New to PKD

Life Insurance Premium Increased

2011-08-17T20:41:00.000-07:00

I have often wondered what was going to happen the next time I applied for health or life insurance, and I just found out. I had a life insurance policy with a fixed monthly rate in place guaranteed for 10 years before I agreed to the genetic testing that came back positive for PKD. The policy was just up for renewal this year and I was required to release my medical records in addition to participating in a medical exam.

Even though the exam showed that my kidneys were functioning well within normal my insurance premium was still increased by 400% above the rate I was originally quoted based on my age, nonsmoker, etc. Yes, that 400%

The insurance broker even went on to say that “I would be surprised” at what they can pull up on a national database that shows my medical history for things discussed or tested even if they came back negative. While this information is supposed to be protected as confidential between a doctor and patient, you are required to sign a medical release when applying for a premium. It is bad enough that they increase your risk factor for things that “could” be a problem even though they are not at the moment, but I was very disturbed that I was also being “dinged” for asking about things that came back negative.

Annual Check Up 2010

2010-03-31T21:21:00.000-07:00

I finally took care of the lab work and ultrasounds that I had been carrying around since June 2009, and then met with my nephrologist, Dr. Helms, in January 2010. (Ok, 6 months is not great, but at least I finally got it all done.)

My blood work was ok for the kidney function, but still high on my blood sugar. My blood sugar has not been consistent so my doctor is now asking for a regular monthly lab work for one year to ensure that everything is ok. She explained that sudden spikes in sugar can be dangerous as well and wants to be sure that it remains stable. I used to wonder when someone would arrive at the lab and the receptionist would refer to a “standing order.” I always associated that with the elderly subset or someone “really” sick, so I am not sure how I feel about having my own “standing order” now. I am also wondering how I will manage to get to a lab once a month when it took me 6 months to get there the first time, but I am optimistic that I will make this a priority.

My ultrasound was another story. When I arrived, they made me wait another 20 minutes past my appointment time. Now that might not sound like a very long time, but when your bladder is near bursting when you arrive, 20 extra minutes is just torture. When they finally started the ultrasound, I thought it was odd that two technicians were present, but hey, I was just glad they were finally starting and did not think to ask any questions that might delay the process that would allow me to finally void my bladder. A few minutes into the ultrasound, the main Tech began discussing what she was doing with the 2nd tech, which of course took longer. I was a little confused over what was happening, but was just glad when she said I could finally void my bladder before they finished the rest of the ultrasound. When I returned, the main tech left, and the 2nd tech took over. Long story short, the 2nd tech was in training. The second tech took forever and forgot to tell me when it was ok to breath in between images. He then reviewed each of the images with the first tech before they told me it was ok to go. Normally, I would not mind allowing an intern to help with a procedure, but I would appreciate if they had notified me in the beginning. I also did not feel confident with the whole process in the end. When the written report arrived, there were some comments listed that referred to changes in the cysts, but that these could be the result of a “tech error”. I think that was their way of saying that the tech in training really did not know what he was doing without assuming any direct fault. Dr. Helms is now asking that I go to a different medical imaging facility and repeat the ultrasound to ensure that she is getting accurate information. Ugh, another painful bladder episode to come.

Not Such a Little Girl Anymore

2009-09-06T10:55:00.000-07:00

I realized while viewing my blog recently that Amanda is not so much a little girl anymore. She has grown a lot since I posted the original pictures.

When this journey into the discovery of PKD first began, Amanda was still in middle school...she is now a Senior in High School.

In light of the fact that the doctors were originally seeking cancer when they discovered that she actually had PKD and Cutis Verticus Gyrata, I am VERY thankful to see her grow and mature into a young women.

While various symtoms of her health issues plague her on occasion, she is doing extremely well in school and now coaches competitive gymastics in the afternoons.

Keeping Up with your Health

2009-09-02T19:55:00.000-07:00

Am I the only one out there that seems to have trouble keeping up with the important things in life?

I seem to make time to keep up with everything except my health....the most important thing of all. Without good health, everything else would slide.

I received blood test orders and paperwork for my anual ultrasound and mamogram back in June and I still have not even made an appointment.

I will make a point to get these scheduled.

Annual Checkup with Nephrologist

2009-06-26T18:48:00.000-07:00

I am in the process of my annual checkup with the Nephrologist.

Kidney function was good, but my blood sugar is getting higher with each blood test. Most recently, it was 118, which is well into the pre-diabetic range. I guess it’s time for a low glycemic diet.

I still need to schedule my annual renal ultrasound…hopefully nothing has changed or increased in size. Trying to fit all of these medical tests into a fulltime work schedule is getting tricky

What I am Thankful For - Happy Thanksgiving!

2008-11-27T07:47:00.000-08:00

Hello and Happy Thanksgiving!

With the Turkey in the oven and a few quiet moments in my house before the family rush, I actually had a moment to update my blog. I decided to start out with what I am thankful for this since it is "Thanksgiving."

I am thankful that my recent follow-up with the Nephrologist only revealed low sodium and potassium in the lab work. I don't recall if she explained the low potassium other than to say she was mailing me a potassium diet. She did say that the low sodium is caused by the PKD though. For some people with a Kidney Diseases, the kidney sends out mixed signals to the brain that limit your absorption of salt. Since I don't absorb salt properly, my blood was pretty low in sodium and she prescribed sodium bicarb pills to take daily. We will be redoing my lab work in February to see if that is working so while most people are to avoid salt, I am actually taking a sodium pill. Other than that, the kidney function was doing pretty well.

I am thankful that Amanda is doing well right now. She just had her annual ultrasound and lab work done on Tuesday, 11/24. Rather than just the annual renal ultrasound, they ordered a full abdominal ultrasound. I hope to get the results of that on Monday, but the tech did tell her that the cysts had not grown that much since last year, so that is good news. She will be meeting with her Nephrologist on December 2, so I will post a follow-up on how that goes after the appointment.

I am thankful that my son Michael has fully recovered from his skull fracture without surgery. He did wear a neck brace for a while, but that has now been removed. He is now showing me protective head gear to wear while playing soccer and begging to return as soon as possible...ah youth! I told him that while he was physically healed, I was not emotionally healed and to give me a little more time.

I am thankful that not only did I find a new job this year in an economy that is laying off rather than hiring, my new employer was also very understanding, amazing, and supportive while Michael was in the hospital. Not only did they pay me for part of time I was off even though I was still within my first 90 days and not eligible, staff members that barely new me came to visit us and sent care packages of food while he was still in ICU.

I hope everyone has a wonderful Thanksgiving!

Sacramento PKD Walk and a Family Emergency

2008-09-23T19:55:00.000-07:00

Well, where to start......

My family had planned to attend the Sacramento PKD Walk and did raise funds for research. However, we never did make it to the Walk.

My son Michael plays Goalie for his Soccer Team. During Saturday’s game, he dove for the ball at the same time several other members were running for it. Not completely sure whether he was kicked in the process or as the team members collided and fell if someone didn't land on him, but the end result was a skull fracture.

We had a very scary weekend. Immediately following the injury, he went into a Grand mal seizure, experienced a loss of consciousness, and then a loss of vision. An ambulance strapped him to a board and transported him to a local trauma center. After an initial CT Scan of his brain revealed the skull fracture and possible bleeding on the brain, he was transported to Children's Hospital in Oakland Ca where a pediatric neurosurgeon was called and waiting for his arrival. They did another CT Scan and decided the bleeding appeared to have stopped and surgery may not be necessary. He was placed in ICU for observation for 48 hours. We thought he would be released on Monday avoiding surgery only to have the neurosurgeon discover some possible damage to his neck. A MRI and a 3rd CT Scan was reviewed by a special team that decided surgery may be avoidable so long as he wears a special neck brace. They finally released him to go home tonight (Tuesday, September 23) with a series of medical appointments for follow-up

Obviously we missed the Walk....maybe next year???

Link to Walk for PKD

2008-08-10T21:23:00.000-07:00

Amanda & I have registered to Walk for PKD research in Sacramento, CA, on Sunday 9/21/2008. The following link will take you to our personal fundraising web page:

http://walk.pkdcure.org/site/TR/Events/Sacramento?px=1573402&pg=personal&fr_id=1852&et=TimBJKHC3-qlO030AkoKww..&s_tafId=22773

We walk because we can, and we both understand that there many others with PKD that are no longer healthy enough to walk.

PKD with cysts on the Ovary and Birth Control Options.

2008-06-12T08:00:00.000-07:00

Amanda has been experiencing several problems with her menstrual cycles including extreme cramping, back pain, heavy flow, and irregular cycles. (Some cycles are barely 2 weeks apart.)

Normally, her doctor would simply prescribe birth control to help ease and regulate the cycle, but prescribing birth control to someone with PKD can have its own risks, and with the unanswered questions regarding her other health issues, she felt that Amanda should see a gynecologist to rule out any undiagnosed health problems.

A visit to the Gynecologist resulted in another pelvic ultrasound. I think the staff at the medical imaging center knows us by sight now. Anyway, the ultrasound showed multiple cysts on the ovaries, another complication of PKD, and freestanding fluid in the cull de sac. The free fluid is most likely the result of a cyst that burst which would also explain the extreme cramping.

The Gynecologist suggested a form of birth control that she felt was the safest for patients with a kidney disease, low dose, less likely to increase her blood pressure, so we will how that works out.

Amanda is not thrilled about taking another pill everyday, so if anyone has suggestions on other options of birth control that may help regulate her cycle without raising her blood pressure we are open to any and all ideas.

Score One for the Insurance Company

2008-06-11T13:34:00.000-07:00

About the same time that I received the lab work back indicating the need to reduce my weight, I also received a call from my health insurance company introducing a program called Cigna Well Aware. The Cigna Well Aware program is designed to provide home support for a variety of health issues through personal phone calls from a trained nursing staff, a website, and written materials mailed to my home.

I explained that my goal was to reduce weight to avoid the risk of diabetes, and to eliminate the strain on my kidneys. It was also in the back of my mind that if the need ever did arise in the future for a kidney transplant, that I may not be eligible based on my excess weight so I guess there is no time like the present to avoid a potential problem in the future.

I read the results of my last blood test to the nurse, and she explained what the results meant. She also set some small goals for regular exercise through out the day even if it meant getting up from my computer and walking around the office, block, etc, she arranged to mail me some weight loss material, and setup another phone call to check in with me.

Most insurance companies have a website available to review a variety of health issues, but taking the extra step to call members and offer support was nice extra touch.

Behind on Blogging…..

2008-05-21T12:51:00.000-07:00

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.

Doctor Appointment for Margaret

2008-03-14T12:36:00.000-07:00

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.

PKD and Tuberous Sclerosis

2008-03-12T12:42:00.000-07:00

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.

Dealing with the Unknown

2008-02-19T13:26:00.000-08:00

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.

New Year, New Changes

2008-02-12T20:45:00.001-08:00

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.

Appalled by medical appointment/treatment

2008-01-02T17:48:00.000-08:00

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.

Telling Your Friends & Family

2007-12-26T17:39:00.001-08:00

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

2007-12-21T20:00:00.000-08:00

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

2007-12-11T08:18:00.001-08:00

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

2007-11-30T09:30:00.000-08:00

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

2007-11-20T19:53:00.000-08:00

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

2007-11-13T15:23:00.000-08:00

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

2007-11-10T12:11:00.000-08:00

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

2007-11-07T16:24:00.000-08:00

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

2007-11-06T16:27:00.000-08:00

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

2007-11-04T19:37:00.000-08:00

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.