Recent Updates:

January 10, 2009

My apologies for the lack of updates. It's been a very busy several months.

I've had a lot of challenges with my health in recent months, including a decline in my thyroid function and several gynecologic issues. I'm in the process of getting tests for both of those issues, and we expect new meds will help.

I should be getting results from Mayo Clinic regarding my kidneys very soon.

June 24, 2008

It's been a long time since I updated this!  My winter was pretty bad healthwise with a couple of nasty viruses that really threw my underlying medical issues for a loop.  So there were doctor's appts, urgent care visits, IVs, extra meds, etc.  Yuck, yuck, yuck.

This mid-year of 2008 has been better so far.  The only big news is that I have an unusual overgrowth of cysts in my kidneys, so Mayo Clinic is doing genetic testing on my blood to try to pinpoint the underlying issue with that.

Upcoming appts include my annual physical, pulmonary testing and appt, and another round of kidney tests at the end of summer.

October 14, 2007

I had a bunch of medical appointments at the end of summer.  My pulmonary testing showed some odd changes (lowered diffusing capacity), and I had an x-ray and a scan to follow up on that and both were normal.  So we don't know what's going on there.  My hematology appt was fine (my blood counts look reasonably OK).  My hematologist is leaving the practice of medicine at the end of 2007, so I'll have a new doc in 2008.

My gyn system is driving me a little nuts, so we're going to go ahead with some hormone manipulation again and hope that helps at least one of the problems I'm having.  I will start the new meds on Oct 20 or 21.

August 4, 2007

Things have been very quiet with my health lately. My gynecological system has calmed down a bit, and the excess tissue growth seems to have lessened somewhat and the pain has lessened as well. That's good news! No interventions needed right now.

I'll see my hematologist in late August (and we're waiting for some big hematology results from NIH right now). I'll have pulmonary function testing on August 23rd and see my pulmonologist for results that same day. I'll see my primary care doc to follow-up on everything at the very end of August.

July 2, 2007

Things have been relatively stable with my health lately.  I saw all of my doctors this spring, and here are a few updates:

• I had an ultrasound of my kidney that showed things are stable with the little mass in there.  It continues to be tiny and looks harmless.
• My gynecological system is still causing problems, including pain and excess tissue growth.  I have another ultrasound on July 13.
• I'll have some additional pulmonary testing in August to follow up on asthma-like symptoms.
• My blood counts were a little lower than we'd like this spring, but we're keeping an eye on things.

March 17, 2007

I had good appointments with my hematologist and ob/gyn. For now, we are leaving things status quo (other than checking my blood counts a little more often) but we may need to pursue some additional treatment again for my thickened uterine lining. I'll see my ob/gyn again in early May for another ultrasound to check on things and measure it (it was about 23mm last month, and normal is 8-12 mm). I am also due to have an ultrasound of my kidneys to check on the cysts and angiomyolipoma in them. So it sounds like a busy spring, medical-wise, but I'm doing pretty well.

February 10, 2007

I continue to feel pretty well and haven't had any viruses yet this winter (knock on wood!). I will see my hematologist and ob/gyn on Feb 15th and 16th, and I'll have some tests and we'll figure out if we need to change anything or leave things status quo. So, a boring report from this end, but that's a good thing!

December 9, 2006

I had a pretty good autumn, medical-wise (and non-medical wise too!). I've had some increase in bleeding symptoms, but we're adjusting my medicines to help with that. I saw my endocrinologist on Nov 8 and my blood pressure was running really low at that time, but all my bloodwork looked pretty good and a small medicine adjustment seems to have stabilized things.

News from the NIH is that the dense granule deficiency in my platelets isn't as bad as previously thought, but some of my dense granules are abnormally small. (There's almost no literature about that so who knows what it means and what impact that has on clotting.) Speculation is that some additional bleeding-related abnormality will be found, but we're still waiting on another set of test results (from Europe) and my hematologist may run some additional tests in February.

September 30, 2006

Things have been much quieter with medical stuff for the last month. I had follow-up appointments in August with four doctors here. The only news from those visits was that I saw a urologist to follow-up on a small kidney mass found at the NIH, and he said I should have scans to check on the mass in the future but it's not really anything to worry about. No doctors appts in September! Yay! Hoping for more of the same in October.

I had one more set of blood work drawn for the NIH folks, plus routine labs (which were fine). I did make a change in my meds, going back to an older dosing schedule for my hydration medicine (DDAVP) and that seems to have helped stabilize my health after a really rocky spring and summer.

Things coming up: Just waiting for any news trickling in from the NIH, and also for insurance approval for another gynecology treatment that we hope will control bleeding and endometrial thickening.

August 20, 2006

I have returned from the National Institutes of Health, where I saw doctors who are studying my rare platelet disorder. I learned a lot from them (and had an exhausting week of tests!), and I hope they find the information from my platelets to be valuable. Find out more about that trip (including photos) on this page.

July 6, 2006

I've had an odd stretch of illness lately, believed to be caused by some as-yet-undiagnosed metabolic problem. One more test is still pending, and my symptoms are still up and down a lot. It's been very weird (even for me!).

Plans are completely on track for my trip to see the research doctors in early August. I'm looking forward to that -- it's just a huge relief to see doctors who know a lot about this platelet problem.

May 11, 2006

The big news here is that I'm going to a huge medical research center (in August) to see some doctors who are studying my platelet disorder. I am busily gathering all my medical records to send, and I'm looking forward to finally seeing doctors who know a lot about this disorder. They will keep me there for about five days and run a bunch of tests (blood work, scans, etc.) to assess whether I'm having any of the complications that some people get with this platelet problem.

Otherwise, my health has been pretty stable lately. No big updates or changes.

March 17, 2006

I had a rough winter with my health -- a respiratory infection (now re-diagnosed as probable whooping cough), a broken rib, and a D&C to treat a thickened uterine lining. I had a second, much wimpier respiratory infection in February. Nowadays, I'm feeling much better though! I'll see all of my docs again in the next three months, and I hope to have nothing to report. :-)

 

My Essays

Emerging from Illness (1997)

Ovarian Surgery (2000)

My Bleeding Story (2002)

Letting Go (2006)

Queen of Rare Disorders

I have two really rare medical problems and a couple of more common ones. I'll attempt to explain them all below.

Hydration Disorder (a.k.a. diabetes insipidus or "water diabetes")

I was diagnosed with my hydration disorder on October 26, 1993, when I was 20 years old. It is caused by a deficiency in a hormone called vasopressin (the anti-diuretic hormone), a hormone that helps the kidneys regulate fluid balance in the body. In a typical case, the main symptoms of the disorder are excessive thirst and excessive urination; in my case, because I don't have a normal thirst mechanism, the main symptoms were severe dehydration and excessive urination. Dehydration, of course, causes a lot of problems -- fatigue, low blood pressure, poor appetite, and so on. I was very sick with it in my early adulthood.

Treatment for me involves three shots of DDAVP per day to replace the hormone I'm missing. I also keep track of my weight and fluid intake and have regular blood work to check my electrolytes. I do quite well on this regimen.

Bleeding Disorder (delta storage pool deficiency)

I was diagnosed with my bleeding disorder on December 17, 2002 when I was 29 years old and just starting graduate school. It is caused by a deficiency of dense granules inside the blood platelets, which affects how the platelets function in the clotting process. My main symptoms were (and are) excessive bleeding -- nosebleeds, crazy menstrual periods -- and bruising. Treatment for me involves DDAVP shots (yes, the same thing we use for my hydration disorder) and a drug called Amicar. You can find more information about my bleeding story here.

My doctors and I have not found any documented cases of another person who has both my hydration disorder and this rare bleeding disorder. We wonder, am I the only one...?

Asthma

I was diagnosed with asthma on March 1, 2005 when I was 31 years old. I had been having problems with my breathing getting labored when I was walking or talking, and after a bunch of testing (initially negative for asthma), I was diagnosed with asthma. I sometimes take a daily steroid inhaler for it, but I can sometimes get along with just a "rescue" inhaler as needed.

Endometriosis

I was diagnosed with endometriosis during ovarian surgery on November 6, 2000 at age 27. My ob/gyn was surprised that I hadn't complained more about pain, but with a history of cramps and an ovarian tumor, how does one know what is "unusual pain" and what is just "normal for me"? I haven't had any noticeable symptoms of endometriosis since then, and we don't do anything to treat it. Endometriosis can be a very painful disorder though and can cause infertility issues.

Outside Links for Information

Diabetes Insipidus (hydration disorder)

Delta SPD
(bleeding disorder)

Qualitative Platelet Disorders

National Hemophilia Foundation

Asthma

Endometriosis

Mayo Clinic

MedLine Plus

Medic Alert Bracelets