What Mitochondrial Disease Means to Me

Unlike most people, the first word that comes to mind when I think of Mitochondrial Disease is friendship.  This may come as a shock since this disease does not have a cure, nevermind any proven treatments.  I feel if it wasn't for this disease I would be a different person all together.  My personality would probably be different and I may be interested in different things.

Because of Mito, I have three mito sisters...

Chelsea, myself, Sarah and Stefani after sledding in February(?).

I know for a fact that if I did not have Mitochondrial Disease I never would have met my mito sisters.  I knew Stefani on Facebook long before finally meeting her at last year's UMDF (United Mitochondrial Disease Foundation) Walk-a-thon where I also met Chelsea.  Ironically, Chelsea and I used to live within 4 blocks of each other, but we didn't actually meet unit well after we each moved.  I met Sarah at a mito mother's son's birthday party.

While I received my diagnosis almost 10 years ago, my sisters were only diagnosed in the past year and a half.  Mitochondrial Disease has many different symptoms and combined we probably have all of them.  Three of us are tube fed and three of us have a PICC/port/Broviac, but only two have both.  Since there is so much overlap, rarely is there a time where I have a symptom or question and they have no idea what I'm talking about.  (This article has some other information about Mito and how it has influenced our relationship.)

Better yet, when I need a new specialist who is familiar with Mito, I have three experts who I can count on for advice.  Since there are few doctors who understand Mito, 90% of my doctors also know one if not two of my mito sisters.  The only doctors I don't share with my sisters are PCP, Pain Management (Baclofen pump), and Neuro (CHOP).  All of the others I see regularly are shared, which can make appointments interesting since sometimes one or two of my sisters may also have an appointment or two close to at the same time as my own.  Random meet-ups can me quite frequent, but most of it is up to chance.  One week about two months ago, one of my sisters had the same number of appointments as I did, including two with the same practitioners, GI and Nutrition, all at the same hospital (MGH), in the same office.  I think I saw her three times, and every time is as good as the last if not better!

Sometimes just one of us is inpatient, sometimes two, rarely three, but about two weeks ago, all us were in the hospital at the same time.  To truly understand how low these chances are, consider this;  in my entire 24 years I've only been inpatient about ten times, three of those were in the past year for elective surgery.  My sisters have had about the same number of admissions, but they've been much more concentrated, occurring within the past year.  Initially, two of us were at MGH and one was at Lowell General Hospital.  I was the only one whose admission was planned, my sisters just wound up inpatient at the same time.  At one time, Chelsea was down the hall from me on a different unit, but I wasn't in any shape to visit her, and she wasn't leaving the ICU.  At that point one of us was still free of the hospital band, but that changed when she was visiting me and received a call from one of our doctors to go to the ER.  From then on, we were all inpatient.  

While I never, ever want to repeat all of us being inpatient at the same time, it was comforting to know three of us were under the same roof together but separated by walls, doors, and floors.  Since my mito is mostly stable, I'm used to being the visitor or sometimes a ping-pong ball going back and forth splitting my time between my sisters who are inpatient.  This time, I really wanted to be with them but couldn't not because I was "too busy" or was inpatient myself, but because I had just had the most painful surgery of my life.  My heart was with them, but my body couldn't be.  It was so hard to know the three people who understand you most and in ways parents and non-mito friends cannot truely comprehend are also struggling in their own ways, yet you cannot be there for them.  I desperately wanted to break out of my room to see them, even if only for 15 minutes, but knew that wouldn't go very well if the simple act of breathing caused intense pain.  After all, most would like a visitor who can breathe. 


The day after my G-tube surgery

Stef (with Beast) at LGH

Chelsea (with True) 


While the subject of this post is by no means positive or good, its core is about something stronger than any disease or illness.  Mito can repeatedly ruin our plans to get together, but it cannot and will not break the bond we share as a result.  Yes, I may be living in PA temporarily, but my heart and soul is in Massachusetts with my sisters Chelsea, Stef and Sarah.

Hope

Over a month ago, I had a really bad week which began with allergies, but turned into more of a cold and ended with my first trip to ER for an asthma flare.  Prior to this, Asthma had always been a diagnosis that had been followed by a question mark because some of my doctors were sure I had it, but others looked at me like I had three heads when I gave my history of medical conditions.

I haven't felt the same since that week which is quite frightening.  Having Mitochondrial Disease means it takes more of me to fight illness, but I have never felt it prior to that week.  I had the achy variety of the flu in February and "bounced back", but that has yet to happen with whatever I had two months ago.  It felt like someone had opened a metaphorical valve and let out all the energy made by my mitochondria.  It is an awful feeling.

Since this post is overdue, I'll cut to the chase.  Last Wednesday I had my second appointment with my new GI at Massachusetts General Hospital (MGH).  After some small talk, he read Nutrition's note from two days prior and asked point blank, "what do you think about a feeding tube?"  I was caught off guard, but wasn't surprised.  I have been thin all my life, but recently my appetite and everything with it has taken a nose dive.  My day-to-day status changes dramatically for no rhyme or reason.  Some days I wake up and wonder if I'll be able to stand up after placing my feet on the floor.  Once I stand I wonder how many times my shoulders or the rest of me will hit the wall before I make it the five feet to the bathroom each day.

My GI understands Mito so he understands the impact nutrition, or lack of it, has on those with the disease.  The plan is for me to get supplemental feedings while I sleep (or late at night before bed) so I can get more calories than I currently am during the day.  My g-tube will not be used as my sole source of food, but it will help me get more calories and feel better overall.  I currently weigh 100lbs which is not good for someone who is 5' 5".  Its not as simple as just eating more because even when I try to eat like "normal" people, I feel full sooner than I have in the past.

My mito sister Chelsea wrote more about feeding tubes in her blog in a post very appropriately titled No Longer Starving.   

I will have surgery on 9/12 to put in my g-tube.  My g-tube will go on the left side of my belly above my Baclofen pump.  It will go in laparoscopically, which means I will have general anesthesia and will have an incision above my belly button for a scope with a light and camera at the end so the surgeon can visualize my belly to help with tube placement.  Another incision will be made for the tube itself.

While surgery is painful and certainly not desirable, I hope this will be the beginning of something that will make me feel better overall, not just increase my weight. 

Logo for feedingtubeawareness.com

Beethoven's Ninth Symphony

The end of last month was a lot of fun.  Not only did I attend my third Child Life conference in a row, but was also able to cross something off my Bucket List; #8.  Some may view the fact I have such a list as morbid, but I look at it as motivation.  I do have Mitochondrial Disease, but no to worry, I'm not going anywhere soon.  I also could be hit by a bus on the way to the Allergist today so I want to make sure I do or at least aim for many of the things on this list.  While it currently has 38 items on it, there is no rule anywhere that says I cannot add to it as I see fit.  In fact, the last one just came to me a few seconds ago.

1. Touch an elephant
2. Sing Handel's Messiah in a chorus
3. Attend a taping of Saturday Night Live (New York City)
4. Go to the Kentucky Derby 
5. Give life (donate blood, bone marrow, have a baby)
6. Go to Ireland
7. Visit Beethoven's grave (Vienna)
8. Attend a live performance of Beethoven's Ninth Symphony, preferably in Symphony Hall (5/24/11 in Philadelphia with the Philadelphia Orchestra.)
9. Go to the hairdresser and give them free reign 
10. Go to a fancy occasion without my feet hurting
11. Get a job as a Child Life Specialist
12. Go to the World Series, preferably, in Boston ;).
13. Attend a performance of The Holiday Pops in Boston (12/20/10)
14. Go on a cruise
15. Serve as an extra in a movie
16. Read two books a month for a year
17. Complete a 5k Walk
18. Go horseback riding, again
19. Take ballroom dance lessons
20. Perform Moonlight Sonata, again
21. Swim in the world's largest swimming pool (Chile)
22. Visit a rain forest 
23. Go to Australia
24. Go rock climbing, again
25. Go skiing, again
26. Ride on the Orient Express (train)
27. Sleep in an overnight train
28. Ride The London Eye, again
29. Name a star
30. Visit The Four Corners (UT, CO, AZ & NM)
31. Take a shower, or at least wash my hair in the rain
32. Reach 20 followers on my blog
33. Be recognized for my blog
34. Distribute Halloween candy (yes, I have never done this)
35. Watch the pony swim from Assateague Island to Chincoteague Island
36. Visit Hollywood Walk of Fame
37. Attend a live performance of Mahler's 8th, Symphony of a Thousand
38. Be involved in a clinical trial

On Tuesday, May 24th, I had an appointment at CHOP and after that we met my dad at The Ritz where we would be staying that night. (The Ritz isn't our normal.  However, because my dad has so many travel points from work it was better to use those than traditional money.)  We rarely stay in hotels in cities that are only an hour and a half from home, but that night we had to since my dad was driving from Pittsburgh which is six hours west and I would be leaving for my conference the next morning, or so we thought (different story).  

After we got changed in the hotel for our night out, we ate dinner at an interesting restaurant that had Thai, American and Japanese cuisine.  There is a specific term, but I forget what that is.  We then walked to The Kimmel Center for the Performing Arts which houses The Verizon Center, home to The Philadelphia Orchestra.  

(Kimmel Center from Broad St., aka Avenue of the Arts)

(Outside Verizon Hall within The Kimmel Center)

The performance itself was two symphonies separated by an intermission.  The first symphony was Symphony of the Psalms by Igor Stravinsky.  This symphony was commissioned (written for) the Boston Symphony Orchestra in 1930 to celebrate their 50th anniversary.  Unlike most symphonies, this was composed in three movements.  I studied this composition in more detail as a Music minor at Simmons College.  During one of my Music classes I attended two BSO performances at Symphony Hall in Boston; same place I attended the Boston Pops in December.     

After a brief intermission, the true magic of the night began.  I don't remember when I first heard Beethoven, never mind fell in love with his work.  I can tell you that nearly everyone has heard the very basic elements of his most famous work; The Ode to Joy.  I have even heard it used with television commercials.  I cannot describe every note of this glorious, adrenaline pumping piece of music, you'll have to do that yourself ;).  I highly recommend this recording, performed by The Philadelphia Orchestra, led by the great Riccardo Muti who is not only my favorite ;), but transformed the orchestra as a whole.  Muti is my favorite because he was with the orchestra when I was young and therefore had a strong role in my love of symphonic music.  (Don't worry, you can listen to Beethoven's Ninth on iTunes with their small snapshots, but that's nothing compared to having the whole thing and turning up the speakers).  

I would describe Beethoven's Ninth to an extent, but that could easily turn into a major undertaking, not only because this is easily my favorite piece of music ever written, yes ever...but also because my perfectionistic self would take over and my attempt at a "brief" description could easily turn into something comparable to a dissertation, complete with references.    

    

  

The interior is shaped like a cello allowing for optimal acoustics and for all of you who have ever sung in a chorus/choir, see those red seats below the organ, yes, you guessed it.  Unlike most situations, in Philadelphia, the choir gets cushioned seats; not risers.  So singers get to sit, yes, sit when appropriate, not stand for what seems like eternity.      

 I do have my own pictures, but those are on my parent's camera.  I will add those when I get them.

Baclofen Trial Day 1

Tomorrow is the second and most important of the three day Baclofen trial.  I arrived at the rehab hospital around noon today and was taken to my room soon after.  My vitals were taken by the NA and my nurse came in to ask me a lot of questions to assess my needs, history of falls, present/past illness, etc.  My doctor came by to check-in and drew a pattern on my back to serve as a guide tomorrow morning.  I also met with PT who assessed my baseline so they would have something to compare to after I got the medicine into my cerebral spinal fluid.  I will have an IV placed after I take my night meds.  My dad is here and we are getting ready to watch the Home Run Derby, which means the All-Star Game is tomorrow night.  We are celebrating by eating Cracker Jacks.  Our back lab was named Cracker Jack, by we shortened it to Jack because I thought it would be a mouthful saying, "Cracker Jack, come!"

(He doesn't have a ball in his mouth, that's just how it tongue came out.)

The real action ;) starts bright and early tomorrow morning.  I was told I would be woken at 5am and I think my doctor said the procedure would begin at 7am.  I should be back here in my room by 9am.  PT told me I would be checked every hour to see how well, or not well the trial worked.  My doctor said the medicine should reach it's peak at around 1 or 2pm, but I will be checked hourly to see how I do at the beginning, middle and end.  I will receive 50mcg tomorrow and there is a chance I will not get any effect.  If that is the case, they can do 100mcg at a later date.  Baclofen is a muscle relaxant so there is a chance it will relax certain muscles that I need such as the ones in my bladder and colon.  If the intrathecal (cerebral spinal fluid) Baclofen interferes with these muscles I may decide to not go further, but only time will tell.

Interview, Spaulding and Volunteering

Yesterday morning I had an interview for the Patient-Family Advisory Committee at BIDMC (Beth Israel Deaconess Medical Center).  Essentially members give comments/suggestions in an effort to improve the hospital and patient care.  Being the all too seasoned patient that I am at BIDMC, I have many suggestions.  Having gluten-free food available in the ER for those with Celiac Disease so we don't have to endure a hunger headache or eat the regular food.  Extending the hours of Health Care Associates (HCA), the primary care office to include weekends and later weekday hours for those with colds, urinary tact infections, ear infections, belly pain, etc so they can be treated faster and not wait in the ER for hours on end while risking spreading their illness to others.  I also think the kitchens for inpatient food service should stay open longer, at least past 7pm.  When I was inpatient in November I had been sleeping for most of the afternoon and when I went to order dinner at 7:30, which seemed like a reasonable time, I was told the kitchen had already closed.  For dinner I had a sandwich on wheat bread.  It does not make sense to not be able to receive gluten-free food past 7pm at the same medical center where I was given the diagnosis of Celiac Disease.

Interviews are still going on, but I expect to hear something before the first meeting in September.


After about 10 minutes in my apartment I had to call a cab for my 2:00 appointment at Spaulding Rehab, also in Boston for a second opinion regarding the Baclofen Pump saga.  The taxi was late to arrive and I arrived at Spaulding at 2:17.  (I would have taken the T, but I didn't know exactly where the orange line T stop was in relation to the hospital so I decided to play it safe and take a cab.)  Thank goodness the doctor was running behind or else I might have to reschedule.  Normally I would not mind rescheduling, but since I have the Baclofen trail in PA next week, getting another opinion post-trial would be backwards.  I waited for about an hour before I was seen.  Thank goodness for my Kindle.  Long story short, I really liked the doctor and he agrees that a trial is a step in the right direction.  Hearing Dr. L describe the abnormal muscle tension in my left leg and foot using spasticity and dystonia, words that I have always used myself to describe it, but words my neuro at BIDMC always challenges and refuses to use made me realize how stressful the doctor-patient relationship is.  I see my neuro at BIDMC on 8/17 and if he has not changed his ways, he will loose me as a patient.  Dr. L gave me his email address and I will write to him during the trial in PA.

I need to have two doctors and two rehab hospitals managing my care because even though I spend most of my time here in MA, I still go to PA every now and then because my parents live there.  If the trial works and I like the results I get from it, I will likely get the pump implanted, but I would rather feel comfortable with the doctors who manage my care in both states before I have life changing surgery.  I asked Dr. L if they implant Baclofen Pumps at (MGH) Massachusetts General Hospital, but he said only (BMC) Boston Medical Center and Brigham and Women's Hospital implant pumps.  If the trial works and if I then choose to get the pump in MA, I would likely get it at Brigham since I have been there about three times for appointments.


I left Spaulding at around 4pm, called a cab and went straight to (CHB) Children's Hospital Boston.  (It only occured to me just now that I spent the entire day in a hospital.)  While these past few weeks have been crazy from the Child Life conference and monumental fall in AZ, to the wedding in PA, and the various appointments I had in Philly, I haven't been able to volunteer.  This coming week I am leaving for PA for the trial in Philly and a visit to Pittsburgh to tour Children's Hospital Pittsburgh and meet with the child life director.  Even though I volunteered 4-8pm (I typically work from 2-6pm), it was nice to be back in my element after being away from it for awhile.