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.

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.

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.

Why I Chose This Picture

When I decided to add a few pictures to my blog, I specifically chose the one of Amanda not only because it was a good picture of her that I knew she would not be upset by (she is a teenager and for her that matters), but I also chose it because I knew the real story behind the lens.

I realized early on in this journey that it was very important to Amanda that people not perceive her as being “sick”, and that she would go to any length to maintain the façade among the majority of her peers. When her symptoms first began to appear and we had no real diagnosis, people all around us began to whisper cancer, and made assumptions about the outcome. One mom even went so far as to make her a “special” blanket. Students in her classes made a few comments and asked questions, so she began to keep her symptoms low key when out in public. Only a few select friends and some of the school staff really know her situation, and I have agreed to keep it that way whenever possible.

I asked her during a conversation why she hides how bad she feels, and she responded that people do not want to be around sick people….they just see it as negative. As a result, she hides how she feels to all but those closest to her, or to those that are observant enough to recognize when she is just not herself.

On the surface, no one viewing the photo would have a clue that she was having a bad week and was feeling sick. In fact, earlier that day, her doctor saw Amanda due to a bad migraine headache that we believe was related to her scalp condition. Her doctor expressed concern about the hair loss that occurred since her visit a few weeks prior, and once again, blood work was ordered. Her primary doctor also suggested that we try to get her into the UCSF Medical center team that follows her case sooner than originally scheduled.

She was scheduled to have team photos taken with her cheer group that afternoon as well. I really did not see how she would pull it together, and was resigned to a group of photos that would not turn out well. She was so exhausted by the time we left the doctors office that she had to lay down for a ½ hr nap before getting dressed in her uniform. I was really surprised by her ability to step out of the car and cover how she really felt. No one in the group had any idea that she had a major headache and was losing large quantities of hair. Her hair was styled in a way that covered the thinning areas, and she pulled out a smile that hid how she was really feeling. The photo posted here is actually a group shot that I cropped to show just her. I was proud of her strength and determination to live life to the fullest. It would have been so easy for her to beg out of the shoot and just lay on that couch at home.

Final Report From Athena

Well it’s official. The final report arrived this afternoon from Athena confirming that I have PKD

The value of a family’s medical history

Throughout the process of determining a diagnosis for my daughter, the one question that every doctor asked was about family medical history. I thought we had a general idea of the overall health, but in reality, we were way off.

Both my husband and I are from very large families, and the fact is, people only mention the obvious or more serious ailments. At one point, I actually sent out an email to everyone in a desperate attempt to provide one of the many doctors a clue to family medical history that may help.

I guess my point to all of this is that knowing your families medical history does have value and should be discussed among family members. In my case, my mother was adopted; she did have contact with her maternal relatives, but we do not know anything about the biological father.

Preliminary Genetic Report from Athena

I decided to follow up on the results from my Genetic testing, and received a call back from a medical assistant (Brittany) at my doctor’s office stating that Athena had faxed a report to them. She than said that Dr. W. would not be interpreting the report for me; I would need to take it to Children’s Hospital and have the doctor their that requested it review it with me, and I could pick it up whenever it was convenient for me.

I picked up the report expecting some kind of scientific genetic report that would require a trained medical doctor to read being that Dr. W. would not be interpreting it, but for the most part, the results were already detailed in a “preliminary summary” by Athena Diagnostics’ staff.

The report clearly states that it is not final, and should not be relied upon for patient treatment until a complete analysis is finalized. The report did indicate that the partial analysis did detect the presence of one or more known or predicted disease associated mutations as indicated in the technical results area. Under the technical results area it shows positive known disease associated with PKD1 gene and the summary goes into a full description of the difference between PKD1 and PKD2 genes.

I guess I am a little surprised at this point and maybe in a little shock. I have never had problems with high blood pressure or other obvious symptoms for PKD that I was aware of, so seeing what I am interpreting as a positive results for PKD caught me a little off guard.

I did call Brittany and ask that she call me after they receive the final analysis and pointed out that this was only a preliminary report. It really appeared as though no one ever read the report to realize that it was not a final analysis. Part of me thinks I should wait for the final analysis, and the other part of me sees that as denial

Genetic Testing for PKD

Pros and Cons to Genetic Testing

Due to the various symptoms, and no known family history of PKD, my daughters Nephrologist asked that we do genetic testing to confirm her PKD diagnosis. The testing was completed by Athena Diagnostics, and confirmed a mutation in the PKD1 gene.

After confirming our daughter's diagnosis, her doctor subsequently asked that each parent undergo genetic testing as well. When I asked her why that was necessary, she told me that it would be helpful to her in predicting our daughter’s outcome. ie, if a parent was a non-symptomatic carrier, than our daughter may vary well follow the same course. If neither parent tested positive and our daughter was among the few that self mutated PKD, than she would be more concerned. We were willing to do anything that may help our daughter and therefore each of us has had genetic testing for which we are still in the process of waiting for results.

After we already began the genetic testing, I began reading more about PKD and that is about the time I found the PKD Foundation website. I would caution that if I knew the facts that I have since learned, I am not so sure we would have agreed to do the genetic testing, and I fault all the doctors involved for not providing more genetic counseling before we did this. First, even if either of us does test positive, our "non symptomatic" case may be very different than our daughters. If we have a positive diagnosis in our medical records, we may have more difficulty in securing medical or life insurance in the future, and in reality, this will not accurately predict our daughter’s outcome. (This I learned on my own through websites such as www.pkdcure.org)

I know I am a little crazed about reading everything I can on the internet, but I have also found more often than not that the doctors are not always upfront with the information that we should have been provided with while making decisions.

Diagnosed with Polycystic Kidney Disease

In order to explain the complexity of arriving at a diagnosis of Polycystic Kidney disease, I think I should explain that my daughter started with completely unrelated symptoms, or what at least appears unrelated. As I learn more about PKD, I am not so sure anymore. Anyway…..

In April of 2006, she came to me complaining about a “very” tiny lump on the back of her skull and fatigue. At first, I did not pay enough attention…..busy schedule, and frankly, I could hardly even feel what she was trying to describe. Within a week, she snapped at me during a conversation saying that I just did not understand how tired she was and that the lump was now two lumps. Upon examination, I found that she was right. The first lump was now bigger, and a second was developing. I did not sleep that entire night thinking how I could not have paid more attention, especially since my husband’s family had a history of childhood cancers that led to the death of two children under the age of 13. We walked into her pediatrician’s office first thing the following morning without an appointment.

It was the process of trying to discover what caused the lumps/ridging that continue to develop and grow even a year and ½ later that eventually led to the full body CT Scan that indicated the cysts in each kidney.

After consulting with a pediatric Nephrologist, her primary care physician ordered a renal ultrasound. I could tell by the length of time the tech spent measuring my daughter’s kidneys that she found the cysts mentioned on the previous CT scan. After she was done, the tech asked me if we had a family history of kidney cysts and seemed disturbed when I said no. While the tech did put effort in to diverting my view of the screen during the ultrasound, my daughter had a perfect view of the monitor and told me after they were done that she could see several of the growths herself. (I don’t think the tech expected a 15 year old to pay that much attention.)

Once the Ultrasound results confirmed the presence of “multiple bilateral fluid cysts,” my daughter was then referred to a nephrologist at Children’s Hospital in Oakland, CA

New to PKD

I decided to start this blog for several reasons. I found several websites that discuss PKD from a technical/medical perspective, but it was through the pkdcure.org website that I found other families surviving and dealing with the daily emotions that come with finding out that you have an incurable disease such as PKD. Realizing that the feelings I felt were so similar to those of the other members that shared their stories via their blogs also helped me realize that those feelings were normal. I am hoping that this blog will not only provide me an outlet to put those feelings and experiencesinto words, but that it will also provide others with the comfort of realizing that there are others out their going through the same thing.

I first learned about PKD in August of 2006. My 14-year-old daughter had a full body CT scan that was originally looking for cancer. We later received a call from her pediatrician saying good news, no cancer; however, we did discover multiple cysts in both kidneys. Her doctor went on to say she wasn’t completely sure what that meant, and had left a message for a nephrologist at Children’s Hospital to discuss the situation and would get back to me as soon as she had some answers. That was our first experience at running into a doctor that had never heard of polycystic kidney disease. That was over a year ago, and a lot has happened since then. I will follow with the details in another posting.