September 22, 2012
Rewind! Before my bone marrow so rudely interrupted, landing me in the hospital a couple weeks ago, I had a fair amount of news accumulated. And since then, I have a few other interesting tidbits to share. So before any other craziness pops up, I had better chronicle these events straight away!
You may recall that my mitochondrial DNA testing had been pending since last October. After awaiting the results for approximately forever plus 3 days, they finally returned! Although mitochondrial disease is not his specialty, the report was actually sent to Dr. Wilson, my hematologist/oncologist. We had an appointment a few weeks ago in which he did his best to relate the findings to my parents and me.
First, I will try to give a VERY basic explanation of the concept behind mitochondrial disease. Mitochondria are responsible for generating energy for nearly all cells in the body. Whenever the mitochondria do not function properly, the cells cannot do their job. Since mitochondria serve such a widespread purpose, mitochondrial disease can affect many different bodily systems. DNA testing for mito is not at all comprehensive because of the complexity of the illness. There are a few DNA mutations known to be correlated with mito, but it is likely that there are many more associated mutations that have yet to be discovered.
And with that being said, onto my results! One finding that was reported is that I have the GARS mutation. I contacted my geneticist in Los Angeles, and he believes that this very well could be a significant component in my case. He said that this mutation inhibits mitochondria from producing protein at an adequate speed, thus causing the mitochondria to be dysfunctional. Dr. Wilson is hoping to arrange an appointment for me with a neurologist here in St. Louis at Children's Hospital who is well-versed in mitochondrial disease, as well as Charcot Marie Tooth, a disease directly associated with the GARS mutation.
Also, I have an appointment scheduled in November with a highly respected mitochondrial specialist in Boston. Hopefully he will be able to further explain mito's role in my illness. Additionally he knows quite a bit about gastrointestinal involvement in mitochondrial disease. There is one condition in particular that I feel I should be tested for called mitochondrial neurogastrointestinal encephalopathy, or MNGIE. It is a very rare disease, but since when does my body discriminate against rare diseases? And interestingly enough, the one known cure for MNGIE is a bone marrow transplant, the same cure for HLH.
And speaking of HLH, next week my parents and I will be traveling to the HLH clinic at Cincinnati Children's Hospital. Dr. Wilson is an excellent doctor, and I am so glad to have him nearby. But I just saw him this week, and he will be the first to attest that my situation is very unique. Since HLH is typically found in babies and very young children, most doctors don't really know too much about how this disease can present in someone my age.
Reportedly there are two HLH experts in the world, one overseas and one in Cincinnati. Last November we went to the HLH clinic in Cincinnati, but Dr. Filipovich, the world-renowned HLH expert was out of town. So I was seen by some of her colleagues. I absolutely loved the GI doctor that I saw there. She noticed a lot of similarities between me and another patient she had seen whose GI issues vastly improved when the HLH was addressed. And furthermore, she was certain that Dr. Filipovich would see the remarkable comparison as well. So naturally it was disappointing to find out that I would not be seeing her during that trip.
But following the recent mysterious behavior of my bone marrow, my mom decided to email Dr. Filipovich for her opinion. She responded to us right away, and she thought it would be wise for me to be evaluated by her. I am thrilled to have her as a part of my medical team! If anyone understands HLH, even if the patient is a 21-year-old girl, it is Dr. Filipovich. I am really looking forward to my appointment with her next Wednesday! If you think of it, please pray for a productive consultation!
Whenever you reflect on the many diagnoses that I have collected over the years, it is difficult to fathom how one person can have so many different diseases. The truth of the matter is that only God truly has the key to this mystery. But what we can gather from our limited human knowledge is this: We believe that my mitochondrial disease acted as an underlying genetic predisposition, and that a trigger of infections, and who knows what else, allowed the mito to work havoc. And because mito has the potential to affect so many different areas of the body, it has caused me to have Hemophagycytic Lymphohistiocytosis (HLH), Gastroparesis, Reflex Sympathetic Dystrophy (RSD), etc.
Incidentally, September is Histiocytosis Awareness Month, and this past week has been Mitochondrial Disease Awareness Week. I really should work to spread more awareness than I do. Both diseases can be so devastating. Hopefully someday soon they will receive more attention and more research to find a cure.
Alrighty, now on to the fun stuff! As you have probably already deciphered, I am no longer living at Krista and Tim's house. Upon the completion of the renovation of our own home, we returned to Edwardsville last month!
So what does this chef think of her new kitchen? Let me tell you, it is even groovier than Peter Brady! (Raise your hand if he's your favorite Brady. Eh, don't bother. It's common knowledge that he is rather a dreamboat.) I have my own gadget drawer. Did you hear me? A GADGET DRAWER! Why, there is even a cookbook nook, and it is a beautiful sight to behold. And there is something so refreshing about having a cranny for each and every spice in my arsenal. And what with all of the cakes, pies, cookies, brownies, and breads I have created, I have become quite accustomed to my happy little workshop. Yes indeed, this new kitchen will do just fine. So swing on by sometime, and we will have ourselves a jolly tea party!
And just a few days after we returned home, Krista and Tim moved into their lovely new house! It is such a luxury having them so close to us now. In fact, Krista and Lulu walked to the park with Alice Eloise and me just yesterday! Sisterly bonding is one of the finest things in life.
Today I had the pleasure of visiting with some other family as well. My Aunt Sue and Uncle Wayne, who live in Kansas City, dropped by! I so enjoyed my time with them. And they delivered a beautiful picture frame from my little cousins. So to all of the Giles, thank you very much for thinking of me!
When I was a kiddo, I wasn't allowed to climb trees. You see, as a child my mom fell from a tree and broke her arm. I always pictured her perched up in the branches of a tree, having a dandy ole time. That is, until she came tumbling down. Recently, though, I learned that she was more hanging onto a lower limb, her feet perhaps only inches from the grass, and when she let go, she kind of just plopped to the ground. Last weekend Mom had a similar plopping experience, and no, she was not climbing trees this time. I am up every two hours in the night, and my mom always sets an alarm to help me. When she rolled over to turn the alarm off, she rolled a bit too far, and next thing she knew, she hit the floor. Oops! She says she's a wimp, but she kept right along with her regular routine for a couple days. When the pain wasn't abating, and she developed an enormous bruise the likes of which I've never seen, she finally went in for an x-ray. And the aforementioned wimp has a broken arm! Poor mama! Fortunately it is her upper arm, so she doesn't need a cast. The pain dictates what she should and should not do. I sure hope my buddy feels better soon!
I know that a few months back I was celebrating the beauties of Spring, positively certain that such glorious days there had never been! Call me fickle, but these days I am just frolicking about, so to speak, in this magnificent Fall weather! Surely life could not be any grander than it is now, right? Alice Eloise has quite the fan club in our neighborhood, so we are enjoying seeing our friends out and about. Also, the little Doodle and I have taken to spending relaxing afternoons reading in the fresh air. And don't get me started on autumn-time cooking... Pumpkin pie, applesauce, YUM!
I already find myself wondering, "How soon is too soon to set the thermostat to heat mode?" The other day ago I took note of the fact that this year I never transitioned from Christmas music to everyday music. I won't apologize for that, though. You see, it's my favorite! Needless to say, I'm prepared for THE MOST WONDERFUL, jovial, miraculous time of the year. On those chilly winter mornings, sometimes the only way my mama can get me out of bed is to turn the heat on so I can put on a giant t-shirt and sit on the register, quite reminiscent of Marilyn Monroe. Somehow my t-shirt hasn't affected pop culture quite like Marilyn's dress did. Oh bother. Regardless, I simply adore seasons!
Thanks for checking in! I am sure you will be hearing from me following my Cincinnati appointment.