Saturday, September 24, 2016

The ABCs of My Mito

This week has been Mitochondrial Disease Awareness Week. To close it out, Natalie and  I decided to share the ABCs of her "mito".  This list is not intended to include everything, but will give you an idea of her journey and experiences. She and I both know that, while she has daily challenges, there are many others whose "letters" include far more difficulties. We are inspired by all of the Mito Warriors and their families.  And now we present....


The ABCs of My Mito

Adapted School Schedule – I go to school from 9:30 to 12:30 every day, and sometimes stay for lunch. If we went back to a regular schedule, everything would snowball. Since I went to this schedule last year, I have had less severe episodes and symptoms. It means I don’t get to do electives right now, but it is what is best.   This A would now be "At Home Schooling". About 3 months after this blog was originally written, we had to make the decision to pull Natalie from traditional school due to the amount of issues she was having. We are by no means "issue free" but this decision has helped her tremendously. While she misses being at school, she feels it has been so much better for her body and we are able to keep things in balance for her most of the time. She has also gotten very connected with our Elk Grove homeschool community which has been a huge blessing.

Brain Fog – This is one of the biggest challenges I have right now.  It is so frustrating. I can feel like I go somewhere else for a minute and then come back. Sometimes it feels like everything is moving in slow motion. When it is bad, I also forget things from one second to the next, or have trouble keeping up with discussions or school stuff. It impacts me in volleyball especially on harder days.

Cocktail – Like many mito patients, I take something called the mito cocktail.  It is a bunch of pills and some liquids to help me with my symptoms. Mito cocktails are made up of vitamins and other supplements, and are especially figured out for each mito patient. My doctor makes adjustments to it as needed. It has made a huge difference for me with my symptoms.

My current daily mito cocktail includes 15 pills and 2 liquids in the morning and 8 pills and 1 liquid in the evening. That equals 8,395 pills per year plus the liquids each year for my mito cocktail alone. This does not include any of my other “as needed” medicines. Only one of the things in my mito cocktail is covered by insurance so we have to pay full price for the rest. One of my supplements is a special blend of creatine and other things that is especially designed for mito patients. We have to special order it each month.

Dysautonomia – Dysautonomia is a term that is used to described when your autonomic nervous system isn’t working right or malfunctions. Many of my problem are due to this. Your autonomic nervous system is the part of your nervous system that controls involuntary actions, such as the beating of your heart and the widening or narrowing of your blood vessels. It carries messages from your brain to all the different parts of your body. When I am sick, fatigued, or under extreme stress, my autonomic nervous system goes crazy and starts giving me all kinds of issues. I can also have problems sometimes for no apparent reason. For instance, I will get light headed, have heart palpitations or a very fast heart rate, get super flushed skin, shaky, shallow breathing, and/or numbness and tingling sensations. When I am getting sick, sometimes I will have these symptoms begin before I actually get the viral symptoms and last for longer than the actual virus.

Emergency Room Visits – I have been to the ER a lot of times, but we try to avoid it if we can because of all the germs. Usually I go for a smaller migraine treatment or to get IVs if I am sick. When I get the same viruses that my classmates get, I tend to get them worse and they also flare up my mito symptoms. Often times, I have to go and get IV fluids to help my body stay okay.

Fatigue – This is my biggest issue. It causes me the most difficulty in my days and if I do not get plenty of rest and make sure I don’t do too much. Fatigue will cause me to have much bigger problems that can lead to a “mito crash” or land me in the hospital.

Gastrointestinal Issues – I have had some different problems in this area. I have decreased motility which is worse when I am sick or have other problems. I also have acid reflux. Sometimes I also have swallowing issues. Last year my swallow was off for about 3 or 4 weeks and I had to have special tests done and have mostly liquids. Luckily, it got better and only gives me problems sometimes.  I have something called Cyclic Vomiting Syndrome which I will talk about when we get to the letter "V".

Heart rate irregularities – My heart is good, but I have heart rate issues often for no reason. I can be laying still or even asleep and my heart rate will become very rapid. Other times I have heart palpitations.

IVs – When I go the hospital, I get IVs for medicine and fluids and it helps me function better.  I have IVs too many times to count, but they really help me. When I have to get my migraine treatments, I have to get a special kind of IV called a PICC line because of the type of medicine.  This medicine can collapse my veins if it is in a normal IV line. That happened once. It was awful. The PICC line goes in my Bicep.

Joy despite my circumstances – I have had some really, really hard days and scary times, and there are a lot of things I wish I could do that I can’t. BUT I have a very good life and am blessed. Even on the hard days at home or when I am at the hospital, there is always something to be happy about. I have a great family, awesome dogs, and wonderful friends who accept me for who I am, and a great big God who is with me always.  Through everything, my mom and dad have always shown me that there is joy to found no matter what. We have had great times even during my hospital stays.

Ketotic Hypoglycemia – This was one of the first larger issues I had. I started having really low blood sugars in the morning when I would wake up.  I felt super shaky and my heart rate would be elevated to 150 beats per minute.  I even had some mild seizures. A doctor told me that it wasn’t diabetes, but it was pretty serious and I needed to eat a snack before bed so my blood sugar wouldn’t be so low. I also had to eat every few hours (and still do). It would be worse if I was sick or tired, too. My issue with my blood sugar caused me to be in the hospital many times. Now my blood sugar doesn’t usually drop, but I still have metabolic problems so we monitor the ketones another way.

Limited Exercise – Exercise is important when you have mito, but you have to be careful you do not do too much and cause your body problems. I have exercise intolerance issues which means my body really only can do so much without me having issues with my breathing or muscle fatigue.

Migraines – I have had migraines for several years now. My doctor told me that I get pretty much every type of migraine you can get, and of all his patients, I have the most kinds. I can have small migraines, migraines that last for days, and have even had one that lasted for two months. I also get what is called silent migraines where I just have aura but no pain. I get all kinds of aura – shapes, lines, zigzags, black, white, colors. I also get weird sensations with my migraines. Ocular migraines are scary for me because I don’t like it when I lose vision in my eye or lose my peripheral vision.  I was having a lot of “stroke-like” episodes for a while which are also very scary, but the L-Arginine I take has helped a lot with that.

Neurocognitive issues – In the second half of 6th grade, I started having a lot more trouble with my schoolwork and with my processing in general, which was even worse when I was fatigued. My mom and dad had me assessed and we found out that I had developed some issues with my working memory, fluid reasoning, attention, and processing speed. This is something that can happen with mitochondrial disease. The brain uses up to 20% of the body’s energy so when your body isn’t getting enough energy, the brain gets affected. My mom and dad worked with the school to help me. I am still very smart and get good grades. It just takes me a little longer some times and I need some accommodations and support. I also went to cognitive therapy for a while.

Occupational Therapy – I went to an occupational therapist for an evaluation and we found out that I need occupational therapy to help me for many different areas including motor skills coordination, bilateral coordination, visual tracking, and to help with my muscle tone and weakness issues, especially in my hands and core.  I worked with occupational therapists for about a year, and they taught me different strategies that work for me.
Ptosis and Eye Fatigue –  I have eye fatigue issues because of weakness in my eye muscles. My eyes get very tired and sometimes it can be difficult to read even though I have good vision. If you look at me on certain days, the top eyelid of my right eye droops because of weak eye muscles. It happens more when I am fatigued or my body is having problems.

Quick Trips to San Francisco – I am a patient at the Muscular Dystrophy Clinic in San Francisco. My neurologist is part of that and so is my pulmonologist. I also see a cardiologist in San Francisco once per year and have a urologist there for problems I sometimes have. This is also where I have my overnight sleep studies. My parents and I do day trips to San Francisco for clinic appointments where I see a few of my San Francisco doctors all at once. They are about 3-4 hours long. UCSF Benioff is where I have to go when my migraines get out of control. I usually have to stay there for a 5-day special treatment. It is a hard treatment with lots of side effects, but it really helps.

Real Understanding Needed – I don’t like to be thought of as a person with mito. I like to be thought of as me and treated like everyone else. But…I also need people to understand that mito is real, and sometimes things are rough for me. I cannot do what everyone else can do, even though I try my best or want to. I don’t ever want anyone feeling sorry for me. I just want them to understand. The best friends I have are those that “get me”, who treat me like everyone else but also watch out for me and understand that I am going to have difficulties at times. Sometimes it is hard for me to keep up with everything going on, but I always try my best.

Sleep Apnea – I have to wear a BiPaP each night to sleep because I have obstructive and central sleep apnea. If I don’t wear my BiPap even for one night, I will have a load of symptoms the next day and will not functional well at all.

Temperature Intolerance – My body can’t regulate hot and cold temperatures very well. Heat is a huge issue for me. It makes me feel really light headed and depletes me. It causes all of my symptoms to flare. I have a cooling scarf I wear. In the summer, I have to adjust my activities because of the heat or I have a lot of problems.  The cold causes me to get really stiff and once I am cold I have trouble getting warm. I also have to ease into swimming pools and cannot just jump in all the way at first. If I do it causes what my doctor calls a “dysautonomic storm” and sends my whole body into a panic. This continues to be a real issue that we have to work through and be careful of all of the time - especially the heat intolerance issue.

Ultra Sounds, EKGs, MRIs, EEGs, CT Scans – I have had a lot of these. The MRIs have been on my brain to check and make sure that the migraines, stroke-like episodes, and other problems I have had did not cause bigger problems. Last year we had to take my braces off to have one because I was having a lot of weird symptoms and problems, and the doctors wanted to make sure everything was still ok in there.


Vomiting and Nausea – When I was in 2nd grade, I started having cyclic episodes and horrible nausea all the time. It went away for a few years (from about 5th-7th grade) and would come sometimes with migraines, but this past year it came back for a while. I had problems with this every night for a week and just recently I have had three different really bad vomiting episodes in the middle of the night. I was not sick with a virus. It was one of my episodes because my body was having a hard time. Luckily, we   caught them early enough with medication, and I did not have to go to the hospital. I get nauseous with fatigue sometimes, too.  Since writing this, the cyclic vomiting gotten bette.  We have been lucky to catch many of them early as she knows the signs and have avoided having to go to the ER. The episodes are very distinct and similar to each other so we have gotten good at identifying them in the early stages and managing them. They are usually accompanied by extreme fatigue and other dysautonomic symptoms.

Weakness and Tingling – I get weakness and tingling in my arms and legs when I am more fatigued, sick, or in a migraine episode. Sometimes it is hard to walk. I also have weak muscles in my fingers, core, and legs. One area where muscle weakness has been a problem is at the base of my tongue. That is one reason why I have sleep apnea.

X-Rays – I have had abdominal, leg, and chest x-rays all for various reasons related to my symptoms.

Years to Diagnose – I have had issues since I was a baby but was not officially diagnosed until 3rd grade. Since many doctors don’t know enough about mito (and we didn’t know), they couldn’t figure out what was wrong. I went to all kinds of doctors before my mom found one who could help and told us about mitochondrial disease. I had to have a muscle biopsy where they took some of the muscle out of my leg and ran tests. I also had lots of bloodwork. We are still working on trying to find even more specific information about my mito so that we have a better understanding of what to expect in the future for me.


Zofran – Zofran is a God given gift from holy angels! It is something we always have and I take it for nausea and vomiting. It has kept me out of the hospital many times, and helps me a lot during migraines.


Saturday, February 6, 2016

An Open Letter to Chicago Med

 
February 6, 2016

Dear Chicago Med, 

I waited a bit to write this letter because honestly I needed time to wrap my mind around all that was (and was not) this past week’s Chicago Med episode. I have to be honest. I have never watched this show before, and only did so because I had heard that mitochondrial disease was going to be featured. Mitochondrial disease is an issue close to my heart and it was a big deal to all of us affected by it to have it on your show given the platform and audience.

Those of us from the “mito” world know that the need for greater education and awareness about mitochondrial disease is tremendous. We are used to taking our kids and loved ones to emergency rooms and having to take on the role of educator as we are met with blank stares at the mention of mitochondrial disease. We know what a difficult, long, and arduous process the road to diagnosis was for most individuals who have a mitochondrial disease. We also have shared experiences of doctors along the way who were stumped by the medical complexity that we brought with us and chose to dismiss or mislabel simply because that was easier than just admitting ignorance and/or seeking out other experts or resources.  We are aware that there are others out there who remain undiagnosed without proper treatments simply because not enough individuals in the medical community are armed with the knowledge about mitochondrial disease. We know that the journey with mitochondrial disease a difficult one – one that can lead to death, and we know what can come in the way of resources, funding, treatments, and potentially even a cure with more awareness and education.  

So you see, knowing that you at Chicago Med had actually taken the time to call one of the leading international experts in mitochondrial disease, and were planning to feature it in a storyline on your primetime show, I was so hopeful about the good that could come of it.
I want to be clear before I go on. I do not feel it is your show’s responsibility to raise awareness about mitochondrial disease. I do; however, feel that should characters on your show utter the words “mitochondrial disease’, it is imperative that your show represent it accurately. This should be the case for any medical condition. You are, after all, a medical show. You have a medical advisor. I would assume that you want to ensure that you bring integrity to your storylines and refrain from haphazard, reckless, and/or inaccurate portrayals of illnesses and hospital protocols.  Unfortunately, what I saw in this week’s episode was exactly the opposite of that. The list of inaccuracies and issues in your episode is extremely lengthy so I will refrain from listing them all. That said, there are some aspects of this week’s show that I must address on behalf of my family and all of those affected by a mitochondrial disease. 

First, your storyline led viewers to the belief that mitochondrial disease is a fictional condition. I know this because most viewers have probably never even heard of mitochondrial disease. I know I never had until my daughter was diagnosed after a long journey of ruling other conditions out and having countless tests to figure out what was wrong. You had one doctor who said she “knows mito”, but allowed for no real mention of what mitochondrial disease. In fact, when the dad started to say “Mitochondrial disease is…”, that is when your writers had him cut off as the doctor began talking. How hard would it have been for him to say what it actually was, or for her to elaborate on it at some point in the episode? You had no problem incorporating the following exchange into your show later when the two doctors were talking:

Dr. Manning: “She has a mitochondrial disease…”
Dr. Halstead: “Mito? We really are talking fiction here.”
Dr. Manning: “You don’t think it exists?”
Dr. Halstead: “Always seemed like a wastebasket diagnosis to me. Doctor can’t figure out what’s wrong, says it’s mito and calls it a day.”

And…you just left it there. No explanation from Dr. Manning. With this dialogue exchange, you basically told viewers that mitochondrial disease is a made up condition, invalidating and demeaning the lives of those who suffer daily with the challenges mitochondrial disease brings. You also insulted those doctors who dedicate their lives to the mitochondrial disease patients and all of the medical complexities and unknowns that come with them. You spit in the face of all those who fight tirelessly on behalf of their family members who suffer, and advocate for more research and funding. “Wastebasket diagnosis” will now and forever be burned into my memory as it is such an offensive term and extremely off base and inaccurate when describing mitochondrial disease. It negates all of the struggles we went through as a family to obtain a diagnosis, and insults the medical professionals that were instrumental along the way. Worst of all, this term is disrespectful to my daughter who struggles daily and has a confirmed diagnosis.

Where is the balance, Chicago Med? I know Munchausen’s by Proxy and Medical Child Abuse exist. I am not na├»ve. But so does mitochondrial disease – about 1 in 4000 have it. Your portrayal made Munchausen’s by Proxy and Medical Child Abuse look like one in the same.  They are not. We in the mitochondrial disease community have a hard enough time without your show linking us with abuse. 

The following dialogue exchange took place in this episode when Dr. Halstead was trying to figure out what did not seem right about the situation and approached Dr. Charles. 

Dr. Halstead: “I wish there was a simple answer to that.”
Dr. Charles: “What about the not so simple one?”

The irony of this statement is that neither a mitochondrial disease diagnosis nor a Medical Child Abuse allegation is “simple” as you made it seem. Both are extremely complex and varied, and require thorough investigation and evaluation, far more than what was shown in your episode.
If you want to tell a story about Medical Child Abuse, you could have done it without tying it to mitochondrial disease, or at least ensured that your represented the disease accurately and well on your program. So many of us parents of children with mitochondrial disease have had to take on the role as educator and advocate, and literally fight to make sure our children’s needs get met because of the lack of knowledge and awareness. Many have to travel to see qualified physicians.

You also led viewers to believe that this dad had acted all on his own, and was obsessive and pushy about the daughter’s condition. Dr. Halstead made it seem crazy that Michelle’s dad would have her medical records with him, and that his response to not having had a muscle biopsy was a sign of guilt.  Yet the reality is anesthesia can be problematic for many with mitochondrial diseases, and muscle biopsies are costly. They also are no longer the sole means of diagnosing mitochondrial disease. Genetic testing has been expanded and is the standard.

You acted like the dad had driven everything, yet here lays this girl with a central line and gastrostomy tube in her body. These medical measures can only be undertaken after specific tests and diagnoses are made by actual physicians. They are not the work of a father. There was no mention at all in the episode of these doctors seeking out prior physicians to obtain more information on the patient and her ailments. The dad, instead, had just diagnosed her via Google. Do you know how ridiculous that is? Sure, every parent searching for what is wrong with their child who is struggling, is likely to do online research, but his “google diagnosis” alone cannot be the basis for all of her medications (such as the anti-seizure medicine) and her g-tube/central line implants. Parents can yell as loud all they want, but a good doctor is going to make sure all diagnostic processes and treatment protocols are in place for these measures.

When the dad says that he shares that the “good news” was that they had a diagnosis, but the “bad news” was there is no cure, I am quite sure all those affected by mitochondrial disease watching nodded in agreement. It is truth. No one wants something to be wrong with themselves or their family member, but when there is, they definitely are thankful to finally have answers. Unlike many other diseases, there is not a cure for mitochondrial disease so those affected do the best they can with what they have available to them. The truth is the “bad news” extends far beyond their being no cure. The “bad news” is that there is not enough knowledge and awareness out there. The “bad news” is that each individual comes with their out set of medical complexities and treatment only does so much. The “bad news” is for many life is a daily struggle, and for others their life comes to an end due to mitochondrial disease. 

And, the “bad news” is your show had 7.5 million viewers watched last Tuesday, making things even more challenging for those in the mitochondrial disease community. You marginalized and negated mitochondrial disease in the eyes of others, and made those who suffer from it feel even more at risk and insecure about their interactions with the medical community. 

Whether you realize it or not, whether you like it or not, whether you care or not, you have a platform with your show. You have a responsibility. Last Tuesday night, your responsibility WAS NOT to raise awareness about mitochondrial disease, but it IS now. Steps need to be taken to correct your inaccurate portrayal of mitochondrial disease. Many, including myself, would love for you to extend the storyline and have it proven that “Michelle” does in fact have mitochondrial disease and her father is not guilty of medical child abuse.  In that storyline, we would like to see actual information shared about what mitochondrial disease is, and any inaccuracies that were included in this past week’s episode corrected.  I realize this is probably not going to happen. At a minimum, we would like educational statements about the reality of mitochondrial disease included at the beginning or end of an upcoming show, and always attached to any further airings of the “Reunion” episode”.  We would also like statements to be included on your website and posted to Twitter and Facebook.

You can make this right. You need to make this right. I do not know what the future holds for my daughter, but I do know I could not let this go. On behalf of all those affected by mitochondrial disease, I implore you to look into how you can turn this into something good and beneficial to our mito community. Use your powers for good, Chicago Med. In making this right, you can also be helping countless others who have yet to be diagnosed and are suffering daily.

I would welcome the opportunity to engage in a discussion with those involved with your show, either by phone, face-to-face or email. If not me, please meet with others from our mitochondrial disease community to discuss how we can partner to best resolve this matter. I can be reached via email at ndion18@comcast.net.

I look forward to seeing your response to this situation. In the interim, please refer to and share the following links to learn more about mitochondrial disease: 


Sincerely,

Nicole Dion

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