What I am Thankful For - Happy Thanksgiving!

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

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

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.

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

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…..

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

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

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

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 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

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.