Rare Disease Day 2012

Today is Rare Disease Day.  You many recall this post from the Rare Disease Blog Hop on January 30th.  That was exactly 30 days ago which is significant because 30% of children with RARE disease will die by their 5th birthday.  

An estimated 350 million people worldwide are affected by rare disease.   There are more than 7.000 rare diseases, some affecting less than 100 people.  75% of rare disease affect children.  About 80% of rare disease are genetic.  These rare conditions are chronic, life threatening and FATAL.   

that's more than 30 million people, more that those living with cancer worldwide 

There are NO cures for any rare disease, and only 5% have any treatment.
Over 50% of rare diseases have no foundations, advocacy group or community support.

My rare disease is Mitochondrial Complex I Deficiency and it is one of the many Mitochondrial Diseases.  I have had it since conception (genetic), but wasn't diagnosed until I was 15 after my second metabolic stroke when I was 14.  I had my first metabolic stroke when I was 18 months old.  I wrote a blog post to reflect on that day: 10th Anniversary.  It was after my most recent stroke and my lack of a "normal" recovery course that my doctors considered Mitochondrial Disease.    

The symptoms of Mito are as wide in variety as they are in severity.  You could have two people in the same room with completely different issues and on opposite ends of the spectrum in terms of severity, but they both have the same condition.  

Symptoms of Mitochondrial Disease

Also, the symptoms of this disease are things that alone are pretty common among the general population such as diabetes, cataracts, deafness, GI issues, poor balance, cramps, muscle weakness, etc.  I have about 8 of the symptoms on this chart.  

Symptoms not listed on this chart include, neuro-psychiatric disturbances, migraines, Autistic features, mental retardation (not my term), atypical Cerebral Palsy, absent reflexes, fainting, Dysautonomia (temperature and BP dysregulation, among other things), hypoglycemia, fatigue, failure to gain weight, short stature, respiratory issues, optic atrophy and a few others (UMDF).  I have 9 of these.  


Like all of the other rare diseases, Mitochondrial Disease as a whole does not have a cure or even a proven treatment.  The meds that I take treat the symptoms, but have not been proven to improve mitochondrial function.  1 is 2,000 babies will develop Mitochondrial Disease in their lifetime; half will develop it before their 5th birthday.  These diseases are nearly as common as all childhood cancers combined (Wish Upon a Cure).  Every 30 minutes a child is born that will develop a form of Mito by age 10.  At least 1 in 200 in the general population have a mtDNA mutation that may lead to disease.  The first adult was diagnosed with Mitochondrial Disease in 1960s, the first child was diagnosed in 1980s (UMDF).   

Most with Mitochondrial Disease are prescribed a cocktail (no, not the kind you would get at a bar).  The Mito Cocktail is a variety of vitamins and minerals prescribed with the idea that they will improve the function of the mitochondria.  Just as two people with Mitochondrial Disease can have different symptoms and severity, same goes for the cocktail.  The cocktail is custom made to everyone with Mitochondrial Disease because each has their own needs and may have deficiencies in certain levels such as CoQ10 or Creatine.  Some of the ingredients that might be in a cocktail include, CoQ10, B vitamins, C, E, Selenium, Biotin and others.  With all the meds and vitamins, those with Mito might look like this picture -->    

While the vitamins can be bought over the counter, many choose to have all the ingredients combined into one or two pills or liquids which pails in comparison to the 15 pills per day it could be otherwise.  However, because the effectiveness of the cocktail and the ingredients have yet to be proven in research studies, health insurance companies may not cover the cost.  (I have been fighting with my health insurance company for months.)  This is where you, my readers come in.  Yes, you!

Health insurance companies are denying life-saving medicine to patients who suffer from Rare Diseases.  There are medicines and supplements already approved by the FDA (for treatment of other more common illnesses) that are prescribed for Rare Disease patients.  Since the FDA hasn't approved these medicines for use with a Rare Disease, it is considered "off-label" use and insurance companies are using this as means to deny patients the medicines they need.  Please help those with Rare Disease get the treatments we need by signing this petition.  

Day to day life with a Rare Disease is random.  One day five things may be bothering you, the next day it could be five different things, the following day it could be three things from yesterday and two from last week.  These changes are daily and happen without rhyme or reason.  Unless directly asked by someone who shares similar shoes, I don't usually share all my symptoms or "annoyances".  

While healthy and "normal" people may have one doctor that they see annually or when they are sick, I have one for most every body system.  I not only have specialists, but also sub-specialists.  I have Neurology and Ophthalmology, but also Neuro-Ophthalmology.  Some doctors I see as needed, others are every six months and there are a few that I see about every three months.  If having so many doctors isn't crazy enough, when I have an issue, it's not always clear cut who I should call.  One example is when I feel tired after eating chocolate do I call Neuro, Genetics/Metabolism or GI?  Also, I have a PCP but what I tell her at least three other doctors are going to have to know about which sometimes forces the question, why do I need a PCP when I have everyone else?    

Then there is always the awkward situation of meeting a new doctor who hasn't read your chart before walking in and asks, "Mito what?" or "How do you spell that?"  Often times this can be fun because rarely does the patient tell the doctor about their disease, it's usually the other way around.  The ER and when I am sick are situations where I don't really feel up to explaining what I did above.  Furthermore, when I am sick with a belly bug or respiratory illness, my body doesn't "bounce back" as quickly as those who don't have Mito.  I had the achy flu last March and it took me about three months to get back to baseline.  Belly bugs need to be treated promptly since I cant afford to loose electrolytes from vomiting, etc.  Never mind, the lack of eating that occurs with belly bugs.  

There have been times where I have gone to the ER not feeling well at all and I tell the resident and attending physicians what I need (labs, which MDs to call, etc) only to have them not listen.  The worst is when you have to advocate so strongly for yourself that you actually look better in their opinion.  In their opinion truly sick people don't have the energy to "kick people into gear".  When this happens, they may not feel the need to call the specialist you told them to upon arrival.    

Like at least some of the other rare diseases, in some cases, Mitochondrial Disease is often invisible, you can't "see" it on the outside.  I participated in Rare Disease Day not only to raise awareness of rare disease, or Mitochondrial Disease, but invisible illnesses as a whole.  Given the statistics above, there are probably more people than you are aware of who have their own "medical life" of meds, appointments and tests.  Just because someone may look healthy and fine on the outside, doesn't mean there isn't a war going on inside their bodies.

Yes, I do have a disease without cure or treatment, but I know for a fact that if I did not have Mitochondrial Disease, I would not have my mito sisters Chelsea, Sarah and Stefani.  Sometimes, it's easy to only look at the negative or what you can no longer do because of an illness or injury.  We have all heard the phrase, "everything happens for a reason", but have you ever truly thought about it?  Sometimes it is hard to see the positive coming out of a negative and it may take time to see it, but its there.  

Chelsea, myself, Sarah and Stefani.

Yes we have had our ups and downs as a group as well as individuals, but this road into the unknown is much easier when you have people to guide you along the way.  This post will tell you more about the path we have walked together.

When I posted on Facebook that I was writing my post for Rae Disease Day, one of my friends messaged me and said, "MITO ISN'T RARE!!!  1 in 2,000 isn't rare, is it???"  Unfortunately to us, those who have it or have children with it, Mitochondrial Disease is not rare, yet most lay people have never heard of it.  Again, these diseases are nearly as common as all childhood cancers combined (Wish Upon a Cure).  Every 30 minutes a child is born that will develop a form of Mito by age 10.  Everyone has heard about cancer.  Yet because Mitochondrial Disease is basically an umbrella to cover all types and forms of the disease, more research needs to be done into how the different forms of Mito work because until that is understood, treatments and cures are the next step.  Nothing can be fixed unless you know how it's broken.  

MitoAction (community outreach and support) along with the United Mitochondrial Disease Foundation (research) are working hard to promote awareness and research so that one day every physician with at least know what Mitochondrial Disease is and there will be proven treatments so nobody has to fight with their insurance company over the cocktail.   

I like comments so please let me know what you thought.  Did you enjoy this post?  Was it too long?  Anything you want to know more about?  Any thing else?

Rare Disease Blog Hop 2012

Rare Disease Day is on February 29th, 30 days from today.  The number 30 is also significant because 30% of children with RARE disease will die by their 5th birthday.  

An estimated 350 million people worldwide are affected by rare disease.  1 is 10 Americans is affected by rare disease, that's more than 30 million people, more that those living with cancer worldwide which is estimated to be at 28 million according to the Livestrong Foundation.  

There are more than 7.000 rare diseases, some affecting less than 100 people.  75% of rare disease affect children.  About 80% of rare disease are genetic.  These rare conditions are chronic, life threatening and FATAL.  

There are NO cures for any rare disease, and only 5% have any treatment.
Over 50% of rare diseases have no foundations, advocacy group or community support.  
My rare disease is Mitochondrial Complex I Deficiency and it is one of the many Mitochondrial Diseases.  I have had it since conception (genetic), but wasn't diagnosed until I was 15 after my second metabolic stroke when I was 14.  I had my first metabolic stroke when I was 18 months old.  I wrote a blog post to reflect on that day: 10th Anniversary.  

Metabolic strokes can damage just as any other type of stroke except they cannot been seen on CT or MRI.  I had most of the features of a typical stroke, drooling, facial asymmetry, etc, but all my brain scans came back normal.  In my case my strokes were caused by some sort of stress.  The first was two weeks after a pseudomonas infection requiring IV antibiotics.  My second occurred hours after a 5-minute water tred test.  Strokes of any kind are rare in children, so after my first the doctors assumed it was a fluke event since lightening never strikes the same place twice.  It was after my most recent stroke and my lack of a "normal" recovery course that my doctors considered Mitochondrial Disease.    

The symptoms of Mito are as wide in variety as they are in severity.  You could have two people in the same room with completely different issues and on opposite ends of the spectrum in terms of severity, but they both have the same condition.  

Symptoms of Mitochondrial Disease

Also, the symptoms of this disease are things that alone are pretty common among the general population such as diabetes, cataracts, deafness, GI issues, poor balance, cramps, muscle weakness, etc.  I have about 8 of the symptoms on this chart.  

Symptoms not listed on this chart include, neuro-psychiatric disturbances, migraines, Autistic features, mental retardation (not my term), atypical Cerebral Palsy, absent reflexes, fainting, Dysautonomia (temperature and BP dysregulation, among other things), hypoglycemia, fatigue, failure to gain weight, short stature, respiratory issues, optic atrophy and a few others (UMDF).  I have 8 of these.  
Thankfully many of my symptoms are controlled with meds.   

Mitochondria are present in every cell in the human body except red blood cells and produce 90% of the energy needed for the body to function.   When they fail, less energy is generated and as a result, cell damage and even death occur, this is why the symptoms of Mito are so diverse.  As this process repeats itself throughout the body, entire organ systems begin to fail.  The symptoms experienced reflect the cells and organ systems that have be affected by the disease.  Mitochondrial Disease primary affects children, although adult onset is becoming more and more common.  Generally, 4 major symptoms have to be present before Mito is even placed on the table. 

Electron Transport Chain

Diagnosis is not an easy process.  Not only that, but there are about 25 types of Mitochondrial Disease.  Complex I, the form of mito that I have is part of the electron transport chain.  There are four others that occur within the respiratory chain, Complex II, III, IV and V.  Some have more than one of the complexes and others have three, but you cannot have all five.  

Complex I Deficiency is "short" for NADH dehydrogenase deficiency and is one of the most common of mitochondrial abnormalities, representing as much as one third of the electron transport chain deficiencies.  Click here to watch a video about the electron transport chain in action.   Often presenting at birth or early childhood, Complex I is typically a  progressive neuro-degenerative disorder and is responsible for a variety of symptoms, particularly in organs that require high energy levels such as the brain, heart, liver and muscles.    

I was diagnosed through a combination of blood work, imaging, and finally a muscle biopsy, actually three muscle biopsies.  Most people only have one muscle biopsy, but I had three.  My first was taken from my upper left arm when I was a baby, not sure if it was before or after my stroke.  The second was the first surgical biopsy from my left thigh.  The third and final came from my left forearm.  The surgical biopsy was performed in Atlanta, GA as a fresh sample.  When I was diagnosed ten years ago, there was a lot of debate between fresh or frozen samples.  That's why I had to go to Atlanta for my biopsy, so that I could be close to the research facility where the sample would be looked at and a diagnosis made.  

Like all of the other rare diseases, Mitochondrial Disease as a whole does not have a cure or even a proven treatment.  The meds that I take treat the symptoms, but have not been proven to improve mitochondrial function.  1 is 2,000 babies will develop Mitochondrial Disease in their lifetime; half will develop it before their 5th birthday.  These diseases are nearly as common as all childhood cancers combined (Wish Upon a Cure).  Every 30 minutes a child is born that will develop a form of Mito by age 10.  At least 1 in 200 in the general population have a mtDNA mutation that may lead to disease.  The first adult was diagnosed with Mitochondrial Disease in 1960s, the first child was diagnosed in 1980s (UMDF).    

Most with Mitochondrial Disease are prescribed a cocktail (no, not the kind you would get at a bar).  The Mito Cocktail is a variety of vitamins and minerals prescribed with the idea that they will improve the function of the mitochondria.  Just as two people with Mitochondrial Disease can have different symptoms and severity, same goes for the cocktail.  The cocktail is custom made to everyone with Mitochondrial Disease because each has their own needs and may have deficiencies in certain levels such as CoQ10 or Creatine.  Some of the ingredients that might be in a cocktail include, CoQ10, B vitamins, C, E, Selenium, Biotin and others.  With all the meds and vitamins, those with Mito might look like this picture -->   

While the vitamins can be bought over the counter, many choose to have all the ingredients combined into one or two pills or liquids which pails in comparison to the 15 pills per day it could be otherwise.  However, because the effectiveness of the cocktail and the ingredients have yet to be proven in research studies, health insurance companies may not cover the cost.  (I have first hand experience.)  This is where you, my readers come in.  Yes, you!

In the world of Mitochondrial Disease, there are two national foundations.  The United Mitochondrial Disease Foundation's focus is on research into treatments and the disease itself.  MitoAction's goal is awareness and community support.  

Like at least some of the other rare diseases, in cases, Mitochondrial Disease is often invisible, you can't see it on the outside.  I participated in this blog hop to not only raise awareness of rare disease, or Mitochondrial Disease, but invisible illness.  Given the statistics above, there are probably more people than you are aware of who have their own "medical life" of meds, appointments and tests.  

T'was the Day After My 25th Birthday

My birthday was on December 3rd, so it has been more than a few days since, but for the purposes of this post, that's insignificant.  I need to be more productive this year.  I feel like a greater part of the past two years since graduating from college have been a bit of a waste.  I need to get out of my parent's house so I can exercise my free will and express opinions without being trampled on.  Today, my dad totally convinced me to go out with him and to do errands which involved listening to guy who makes marmalade out of tomatoes, yup....:/.  Right now, my life is seriously lame.  I have great friends who are basically family, so that is not the problem.  The problem lies in that two night ago at my parent's Christmas party, I responded with "I'm a hostage" to the question, "What are you doing these days?"

The past year included two surgeries, Baclofen pump revision and G-tube.  I also had to move virtually all of my medical care from one hospital to another and despite all of the headaches, the move has been well worth it.  There are many doctors out there, some are good, but only a few are great!  Some only help maintain your baseline, but others actually try to improve it.  Some just say, "I don't know" to every question, others try to challenge that and look for a cause.

Perhaps my most important lesson this year was that everyday is a gift.  Sure, we've all heard this one in some way, but have you ever really thought about it.  This July, a little friend of mine Eithene, passed away from Mitochondrial Disease.

Me and Eithene

Loosing someone you care deeply about is very difficult hard, but when that person is lost to the same disease you have, it is very hard to not take pause and live life differently from that moment on.  I will never forget the weekend she passed.  I have mourned before, but never so deeply.  Mitochondrial Disease has no compassion, so while I knew of others who lost their lives, Eithene was the first I had ever known personally.  This is when it began to hit me.  Eithene and I both have mito, but we are on very different paths.

My Mito Sisters: Chelsea, myself, Sarah and Stefani.

This year has been difficult for my mito sisters.  One of us had a 108 fever in October, another has faced one issue after the other, and yet a different sister had a PICC placed.  Standing by my sisters during difficult times has me wondering, why am I here?  What do I have to offer?  Clearly, there must be a reason why with all of the "could bes", I'm still here and doing well.

Oh, and for all who are wondering about my Bucket List, it's still there.

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
39. Try a carmel apple
40. Put a star atop a Christmas tree

For those paying attention, #39 and #40 are new.  Better yet, I did them last week in Boston!!  Even better, each was done with a sister as a witness!!  

Stefani's Tree

I ate a carmel apple with Sarah at MIT, but alas I don't have a picture.  I think this means I need to do it again so I can obtain proof.  

       

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.

10th Anniversary

This Father’s Day 10 years ago I had my second stroke.  Yes, second.  The first was when I was eighteen months old and as a result, don’t remember it.

My symptoms actually began the night before when my family and I were watching Office Space.  My vision was quite blurry, but not overly so that I couldn’t see anything.  I wasn’t quite sure what was wrong so I tested myself a bit and walked to the kitchen for something to drink.  I could walk and use my major muscles so I wasn’t overly worried.

The movie continued and ended without incident.  (Apart from being happy the movie was over because I hated it.)

I didn’t sleep well at all that night.  My belly was not pleased for some reason and I think I was just awake because I wasn’t sure what was happening.  At no point did I wake up my parents.

Sunday morning came and my dad came in to tell me they were leaving for their run, but would return at around 11.

I was sort of sleeping.  We’ve all been there, looking and acting asleep hoping that by fooling others, you’re fooling yourself.   I decided it was time to get up and figure out if I was better, worse, or the same since the night before.  I recall being awake, but feeling only half with it.  As though time was on slow motion.  I thought perhaps a cool shower would work.  I turned on the water and got it, making sure to get my hair wet.  That did nothing.  I hastily dried myself off, put my PJs back on and laid across my parents bed.  At this point, I still had no idea what was happening, but felt doing anything that was not absolutely necessary would not do me well in my current state.  This is why I didn’t towel dry my hair, get dressed or eat breakfast.

My parents returned home and the first to find me was my dad.  Upon entering his bedroom, the first thing he saw were my feet and as usual, he tickled them.  No response.  I didn’t squirm, try to kick him, giggle or anything.  I wanted to, but felt so detached.  Shit, I thought, this can’t be good.  My dad walked around to where my head was.  He had just returned from a run and normally I would have scrunched my nose, but that didn’t fly either.  Dad tried to interact with me but soon found I couldn’t talk, my face was asymmetrical and here’s the best part…I was also drooling because I couldn’t swallow.  Eeeeew!!  Gross!!  Only babies drool…I’m 14, this is not cool!  Mom was in the shower.  Dad went in and told her something was very wrong, but mom, of all things, said, “but I want to go to Starbucks and walk around town.”  Hello!!!  I can still hear, I thought you were a nurse, yeah like a “medical professional”.

After practically yelling at my mom (go dad) we were getting ready to go to the hospital; namely The Children’s Hospital of Philadelphia.  For whatever reason, my mom made me get dressed to go to the hospital.  Nowadays, I go in my PJs because 1) they are more comfortable and 2) I like to avoid the HUGE hospital gowns whenever possible.  To this day, I remember exactly what I wore that Sunday in June.  During the hour and a half car ride to Philly, my dad got on the phone and eventually was able to talk with one of the Neurology fellows.  What is Neurology?  While I had no idea what the word meant, something told me it wasn’t exactly something you wanted to be familiar with.  The fellow asked my mom to direct me to follow her finger with my eyes.  I couldn’t.  I really, really wanted to, but I could.  Shit, I thought again.  Now I am really screwed.  I was semi-familiar with this “follow my finger” test since my pediatrician seemed rather fond of it, not sure why.  Previously, I would just do as she asked without thought as to why I had to do such a menial task.  However, now that I couldn’t do it, I grew more frustrated and the task I had previously done flawlessly, now seemed to have merit.

First my parents thought we should go to the Hospital of the University of Pennsylvania’s ER, since I was a teenager, but the security guard told them no I should go to Children’s (right next door) since I was not yet 21.  Nothing had changed when we arrived at CHOP.  I was the same and could still walk.  I looked around at the others waiting to be seen and to my shock seemed to blend in.  From here on I remember everything; from what the room where my vitals were first taken, to the color and location of the room I was in while in the ER.  I had a CT shortly after getting to the ER to make sure I wasn’t bleeding, had a clot or tumor in my brain.  The Radiology tech who was in the room was a woman with blond hair.  I remember crying a bit in the machine and she was talking to me, assuring me everything would be OK.  I repeated those in my head over and over.  I had my IV in the back of my left hand near my pinkie; it was blue.  Since “real food” was out of the question since I couldn’t swallow, my dad got me a chocolate milkshake from the McDonald’s in the hospital thinking perhaps the milkshake would melt in my mouth and then slowly go to my stomach.  Not so fast since the act of sucking on the straw was not successful.  Mom then tried to spoon feed it, but that too didn’t work so well.  Even though I couldn’t ingest the milkshake, I refused to let them have it or toss it because it was still mine.

After the ER, I was admitted to the PICU (Pediatric Intensive Care Unit).  I spent two days there and three days on what was The Adolescent Unit, this unit doesn’t exist anymore  .  During my admission, I got my braces off (YES!!!) for an MRI since the mouth lines up with the base of the brain and can cause artifact on the scan.  One of the labs I remember being drawn was for Lyme.  I was seen by Cardiology and I remember this quite well since I was sort of confused as to why would my heart render me unable to swallow, speak or smile.  The first meal I had was Fruit Loops with grape juice on the side.  Even though I received Speech Therapy, most of what I did say was unintelligible so I didn’t talk much due to frustration.

One day, however, one of the doctors asked me to follow their finger with my eyes, but the only problem was I couldn’t see it since I didn’t have my glasses on.  The doctor had woken me up and last I remember, my dad had taken them and placed them in his breast pocket.  I then asked, clear as a bell, “Where are my glasses?”  Needless to say, my mother was so shocked she missed out on what I said.  Thank god someone else was in the room because I didn’t want to try again for fear I couldn’t.  So once mom put my glasses on I gave it my best shot to pass that pesky “follow my finger” test.  My mom was wearing a black turtleneck that day.

The doctors and CHOP were very puzzled by my symptoms and medical history.  Strokes stereotypically happen to old people, yes there are always exceptions, but for a 14 year-old to have two for no rhyme or reason simply did not make sense.  Neither was the fact that nothing ever came up on my CTs or MRIs.  Most strokes are caused by clots or lack of oxygen, unless they are metabolic in nature.  That year, I did not improve as much as would be expected in someone my age who has had a stroke.  The young are more resilient and can recover from brain injury such as a stroke more quickly because their brains are not yet fully developed.  The next year, 2002, I was diagnosed with Complex I Mitochondrial Disease by fresh muscle biopsy in Atlanta.