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.
Wednesday, December 26, 2007
Friday, December 21, 2007
Stress and That Little Nagging Side Pain
I have been under an enormous amount of stress this week, and tagging along with the stress came that little nagging side pain I get periodically. Now that I understand what is causing it (PKD), I am concerned that the stress may actually be advancing the disease. If anyone can direct me to information regarding how stress may affect PKD, I would appreciate it.
In the meantime, I guess I will add it to my list of questions to ask my doctor at my visit next month.
In the meantime, I guess I will add it to my list of questions to ask my doctor at my visit next month.
Tuesday, December 11, 2007
Nephrology Follow-up
We had a follow-up with Amanda’s pediatric Nephrologist today. Her blood work looked good, and there was minimal change/growth in the cysts between her original CT scan from a year ago and the recent renal ultrasound. She did have some protein in her urine, but nothing that concerned her doctor at this point.
We also discussed the results of the genetic testing from Athena. Her fathers test is not final yet, but the preliminary results look as though they will be negative for PKD. I do not think I mentioned that my father-in law is currently in renal failure and that Amanda’s great grandfather died from kidney failure. We have no idea what caused his failure, and her grandfather is currently being tested to determine what is causing his kidney’s to fail. (He is currently in stage 4 renal failure.) My husband has always had trouble with his blood pressure, and when the discussions of how my daughter got PKD first started, we assumed that it came from her father. We now know that the kidney failure on her paternal side is not PKD, but there is discussion that it may be something else genetic. Her Nephrologist is waiting to see the results of her grandfathers testing to see if we are actually dealing with more than one kidney disease, however unlikely that may be.
She did acknowledge that Amanda’s genetic results from Athena matched mine exactly.
In trying to predict a possible course that Amanda may take with the PKD, she asked about my medical history. I have not had problems with my blood pressure yet, but I have had some severe pain in my right side that I always assumed was related to the surgery I had to remove my gall bladder and I have had a history over the years of bladder infections although none recently. I do have major problems with cysts on my ovaries and within the uterus. A hysterectomy was recommended when I was quite young, but I rejected that suggestion and asked them to just remove the cysts. I have had 4 surgeries to remove cysts from my ovaries and uterus, but not one time did anyone suggest that the cysts might be caused by any other disease. Amanda’s pediatric Nephrologist stated that she was aware of ovarian cysts, but had never heard of cysts within the uterus being connected to PKD. She said that I needed to see an adult Nephrologist and that I needed to have a full physical to check my own renal function. I have not been in to see my regular doctor in a few years. I have taken so much time off for Amanda’s doctor appointments over the last two years causing strain at work that I have neglected keeping up with annual visits for myself.
Dr. B. reviewed some of the new medical trials in progress right now. Amanda is not old enough to participate, but she did feel that I may be a good candidate and recommended that I discuss the option when I met with my own Nephrologist so I guess I will get in to my doctor right after the holidays to discuss all of this.
Dr. B. felt that Amanda was doing well enough at this point that she did not need to see her again until late next year unless something changed in the meantime. (YEAH!) She wants her to check in with her regular doctor to have her blood pressure monitored and to notify her immediately if she begins to develop any urinary infections or major headaches. We left with instructions to have a full abdominal ultrasound a month prior to her next visit and of course the standard blood work.
I guess it is now up to me to schedule my own physical and to request a referral to an adult Nephrologist.
We also discussed the results of the genetic testing from Athena. Her fathers test is not final yet, but the preliminary results look as though they will be negative for PKD. I do not think I mentioned that my father-in law is currently in renal failure and that Amanda’s great grandfather died from kidney failure. We have no idea what caused his failure, and her grandfather is currently being tested to determine what is causing his kidney’s to fail. (He is currently in stage 4 renal failure.) My husband has always had trouble with his blood pressure, and when the discussions of how my daughter got PKD first started, we assumed that it came from her father. We now know that the kidney failure on her paternal side is not PKD, but there is discussion that it may be something else genetic. Her Nephrologist is waiting to see the results of her grandfathers testing to see if we are actually dealing with more than one kidney disease, however unlikely that may be.
She did acknowledge that Amanda’s genetic results from Athena matched mine exactly.
In trying to predict a possible course that Amanda may take with the PKD, she asked about my medical history. I have not had problems with my blood pressure yet, but I have had some severe pain in my right side that I always assumed was related to the surgery I had to remove my gall bladder and I have had a history over the years of bladder infections although none recently. I do have major problems with cysts on my ovaries and within the uterus. A hysterectomy was recommended when I was quite young, but I rejected that suggestion and asked them to just remove the cysts. I have had 4 surgeries to remove cysts from my ovaries and uterus, but not one time did anyone suggest that the cysts might be caused by any other disease. Amanda’s pediatric Nephrologist stated that she was aware of ovarian cysts, but had never heard of cysts within the uterus being connected to PKD. She said that I needed to see an adult Nephrologist and that I needed to have a full physical to check my own renal function. I have not been in to see my regular doctor in a few years. I have taken so much time off for Amanda’s doctor appointments over the last two years causing strain at work that I have neglected keeping up with annual visits for myself.
Dr. B. reviewed some of the new medical trials in progress right now. Amanda is not old enough to participate, but she did feel that I may be a good candidate and recommended that I discuss the option when I met with my own Nephrologist so I guess I will get in to my doctor right after the holidays to discuss all of this.
Dr. B. felt that Amanda was doing well enough at this point that she did not need to see her again until late next year unless something changed in the meantime. (YEAH!) She wants her to check in with her regular doctor to have her blood pressure monitored and to notify her immediately if she begins to develop any urinary infections or major headaches. We left with instructions to have a full abdominal ultrasound a month prior to her next visit and of course the standard blood work.
I guess it is now up to me to schedule my own physical and to request a referral to an adult Nephrologist.
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