctors really did not feel that she fit the classic symptoms for TSC and ruled it out based on that test. However, I did learn in the process that the same chromosomes that cause/affect TSC are the same as PKD. I copied the following statement from the tsalliance website:
“One important research finding was the discovery of the TSC2 gene in close proximity to the gene for polycystic kidney disease (PKD1) on chromosome 16. A small group of individuals with TS have a large segment of chromosome 16 deleted which means that both the TSC2 and PKD1 genes are also removed. These individuals most often will have polycystic kidneys from birth and will require close monitoring and treatment throughout the childhood years.” (http://tsalliance.easycgi.com/pages.aspx?content=49)
When I received the genetic report from Athena regarding the PKD diagnosis, there were “variant types” listed with “unknown changes”, which I understood to mean that they recognized something was different but that they did not have enough research available to identify what the changes meant. I cannot help but wonder if someday they will eventually be able to identify other health related issues based on those changes, but that they just have not had enough research completed yet. I should also point out that it was specifically the PKD1 gene that was affected for both Amanda and me.
For the reasons outlined above, I am not totally convinced that the condition on Amanda’s scalp is not a rare manifestation related to PKD in some obscure way??? While researchers have learned a great deal in recent years regarding PKD, they still have a lot to learn so who knows. I personally have no medical background, but as an individual and mother of a child with PKD, I have read a lot of information and can’t help but wonder when I see the same diseases linked in various ways????? That is one of the positive aspects of doing genetic testing. They now have our blood/DNA available to study for research that I hope will in some way aide families in the future.
Tuesday, February 19, 2008
Dealing with the Unknown
Amanda had a follow-up at UCSF with the medical team that is following the condition on her scalp (Cutis Verticis Gyrata). The appointment went pretty well for the most part. A new doctor joined the team so we went backwards and discussed all the tests over the last few years to bring her up to date. I did find it interesting that the new doctor comes from a background in alternative medicine. I was glad to see the combination of medical styles.
In the course of their discussion, it was suggested that it was time for a follow-up with her Neurologist. The growth and swelling were actually down from previous visits, but since she had two odd episodes in November and early January that included dizziness, headaches, and hair loss, the team felt it should be re-discussed/reviewed.
The team has a tendency to talk/theorize amongst themselves while standing in the room with us. The lead doctor explained to the new team member that it might also be helpful to go back and check to see if anything new has been published on the condition since they last looked, that “this is just so rare, we just don’t know.” Oddly enough, I found the fact that they were honest and comfortable enough to admit that they do not know what to expect refreshing after seeing so many doctors that tried to brush it off mainly because they had no idea where to start.
We realized early on that we were dealing with the unknown. With only six documented cases available for their comparison a few years ago, we just have to trust in the fact that these doctors are rated among the best in the world and will do all that they can. It is hard sometimes not knowing what to expect, what the possible outcomes may be etc.
In the course of their discussion, it was suggested that it was time for a follow-up with her Neurologist. The growth and swelling were actually down from previous visits, but since she had two odd episodes in November and early January that included dizziness, headaches, and hair loss, the team felt it should be re-discussed/reviewed.
The team has a tendency to talk/theorize amongst themselves while standing in the room with us. The lead doctor explained to the new team member that it might also be helpful to go back and check to see if anything new has been published on the condition since they last looked, that “this is just so rare, we just don’t know.” Oddly enough, I found the fact that they were honest and comfortable enough to admit that they do not know what to expect refreshing after seeing so many doctors that tried to brush it off mainly because they had no idea where to start.
We realized early on that we were dealing with the unknown. With only six documented cases available for their comparison a few years ago, we just have to trust in the fact that these doctors are rated among the best in the world and will do all that they can. It is hard sometimes not knowing what to expect, what the possible outcomes may be etc.
Tuesday, February 12, 2008
New Year, New Changes
2008 started with a bang, bringing major changes to our household. With the new changes came new decisions.
After 23 years with my company, my position was eliminated. My last day was January 31.
I started working when I was 16. I am unemployed for the first time in my life, and now need to decide what I want to do next. The travel industry has been in turmoil for years and clearly does not offer any job security, so I definitely will be looking for something else.
With all the stress that my family and I have endured the last two years, I can’t help but consider the value of choosing a less stressful career. The strain from my job in December and January definitely caused pain in my right kidney, which for me proves that stress does advance the disease. I am assuming that what I felt was the cluster of cysts in that kidney. I can’t seem to get an appointment with the Nephrologist that I was referred to, so I guess I will be going back to my primary care physician for a basic physical and insisting that he check my renal function at the same time. If all is ok, I will wait for the Nephrologist that he recommended, otherwise, I will insist on someone else.
After 23 years with my company, my position was eliminated. My last day was January 31.
I started working when I was 16. I am unemployed for the first time in my life, and now need to decide what I want to do next. The travel industry has been in turmoil for years and clearly does not offer any job security, so I definitely will be looking for something else.
With all the stress that my family and I have endured the last two years, I can’t help but consider the value of choosing a less stressful career. The strain from my job in December and January definitely caused pain in my right kidney, which for me proves that stress does advance the disease. I am assuming that what I felt was the cluster of cysts in that kidney. I can’t seem to get an appointment with the Nephrologist that I was referred to, so I guess I will be going back to my primary care physician for a basic physical and insisting that he check my renal function at the same time. If all is ok, I will wait for the Nephrologist that he recommended, otherwise, I will insist on someone else.
Wednesday, January 2, 2008
Appalled by medical appointment/treatment
I met with my primary care doctor today to discuss a lingering cold that was quickly turning into a sinus infection, and to request a referral to an adult Nephrologist. By the time I left, I was very disappointed in the way I was treated. It was a quick reminder why I avoid seeing doctors in the first place.
First, the nurse was short and curt, asking how I could have been diagnosed with Polycystic Kidney Disease if I had not been in to see Dr. Williams for such a long time. Then, when I explained that Dr. Williams had ordered the genetic tests based on a conversation with Children’s hospital staff, and that rather than reviewing the positive results with me himself, he had his front office staff arrange for me to pick them up, she still seemed very confused. I actually had to show her in the file where the test results were stapled and where Athena Diagnostics detailed the diagnosis. I then told her I was surprised that Dr. Williams did not call me to discuss such a serious positive test result in person.
I could hear the nurse talking with Dr. Williams before he entered the room. He too was short, and rude. I quickly had to re-explain everything to him again, and then request a referral. I was very disappointed that he had no idea what I was talking about. How can a doctor receive a positive test result, and not even know anything about it. Isn’t that what a primary care doctor is supposed to do….manage your medical care? When I explained that Amanda’s pediatric Nephrologist reviewed the Athena test results with me and suggested that I see an adult Nephrologist to discuss the drug trial programs, he actually got a smirk on his face and said, “it may not work, it is just a trial you know.” All of his answers after that were sarcastic.
Anyway, I did at least leave with a referral and a mental note to myself to find a new primary care doctor a.s.a.p! Clearly, it is up to me to manage my own medical care, and when I finally do take the time to see my doctor for advice, I would rather that they skip the rude sarcasm.
First, the nurse was short and curt, asking how I could have been diagnosed with Polycystic Kidney Disease if I had not been in to see Dr. Williams for such a long time. Then, when I explained that Dr. Williams had ordered the genetic tests based on a conversation with Children’s hospital staff, and that rather than reviewing the positive results with me himself, he had his front office staff arrange for me to pick them up, she still seemed very confused. I actually had to show her in the file where the test results were stapled and where Athena Diagnostics detailed the diagnosis. I then told her I was surprised that Dr. Williams did not call me to discuss such a serious positive test result in person.
I could hear the nurse talking with Dr. Williams before he entered the room. He too was short, and rude. I quickly had to re-explain everything to him again, and then request a referral. I was very disappointed that he had no idea what I was talking about. How can a doctor receive a positive test result, and not even know anything about it. Isn’t that what a primary care doctor is supposed to do….manage your medical care? When I explained that Amanda’s pediatric Nephrologist reviewed the Athena test results with me and suggested that I see an adult Nephrologist to discuss the drug trial programs, he actually got a smirk on his face and said, “it may not work, it is just a trial you know.” All of his answers after that were sarcastic.
Anyway, I did at least leave with a referral and a mental note to myself to find a new primary care doctor a.s.a.p! Clearly, it is up to me to manage my own medical care, and when I finally do take the time to see my doctor for advice, I would rather that they skip the rude sarcasm.
Wednesday, December 26, 2007
Telling Your Friends & Family
Amanda’s Nephrologist and I had discussed the importance of notifying my family of the genetic results so that any family members suffering high blood pressure could decide if they needed/wanted to check and see if they actually had PKD as well. It was my intention to discuss it with them when I saw them all Christmas day, but somehow I just did not feel that the timing was right. Christmas is supposed to be a day of fun and family, not intense news of a potentially life threatening condition.
I actually have 8 other siblings (yes, I am one of nine). Several have had high blood pressure over the years, but no one has ever been diagnosed with PKD until me. There is a possibility that I self mutated the gene myself, but since our mother was adopted, I feel that I have a responsibility to tell them. If there were a family history on my mother’s side, we would never have known. I didn’t want to sound depressing on Christmas, but really, how does one tell friends and family about something like PKD.
I guess I will be making several telephone calls now to explain the situation, and then leave it up to them to decide how they want to handle it and if they want to follow-up with their own doctors.
I actually have 8 other siblings (yes, I am one of nine). Several have had high blood pressure over the years, but no one has ever been diagnosed with PKD until me. There is a possibility that I self mutated the gene myself, but since our mother was adopted, I feel that I have a responsibility to tell them. If there were a family history on my mother’s side, we would never have known. I didn’t want to sound depressing on Christmas, but really, how does one tell friends and family about something like PKD.
I guess I will be making several telephone calls now to explain the situation, and then leave it up to them to decide how they want to handle it and if they want to follow-up with their own doctors.
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