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.
Friday, March 14, 2008
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.
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