Cranberry Tea Time

New health updates can now be found on my blog, One Day at a Time. 

Health update:

An update is long overdue!  It is hard for me to keep up with the big updates I have been doing on my website, and so they keep getting pushed off.  The longer I have to push it off, the bigger the update gets.  Then it gets harder and more impossible to do.  It's a vicious cycle!  As a way to make things easier, I have started a blog.  I hope to be able to do small updates frequently.  The blog also has a much easier editing program, making updates simpler and more time efficient.  This will be my last health update here on my website.  The website will remain, and I may make changes ocassionally.  Primarily, though, I will keep in touch through my blog.  You can check it out here: One Day at a Time. 

Now, onto my actual health update.  The tests from Dr. Cohen so far have not shown anything diagnostic.  This is neither good news or bad news.  It is just no news.  The problem with mitochondrial disease is that there aren't any tests to rule them out.  It is very possible that I have one, but the tests have been inconclusive.  There are still more DNA tests to be done, but the preliminary test results don't give clear enough direction for where to procede next.  Dr. Cohen said that he would be happy to evaluate me again in the future, but for now we've hit a road block.  If/as my symptoms continue to get worse, I will go see Dr. Cohen again.  Perhaps new symptoms or new severity in my symptoms will give him a better idea of which DNA tests to run next.

I have had a lot of troble in the past few months with brain fog.  I am usually a little "foggy," but lately it has been worse (adding to the difficulty of website updates!).  On some days the brain fog has been very bad.  It has gone beyond just brain fog into more severe cognitive difficulties.  On one weekend in particular I was very confused.  Our apartment no longer looked familiar to me.  I forgot to eat and drink, and Will had to remind me regularly to do so.  I could not carry on a conversation.  At one point I forgot who my son was when I saw him.  That was very scary.  Thankfully, Will was here to help me through the difficult weekend.  We also have wonderful neighbors who have volunteered to be on call whenever I need help.  I have had difficult days since then, but I am now able to recognize the warning signs and rest before the cognitive difficulties become too severe.  My doctors have wondered if I'm having some seizure activity in my brain during these times.  The general consensus, though, is that my brain just isn't getting enough blood flow despite medication and compression hose.  The best treatment is just to go to bed and keep my feet elevated. 

I'm in the process of doing a new med trial, which has been difficult.  I often get the side effects without the benefits.  The jury is still out on whether or not the med is helping.  Meanwhile, I'm just hangning in there as best I can.  My mom is here to help out while I work through problems with my meds. 

Regular Life Update:

We have moved!  We are now living in Kentucky so that my husband can attend Seminary.  Moving was very hard on me physically, but with a lot of help from my family I am managing.  We have been in Kentucky for almost 6 months now.  There is still some unpacking to do, but we are mostly settled in to our new apartment. 

William really likes his new big bedroom with his little bed and all of his toys.  Will is doing very well in seminary and is enjoying his classes.  I like living in a small apartment.  It is much easier for me to get around.  We have some wonderful neighbors and have quickly made friends with them.  We are so thankful for the opportunity to be here.  God has been providing for our needs, and it has been amazing to watch Him open all of the right doors, and provide a way for Will to go to seminary.

I'm tired and won't be checking this for grammar and punctuation mistakes.  I've been working lately on simplifying and being efficient.  I can't be a perfectionist like I used to be.  It's just not physically possible anymore.  So this might not be the perfect update, but at least it is complete!  There is now one more thing I can check off my to do list.  Ahhh....

Thanks for reading my website.  I appreciate all of you who care about me enough to read my ramblings! :)  If you want to keep in touch with me, don't forget to check out my blog, One Day at a Time.  The web address is: www.cranberryteatime.blogspot.com 

Health update:

My sister is bugging me about putting an update on my website, so here it is!  There actually isn't much to tell at this point.  The preliminary blood work came back from Dr. Cohen.  There were some abnormalities, but not not enough to make a firm diagnosis.  He is currently working on testing the tissue from the biopsy as well as doing DNA testing for a specific mitochondrial disease.  My  job at this point is to just wait.

I did try the new med, Epogen, for a month.  I was not able to continue taking it because it caused an increase in my fatigue.  I'm glad I had the opportunity to try it, but I'm a little bit glad that it didn't work because it is a painful shot!  I would rather have an easier-to-take, less painful medicine.   

Health Update:  

In February I went to see Dr. Cohen in Ohio about the possibility of a Mitochondrial Disease.  I really liked Dr. Cohen.  He was very kind, very knowledgeable, and very thorough.  He spent about an hour with us simply getting a detailed medical history, after which he ordered numerous tests.  I had 14 tubes of blood drawn – they are checking everything!  He also had me stay at the clinic for a few more hours so that they could do a skin biopsy (Fortunately, I didn't need the muscle biopsy that I had previously been told would be necessary).  They are now cloning my skin so that they can grow more as they need it over the next few months and years to do further testing.

In all of these different tests, one of the things Dr. Cohen is looking for is a genetic mutation in the mitochondrial DNA. There are over 40 known mutations.  He said I might have one of those, or that they may find a new mutation.  He is also looking for anything that may be missing in the metabolic pathways to the mitochondria, such as a specific vital enzyme or chemical.

I asked Dr. Cohen if he thinks that I have a mitochondrial disease.  He said, “Yes, definitely.”  He said that the task before us now is to find out which one.  Depending on which specific mitochondrial disease I have, there may be a treatment option.  However, treatments to reverse or stop the progression of mitochondrial diseases are very rare. Dr. Cohen also said that we may find out what is wrong, but not be able to do anything about it, and that my health may continue to degenerate.  We’ll just have to wait and see.

I'm glad to be getting some more answers, even if they aren't the answers I'd like to hear.  As my health problems have continued to progress in severity over the years, with little response to treatment, it has become apparent that I have much more than POTS going on.  Dr. Cohen is the third doctor now to admit that, yes, I have something degenerative.  Hopefully we can find out what.  That would be helpful in and of itself.  I would just like to know what is going on and what I'm facing, even if the news is very bad.

That’s what I know for right now.  It will be a couple more weeks, at least, before we hear anything back about the tests.  It could be months before they find something definite.  I will post another update when I have more information.

Regular Life Update:

The most recent medication I tried did not help my symptoms at all, so we are moving on to my final treatment option.  I received good news from my insurance company last week -they have decided to cover Epogen for me!  Yes, they are approving coverage for the $12,000 a year med.  I will be starting the weekly injections next week.  The Epogen is by no means a cure.  It may relieve some symptoms, or it may not work at all.  I'm very thankful, though, just to have the opportunity to try it and see if it helps.  Epogen could potentially help in two ways.  One, it increases red blood cell count, which will increase my blood volume.  Two, it acts as a peripheral vasoconstrictor, meaning it helps to constrict blood vessels in the arms and legs.  Hopefully the increased vasoconstriction will help my blood to circulate instead of pool in my extremities.

I've been having more and more difficulty digesting food as time goes on, so last week I went to the hospital for a gastric emptying study.  Will took me over in the morning, I donned some rubber gloves and ate a radioactive egg.  I then laid on a bed for two hours while the techs took constant x-rays of my stomach to see if it was digesting food properly.  The results came back showing a neuromuscular disorder called Gastroparesis, which is a fancy way of saying that my stomach digests much too slowly.  Symptoms include daily nausea, feeling full quickly, not getting hungry, abdominal pain, and difficulty maintaining weight.  Gastroparesis is something I've suspected for quite some time, I just hadn't had the test yet.  Confirmation of the diagnosis is yet another sign that my autonomic dysfunction continues to progress. 

This isn't specifically about my health, but for those who may be interested, the Discovery Health channel will be airing a program on dysautonomia next week.  At 10pm on Monday January 28, 2008 the second portion of the Mystery Diagnosis show will be about a woman named Linda who has dysautonomia.  The Discovery Health's website TV schedule says the following:

Health update:

Will recently took me to Ohio to see a specialist, Dr. Grubb.  The trip went well, and we were even able to have some fun.  While in Ohio I had the opportunity to visit with a dear dysautonomia friend, Melissa. Later on in the week we were also able to visit my sister, Krista.  The visits were tiring, but very much worth it!  Here is a picture of Melissa, Will, and me.  Unfortunately, I don't have any pictures from my visit with Krista.

The visit with Dr. Grubb was a good one.  He was very kind, compassionate, and knowledgeable.  It was nice to go to a doctor who knows so mucha bout dysautonomia.  As I was telling him about my medical history it was so neat because he "got it."  Plus, he started to put pieces together that no doctor has before.  He was able to see the whole picture, and not just POTS plus a few other random symptoms. 

There isn't much more that can be done for me as far as dysautonomia treatments go.  Dr. Grubb said that there are only two medications left for me to try.  We are currently doing one med trial, but as of today I've received no benefits from that med.  When we are finished with this medication trial, I will hopefully try the last med.  It is an injection that runs at least $12,000 a year, however, so I'm not sure if my insurance will cover it.  They have alreayd denied me for 3 other medications that are much less expensive, so I'm expecting a denial for the $1,000/month med as well.  One of the most frustrating things about dysautonomia is trying a medication sample from a doctor, finding that it acutally relieves a symptom, and then not being able to continue taking it because of insurance not covering the medication.

Before going on with life as it is, there is one more road we must go down for testing and possible treatment.  Based on my medical history, early onset, symptoms, severity of symptoms, progression, and lack of response to treatment, Dr. Grubb thinks that I have a mitochondrial disease.  There are many different types of mitochondrial diseases, and they are generally considered progressive.  There are no cures for them, and treatment usually just slows progression.  This area of medicine still has many unknowns.  It is even more confusing than dysautonomia, if that is possible!  If you would like to read a short article that gives an overview of Mitochondrial Disease, here is one that is easy to understand: Mitochondrial Disease.

In two months we will again be traveling to Ohio, this time to see a specialist in the area of Mitochondrial Diseases, for evaluation, blood work, and a possible muscle biopsy.  Knowing for sure if I have a Mitochondrial Disease may not help much in the the area of treatment, but it would be nice just to know if I have it. 

One really cool thing about my visit with Dr. Grubb was some of the dysautonomia history that he shared with me.  There are actually medical papers as early as the 1800s that clearly describe POTS.  There is even a painting from the 1600s that appears to be of a woman with POTS!  If you'd like to see the painting, it is now on my Dysautonomia page.

Regular Life Update:

Our son, William, has now turned 2 years old.  We had a simple, but fun, celebration here at home.  William loved the balloons, the cake and ice cream, and the fish that were on his cake.  He carried the fish everywhere for a week, and still likes to sleep with them sometimes.  William still plays with the balloons that he piled into the bathtub, and he also now likes to watch the video of his birthday party.  Fun times. :)

William is learning new words and new tricks all the time.  The newest additions to his vocabulary are: nope, no way, chips, Christmas tree, abc's, seat, food, Veggie Tales, fish, love you, and mama-mia!  His newest tricks are: turning on/off the lights, turning on the gas fireplace with the flip of a switch, navigating around in my wheelchair, and piano playing that actually sounds good!

My sister, Krista, came home from college for Christmas break last week.  We are all glad to have her home for the holidays.  William was so excited when she came home that he could not contain himself.  He was running about the house like crazy!  He has settled down now, though, and is showering Krista with hugs, snuggles, and an occasional kiss. 

At the end of this month Will and I will be celebrating our 5th wedding anniversary.  We don't have any fancy plans, but perhaps Aunt Krista will be willing to babysit William so that we can go out for dinner.  (Hint, hint, Krista! :) ) We thank the Lord for 5 wonderful years together, and pray for many more.