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Mitochondrial Disease Explained for Non-Scientists

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September is Mitochondrial Disease Awareness Month, and knowledge is power.

Our daughter has mitochondrial complex I deficiency caused by mutations in her NUBPL gene. There are dozens of types of mitochondrial complex I deficiencies, but her particular type is rare. Because there are so many types of mitochondrial complex I disorders and each is different, we sometimes refer to our daughter’s type as “NUBPL,” the name of the gene affected.

When people think of “mitochondria,” many think of DNA from just the mother. This is true only with respect to some of the DNA making up the mitochondria. In fact, they are put together mostly from gene pairs with one gene from each parent (nuclear DNA), plus just a handful involving one gene coming from the mom (mitochondrial DNA). All of our cells (except red blood cells) contain mitochondria. The mitochondria produce the energy our cells need to function, to replicate, and to repair themselves. They are the “powerhouses” of the cell.

This “power” is produced through a series of chemical reactions taking place in five different physical structures. These are called complexes I through V (or 1 through 5). They work together like an assembly line. If a problem exists in one “complex,” it can harm production down the line in another, ultimately resulting in too little “energy” being produced. Like an actual power plant, the process of producing usable energy also produces chemical byproducts that can be toxic.

Our bodies clean these byproducts through, among other things, “anti-oxidants.” However, sometimes a person with a mitochondrial disease produces too many toxic byproducts for the anti-oxidants to work, leading to a build-up of toxins. This process is called “oxidative stress.”

Thus, a good analogy is a power plant with five buildings, each producing products that are sent down the line, ultimately producing energy from the final building, Complex V, while also producing polluted water that is filtered and cleaned by another facility before being released into a stream. A person with a mitochondrial disease has a problem in at least one building of the five. As a result, she may not produce enough product to be passed along and ultimately turned into energy to meet the needs of the cell (not enough energy is coming out of Complex V) or may be spitting out too much pollutant to be filtered and the water in the stream is getting polluted.

Either of these can result in premature cell death or impaired function.

The nature of these diseases is that they often cause damage over time — again, like pollution from a factory. Similarly, illness can increase energy needs of the body, and cells can become damaged because of their inability to meet the needs in times of higher demand. Both of these things occurs in all of us as we age (mitochondrial dysfunction is a significant contributor to the symptoms of old age, including wrinkles, loss of muscle, loss of brain function, clumsiness, and heart disease).

Patients with a primary mitochondrial disease just experience this fate differently, earlier, and in different parts of their bodies. Note, however, that this is not the “premature aging” disease. Regardless, by their very nature, these diseases often progress.

Different cell types have different energy needs. Skin cells, for example, need little energy, so contain few mitochondria. Heart, kidney, liver, and brain cells, on the other hand, have high energy needs, so contain the most mitochondria. Liver cells, for example, may contain as many as 2,000 mitochondria per cell. As a result, these parts of the body are susceptible to “mitochondrial diseases,” either because the energy needs are not being met, or in meeting them too much “pollution” is being produced.

Some of these diseases affect only one of these parts of the body, while others may affect multiple systems.

Our daughter’s disorder is a problem in “Complex I,” thus the name “mitochondrial complex I deficiency.” This is the largest of the five complexes, the one involving the most genes for its assembly and function. It is the most common place for these diseases to arise. However, knowing she has a disorder in Complex I tells you very little. Returning to the power plant analogy, for example, it is like telling you there is some sort of problem in “building one” of a five-building complex, but not knowing what that problem is; it could be something small, like a clogged toilet, or it could be something large, like the complete collapse of the building.

The devil is in the details.

Some Complex I deficiencies are quickly fatal; others are far more benign. Indeed, it is likely that many are so benign that a person can live a long healthy life without knowing they have a disorder. Still others may experience problems only late in life, such as developing Parkinson’s or heart disease. Thus, mitochondrial complex I disorders can range from quickly fatal to unnoticed and insignificant.

Image via Thinkstock.

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When Nothing Can Prepare You to Say Goodbye to Your Child

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Saira kissing her son, Amaan.
Saira and Amaan.

Strength and perseverance come naturally when you are a special needs parent. You learn to overcome obstacles on a daily basis. You are taught the most beautiful lessons of love, patience, hope, courage and moving on by your child only.

Friends and strangers view you as a very strong individual, and with every passing day you are more and more aware of your strength. People keep on commenting about how great of a parent you are and what a superb job you are doing. The phrases like, “you are a hero,” and “how do you do it so well” are repeated by many.

But nothing, nothing prepares you to say goodbye to your child. No matter how much you are both struggling, no matter how scary it’s become. The severity of the disease, the fatal condition of your child — nothing and no one can prepare you for this loss.

“We are going to lose him.”

I was frozen with the echoes of these words as soon as it came out from the doctor’s mouth. How can you prepare yourself for your child’s death? How do you handle, let alone save yourself from this gigantic blow?

Everything around you seizes. Stops. Period. No movement. No feelings. You are only breathing, and then you accept it. I was hit with this most painful blow a little over seven months ago. My son, Amaan, was only 13 years old. He was pure, lovable, happy, naughty and full of life. He was a born fighter. Living with a rare mitochondrial disease, he often succumbed to the worst seizures. But his happy-go-lucky, positive aura was his strength, and mine too.

He taught me to handle pain with smiles, to keep walking in the dark tunnel, to keep moving and holding on. He taught me how to handle grief. Amaan continued to give me strength even in his last days.

He still does.

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6 Ways to Become a Legislative Advocate for Your Child

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In April 2016, Kentucky passed legislation that mandates private insuranceto pay for ‘therapeutic food, formulas and supplements’ for patients who are diagnosed with mitochondrial disease,” according to the Lexington Herald-Leader.

Twice a day, our 5-year-old daughter takes a compounded mixture of vitamins and supplements known as a “Mito cocktail.” Prescribed by her neurologist, this cocktail has shown many positive results, including increased muscle tone, stamina, stability and a lessened intention tremor. To date, the Mito cocktail is the only treatment currently available for mitochondrial diseases.

However, less than 10 percent of insurance carriers cover this needed medication. Although Kentucky law already mandated coverage, our private insurance carrier continued to deny coverage every month, even going so far as to insinuate that our daughter takes it for “cosmetic purposes and performance enhancement.”

Frustrated over the blatant wrongdoing by insurance companies, we decided it was time to clarify what was already mandated in existing Kentucky law.

Over the past few months, many have asked for advice so they can duplicate our success in other states. Before offering a few general tips to help get you started, I would be remiss not to mention that my husband and I have a legal and policy background. We have good friends who are Kentucky state legislators, and we are familiar with the political players of our state.

Since 2013, we have become vocal, well-known advocates for our daughter through our various social media accounts, our blog, Hope for Katherine Belle, as a contributing writer for the The Mighty and by appearing in The New York Times Motherlode blog. Yes, our careers and platform were instrumental in the speed with which we passed this bill, but don’t be discouraged if you don’t have a similar background.

Finally, I believe timing played an important role in rapid passage. During the same session, Senate Bill 146, known as “Noah’s Law,” called on insurance companies to cover amino acid-based formulas, just as we were calling on insurance companies to cover prescribed vitamins and supplements for mitochondrial disease patients. Early passage of Senate Bill 146 and subsequent publicity was fortuitous: Legislators became familiar with the ways insurance companies manipulate language to deny coverage for medically fragile patients. 

Kentucky State Senator Ralph Alvardo, Senate Bill 146 sponsor and physician, had another bill filed relating to insurance — Senate Bill 18 — to which the following floor amendment was later added:

Amend KRS 304.17A-258 to specify that mitochondrial disease is an inborn error of metabolism or genetics to be treated by products defined as “therapeutic food, formulas, and supplements” and that health benefit plans that provide prescription drug coverage shall include in that coverage therapeutic food, formulas, supplements, and low-protein modified food products for the treatment of mitochondrial disease; specify that this act shall take effect January 1, 2017.

Here are six ways you can become a legislative advocate for your child:

1. The best advocate is an individual personally affected by the proposed legislation.

Although a legal and policy background is helpful, it’s not required to be an effective advocate for your child or yourself. Advocacy work is not for the faint at heart — it’s a slow, frustrating, deeply personal process, and, arguably, the most crucial part of the legislative process. With hundreds of bills filed per session, legislators depend on advocates to educate them about a subject matter, and, as the expert, you are the most qualified person for the job.

2. Request a face-to-face meeting with your representatives or their staff during the slower months between legislative sessions.

They represent your interests and should be willing to listen to your concerns. Tell your representatives your story. You’re the expert; teach them everything they need to know. Schedules are packed during session, so it’s best to establish a relationship well before the start of session — this will give you ample time to tell your story and draft any proposed bill language. Likewise, meeting with legislators is an excellent way to learn more about the internal dynamics of your state legislature. Your legislator may not be able to help you directly, but they can help you navigate your way to the person who can be most helpful. And trust me, if you worked around legislators, you would quickly realize there’s no reason to be intimated by them. Yes, they are public figures, but they’re human just like the rest of us.

3. Do your homework and be specific.

While your personal story is the most powerful component, be prepared to share any relevant medical and scientific research as it relates to your cause. Likewise, you have a much better chance of success if you can present legislators with a complete package of drafted legislation, including where it falls in your state’s statutory scheme, as well as any statistical and economic information related the bill.

4. Create “buzz” for your cause.

Establishing a “presence” through social media is a powerful tool to communicate your cause. Don’t limit your audience to just your own district or legislator — increase your reach across the entire state.

For example, create a Facebook page dedicated to your legislative efforts, contact local media or involve support organizations to broaden your reach. Ultimately, the bigger the “buzz,” the harder you are to ignore.

Our daughter’s Facebook page and blog has a strong following. When we made the call for action, people listened and acted. Providing easy-to-follow links with letters to copy and paste and telephone numbers to dial, our grassroots strategy quickly gained momentum across the state. Voters were voicing their support for SB18, and legislators were listening to what their constituents were telling them.

Just as you presented a complete package to your legislator, it’s as important to present a complete package to your supporters.

5. Know your audience and be prepared for the unexpected.

Do your research on the political climate and the key players in your state legislature. Even though your cause should be a non-partisan issue, I can’t emphasize enough the role politics play in the legislative process. Although this may not always be the case, brace yourself for the ugliness that is involved in the making of laws.

Understand beforehand that it is within the realm of possibility that your cause will be used as a political football. Powerful opponents may come out against you. Establishing a public presence and creating a “buzz” for your legislation is key leverage should you need it. There is only so much a legislator can do from inside the legislature to get a bill passed. Your outside advocacy strategy may play an even more important role.

6. Never give up.

You’re unlikely to succeed the first time you try to pass any legislation. Keep trying. Involve more advocates, make more alliances with key legislators and never stop advocating for your child. Nothing on this planet is more powerful than a parent’s love for their child.

Follow this journey on Hope for Katherine Belle.

Lead photo source: Thinkstock Images

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The Part of Mitochondrial Disease That's Hard for Me to Talk About

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My husband and I on a couch
My husband and me.

So here’s the thing, since I first started showing symptoms of mitochondrial disease over six years ago, many things have changed. My life has involved way more doctors, and I’ve been learning to pace myself so that I live productively with my greatly decreased energy level. Those are both things most people know about me.

What most people do not know is, as vane as it sounds, the hardest part of my journey has been dealing with the changes to my body.

My body is under constant attack. I have had a brain tumor removed that has resulted in a bald spot on my head, around five abdominal surgeries that have each left their own unique marking on my stomach, a muscle biopsy that left a large scar on my leg, and have been on weight gain-causing medication since my illness began, resulting in 100 pounds more of me. At times, I feel like a life-sized operation game.

After all these changes and scars, I struggle to recognize my body as my own. I remember what I looked like before I was sick and wonder when I started looking so different. I struggle, especially in the summer, with the confidence to get dressed in a situation-appropriate manner and head out in public. I often resort to long sleeves and pants, even if I’ll be the only one all covered up. In my mind, it is easier to stick out because of outfit choices than because of my scarred body.

Just because I lack confidence in this body does not mean I am ashamed in any way of what I have been through. I am proud of all I have overcome. I have heard on several
occasions that I just wouldn’t make it through the challenges my illness has presented, yet here I am.

I just cannot yet show these things to the world. I am still learning not to harshly judge my own body.

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I'm an 'Angry Disabled Girl' Sometimes, and That's OK

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When my mitochondrial disease started progressing rapidly and I dove feet first into the category of “Disabled Girl” and “Wheelchair User,” I wanted to stay the same person and not be changed heavily by my disability. All me, just now in a wheelchair.

Part of what fueled my stubbornness was that it seemed like the people with disabilities I knew were always angry.

Angry at doctors.

Angry at able-bodied people.

Angry at their environment.

Angry at society.

I saw this anger and to me it looked so ugly. I wanted so much to be “above” that anger. While some people were hitting people with their canes and “running over” people with their wheelchairs, I would educate people about mitochondrial disease. While some were snapping at able-bodied people for saying the phrase “wheelchair bound,” I was going to tell everyone that without my wheelchair I would be bed bound. But as you can imagine, things are not that simple.

One Monday changed my perspective. It started with me calling an Uber to my apartment. When the driver got there, he kept yelling “The door is open!” I eventually transferred into the back and asked him nicely to put the frame of the chair into the back. He then went on, saying he didn’t have to help me and that most “wheelchair bound” people take paratransit. After a minute or two he did put my frame in the trunk. But of course he didn’t stop there, he had to mention that when he picked me up that he didn’t know I was in a wheelchair; he just thought I was short. Only last week I had two Uber drivers cancel on me on the same day. And if you think this problem is confined to Uber, I’ve had paratransit drivers say I have “too many problems” to ride and that I’m “too much of a liability.” Every time I leave my house I take a gamble.

I was supposed to take a wheelchair accessible taxi to my college on Tuesday so I could go to class in my electric wheelchair, but they sent a standard cab instead, with the excuse that they only have a limited number of accessible vehicles and I should have called two days ahead. Never mind the fact I tried to confirm the wheelchair taxi many times. It’s just my luck my doctor admitted me to the hospital a couple hours later anyway — at least I don’t have to worry about the ambulance being accessible.

So what does this have to do with my anger? This stuff happens to me every day. And while I don’t care about every little thing, these daily hassles build, especially when you have as little energy as I do. And with little energy comes little energy to respond to discrimination.

Take for instance this woman in my building — let’s call her Linda. She loves to come out of nowhere and “help” me. She does stuff like opening the door in a way that doesn’t let me get through, and offering constant inspirational advice. Linda can’t believe I can open the door to my apartment. Linda wants to congratulate me on pressing the button to close the elevator door. Linda would like me to to know it’s so nice that the doctors “let me out in the world.” No joke, she actually said that.

When I leave for physical therapy, Linda is there at the front door. When I go to class, Linda is there in the elevator. When I’m watching Trump win the New York primaries, Linda is there to tell me I’m so pretty for a girl in my condition.

The first couple times I nodded and said I have to go; the rest of the time, I tried to ignore her. But one special day when she came up to me, I couldn’t hold it in.

The same day I had to deal with someone parked in front of the sidewalk so I couldn’t leave my building.

The same day I had to deal with the Uber who quit once he saw I’m a wheelchair user.

The same day I had to wait two hours to pick up a single written prescription.

The same day I had to army crawl to get under the door in the wheelchair accessible stall at Hopkins, the #1 hospital in the US.

When I got home on that day, when she told me “good job” as I got my mail, I did not hesitate to tell her how rude she was being. I told her she was talking to me as if I was a toddler, and that wasn’t OK. She did not take kindly to this. It was as if I questioned her entire worldview, which in a way I had.

In that moment I realized I had become what I tried so hard to avoid. I was that Angry Disabled Girl.

But I wasn’t one by some malicious choice or attitude. Our lives as severely ill and disabled young adults are so much harder than those of our peers. Even the smallest things can turn into an ordeal, and those ordeals accumulate when you are running on poor sleep, fatigue, and lots of pain. Could I have been nicer to her specifically? Definitely, but that moment of anger was the wake up call.

I don’t think anger is necessarily a bad thing, as long as we take that anger and put it into social change to make our local communities better. You can make a difference in your town or your city. At the very least, you can share your anger and struggle to inspire others to fight for accessibility.

I truly believe most ableism and inaccessibility comes from ignorance. At least with anger our voices are heard and noticed. As long as I learn to direct my anger at problems and inaccessibility and not at people, I don’t think I mind being an Angry Disabled Girl, at least every once in a while.

 

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I Need to Apologize to My Friends for 'Surviving Selfishly'

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Friends, I need to apologize. I know you won’t want me to, and will ask me not to, but I have to. It’s the right thing to do. It feels right to me, and because of that I must.

Having a chronic/life-limiting disease such as mitochondrial disease is extremely overwhelming. It overtakes every single part of your life without you even realizing it. It slips in slyly like a boa constrictor and slowly squeezes the life out of you.  

With rapid-onset mitochondrial disease, you don’t have the time to put the oxygen mask on yourself first, so that you can reserve the strength and energy to help those around you cope. You are constantly grappling at one shoe while the other is falling off. You are trying to take steps forward while being thrust quickly backwards. It rapidly becomes a situation where most times instead of living you are merely trying to survive, and because of that selfishness becomes a mechanism of survival. It isn’t an excuse. It is the reality of an unfair situation, and it doesn’t feel right, because it isn’t.

kate sytsma article
Kate’s friend visiting her in the hospital.

Good friends make it really easy to become “necessarily selfish.” They “understand” when you go into hibernation for weeks while you muster up the strength to keep living, even if it means you’ve missed their important life events. They don’t get upset when you have failed to ask how their days are, even when you have been speaking to them for an hour about your day. They don’t bat an eye when you forget their birthdays, even when you are speaking to them on their birthday. They don’t expect you to reciprocate childcare (nor would they ask you to when they really need it). Thus the poor habit of a one-sided relationship begins. It’s easy to happen even to the best of friends, even when you don’t mean for it to happen at all.

Why? Because tragedy is supposed to be temporary. The amount of one-sided caretaking and the reception of that level of care is supposed to be short term until you get back on your feet and are able to create a normal life for yourself. With a disease that is constantly progressing, that is nearly impossible. My typical is constantly changing, and therefore my loved ones are constantly trying to help me pick up the pieces and move on again. Mitochondrial disease doesn’t just effect me, it effects everyone around me. It is poisonous.  

So, I apologize, because I have to, whether the contagion that this disease has created is my fault or not. I am profoundly sorry for all of the days that ended before I asked you how you were doing. I am sorry for all the times social media had to remind me it was your birthday before I remembered. I’m sorry for all the days that passed before I responded to your text messages, although I appreciated them immediately.  

Please know I could not get through a single day of this disease without you. Your efforts never go unnoticed. Your strength to stick this out with me is nothing short of admirable. You are a large part of my ability to fight this disease. Thank you every day for everything you have ever done and ever will do.

Follow this journey on A Different Dream for Us.

The Mighty is asking its readers the following: Write a thank you letter to someone you realize you don’t thank enough. Check out our Submit a Story page for more about our submission guidelines. 

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