Down the Rabbit Hole

When I was little, I read “Alice in Wonderland” and saw the movie many times. I have heard and seen this story over and over. Recently, I watched a clip of Alice’s journey “down-down-down” into the rabbit hole. I could not shake how closely this scene mirrors life with mitochondrial disease.

In the scene, Alice is going about her business, when in an instant everything changes. She is thrust downward into the world of the unknown. That, my friends, is exactly what life with mitochondrial disease is like.  You have no idea where this path will take you, or how  and when things will end.

At the start of your mito journey, what you do know, is that something is just not right in the body. Your journey may start slower, or life may change in an instant like Alice’s.  You have a multitude of issues – some small and perhaps some larger ones – all seemingly unrelated.  And from there, it just goes on and on, as you fall deeper into all that comes with mitochondrial disease.  You live with unknowns every single day and life is never the same again.

As Alice falls, she spins and spins, disoriented and has to work to “center herself”. Unexpected things pop up along the way at every turn.  One scene in the movie that really resonated with me was when Alice lands in the chair after falling for quite some time. At first, she is caught off guard, and appears almost hesitant to sit in the chair. Then, right as she relaxes and settles into the chair, she is thrust out of it, back into falling further down the hole.

As the parent of a mito kid, this could not be a better illustration of our life. Every single day is different and unpredictable. Our daughter’s symptoms can worsen in an instant, and she gets new ones all the time.  It is extremely disorienting.  It seems as every time we “find our groove” and settle into a routine and sense of comfortableness of any kind, we too are abruptly thrust from our comfy chair.  It is difficult not to be in a constant spin, and challenging to embrace the calm, knowing it is only temporary and not knowing what is to come or when.

It is dark in that tunnel Alice is in, and even when she manages to turn on some light, it is dim at best. She reads some, and just continues to fall.  Before your child gets diagnosed with mitochondrial disease, there is a lot of darkness, most often related to ignorance. You don’t know what is wrong with your child, and you oftentimes can’t find anyone who can help. The knowledge about mitochondrial disease is just not where it should be, even in the medical community. People with good intentions can only do so much without the knowledge and education needed to help their patients. Specialists are few, and not always accessible.  When you see your child struggle and can't seem to find answers or assistance, you feel beyond helpless and alone.  Once you get a diagnosis (and treatment), your world gets brighter, but there is always some darkness that remains because we just don’t know enough about this disease.  

Every individual is different in how the body manifests mitochondrial disease. Mitochondria provide the energy your body needs to sustain life and growth. They are in every cell of the body, and can affect your organs.  Your symptoms will be based on which cells are affected, and this varies greatly from person to person, and the type of mitochondrial disease you have.  Mitochondrial disease is progressive, and as such, when you have it, you continue down the rabbit hole. How quickly (or slowly) depends largely on the treatment received and the overall health of the body.

When Alice finally lands at the bottom of the hole, it is quite appropriate that she lands upside down.  Mitochondrial disease turns life upside down for sure. Once you are in it, you are in it for good.  But here’s the thing, like Alice, you can turn yourself around and stand back up.  It’s a choice.  There is a lot that is difficult, exhausting, and painful about Mitochondrial disease, but it is just one part of this life we were given to live. It should not rob you of the joys life has for you, or keep you from living life to the fullest.  My “mito kid” Natalie has one of the most vibrant spirits of anyone I know. She is resilient and chooses to live every day giving it her all. At times, like all of us, her world can get turned upside down, but like Alice, she does not stay there. She gets up and moves forward, ready to conquer whatever lies ahead of her.

It makes me chuckle toward the beginning of Alice’s fall, when she is barely into it, and has just had the initial big drop. She says, “after such a fall as this, I shall think nothing of tumbling down stairs!" My husband and I talk about this all the time. Things that used to seem daunting, frustrating, or challenging, are so minor to us now.  We also do not take things for granted as much as we used to. Like Alice, our whole perspective on life and all that comes with it has changed.

For those people who are just starting your mito journey, I want to encourage you to keep on keeping on. You’ve got this. It’s messy and quite a ride, but you are not alone. And similar to Alice, you may find closed doors over and over while seeking care or help for you and your child, but do not let this detour you. Persevere and keep moving forward. Become the expert. Do the research. Be the advocate. Refuse to give up. And…know it’s okay to have meltdowns. Just don’t stay down. Get up like Alice and trudge ahead – even when it’s hard. Know there are those that stand with you even though you can't see us.

Unlike Alice who made the choice to follow the rabbit and ended up falling down the rabbit hole, this is not a path we chose to go down willingly. Nevertheless, it is the path we are on.  We do not know what surprises lie ahead or where this rabbit hole of ours will end. All we can do is do our best to tackle whatever comes our way and not get so overwhelmed by the journey that we fail to see and appreciate all the beauty in our lives and in ourselves.

Link to movie clip: Down the Rabbit Hole

Complicatedly Simple

Life around here is never dull. In fact, it’s what I would call “complicatedly simple”. You may be asking yourself, “Doesn’t she mean simply complicated?” Nope, it may not sound as pretty or grammatically correct, but it is definitely the more accurate of the two phrases.  I want to stop here and say this is not a complaint - just a statement of fact.  I am very blessed and thankful for my life, even with all of its complicatedly simple aspects.

I have worked at a school for the last 7 or so years as a teacher and then most recently an administrator. I also recently (about a year ago) received my master’s degree in special education. I have always loved working with kids, unlocking what lies within, and loved having the opportunity to learn more and apply it in the educational setting. Ironically, as all of that came to a close, it became abundantly clear that the needs at home were growing larger, and it was increasingly more difficult for me to balance everything.  At the beginning of the last school year, my daughter was in the middle of an 8-week migraine, and had to be hospitalized twice within the first month of school, once for a week and again for about 5 days.  When not in the hospital, every day was a struggle, and I could not even fathom how I would get through the school year. Once we “beat the migraine”, things were better, but never easy, and I found myself stretched so very thin, unable to give everything I wanted at home or work because it was just impossible. I think that is hard for anyone, but especially someone like me, who always likes to give my full heart and best effort to whatever and whoever comes my way.  Mike and I, along with those who I work for and alongside at the school, worked hard to try and make adjustments to my schedule or workload, Mike changed his schedule. We tried everything. It honestly was exhausting and such a complicated mess. We were at a loss of what to do to get out of “survival mode”.

In actuality the solution was simple, just hard for me to swallow. Mike and I made the decision for me to step down and stay home next year.  Who knows? It may be longer. For now, it honestly is necessary. Natalie is headed to middle school and we aren’t sure what those new demands will bring for her or us. It was challenging to accept that I would need to stay home, but so very clearly the right decision.

Living with a child with mitochondrial issues is quite a ride. Mitochondrial Disease is fascinating. In its most extreme forms, you do have “mito” kids (and adults) who look like what one might expect, with tubes, machines, and more. Many of those affected; however, look just like Natalie.

In many ways every day is different. You don’t know what each day will bring. Will it be a good day or a hard day? What symptoms, if any will flare?  Will the flare or episode/issue be more minor or will we be in the hospital for a week? You just never know. In other ways, every day is the same. You, as parents, have to be on top of everything. You do all you can to make sure your child is able to experience as much normalcy in life as possible.  It’s the little things that matter - going to (and thriving in) school, participating in activities, having fun outings/sleepovers with friends.

The reality is Nat cannot do as much as others can do, or all of the things that others can do, but what she can do far outweighs what she can’t.  She is thankful to go to school and loves being with her friends. She will push through as much discomfort as she can to be there. Natalie will go to a slumber party and have a blast knowing full well it will likely result in 1-2 challenging days of symptoms afterward.  We learn from her and her amazing spirit every day.

In the last few months, I have had various people make comments to me such as “Natalie looks great”, “Natalie looks so normal”, and/or “You would never know Natalie has medical issues. She doesn’t seem much different from my kid”, “I don’t understand why you need to stay home. She seems like she is doing well”.  It is hard to know how to respond to them.  In many ways, I think it is quite awesome and see it as a huge compliment.  I say that for a few reasons. First, because our goal as parents is to make sure she doesn’t see her illness as a restriction or allow it to define who she is.  We want her to retain her joy and adventurous spirit.  It also speaks to the efforts of both her doctors, and us as her parents, who work so hard behind the scenes to support her needs and ensure she can do as much as possible without compromising her body. The good days are the result of a lot of work  (and are often accompanied by unspoken pain or issues going on inside her body).  I’m telling you that kid can do more with a migraine than anyone I know.  And…we don’t dwell on or post much about the hard stuff.  If you know us at all, we like to smile and have fun.  We work through the challenges together, and live life to the fullest we can. I think we do a pretty good job.

As a family, our schedule revolves around Natalie’s needs. Not because we cater to her, but because it is a necessity.  She has to go to bed at 7:30 during the school year. She must take all 10-12 pills and 2 liquid meds each morning and her 3 pills at night. Each of them is necessary. She has to eat balanced meals on a regular schedule including snacks. She cannot be out in the heat for long periods of time.  Her level of energy varies day to day so we have ideas, not plans, and often must make adjustments because of how she is doing. There is also a lot of coordination required for her schoolwork due to her fatigue and absences. Last year, she missed 60 days of school, which meant one of us had to be home with her each of these days AND resulted in a lot of home teaching and work.  I could go on and on.  We manage her diet, sleep, rest, activities, illnesses, and stress level – all things that require energy from the body. It’s simple to say – actually doing it is a whole other story.

She, and life with her, is complicated and hard to explain in a manner others can fully understand, but in some ways, it has made life quite simple. Her situation causes us to have very clear priorities. It prevents us from overscheduling our lives. It gives us a lot of downtime together as a family.  It keeps us from taking things for granted. It ensures we make the most of the good days.

I’ve got to be honest. I don’t really understand it all myself.  I look at Natalie some days and am baffled that she has Mitochondrial Disease. I come to understand a little more with each test result and talk with the doctors, but it is all very weird.  True to this complicatedly simple life we live, Natalie had a muscle biopsy in January and two of the three test suites for it have been completed. The goal of this testing is to determine the specific type of Mitochondrial Disease she has so that her treatment can be more effective and prognosis more specific.  The results clearly show a mitochondrial problem and are not normal. That said, according to her doctor, they are rather complicated making it hard for them to map to a type with certainty.  Third test is a charm? We will see. For now, I am so thankful her situation is not more extreme and pray that continues to be the case as she grows.

Natalie is also going to have surgery this Wednesday. She has sleep apnea, and the doctors have not been able to pinpoint the root cause. As her ENT said, “Natalie’s presentation is not the norm”.  Because of this, they are going to do a sleep endoscopy where they induce sleep with anesthesia and insert a camera to watch her airway as she sleeps in an effort to determine what is causing the breathing obstruction while she sleeps. If they determine the cause, they will handle it surgically right then and there.  The current theory is that the cause is her lingual tonsils – the second of three sets of tonsils we all have – did I just blow your mind with the three sets of tonsils thing? Oh the things we learn by being parents to this kid. Anyway, removal of these results in a hard recovery, with 7-10 days of significant pain and difficulty swallowing. That doesn’t bode well for a kid who needs to be super well hydrated and have a balanced food intake.  But, we shall see. On one hand, Mike and I do not want her to have to have an actual surgical procedure. If that is the case; however, that means they could not correct the root cause and she will need to be on a CPAP machine when sleeping for the rest of her life and things will just worsen. On the other hand, most of the likely surgical options will be more than unpleasant and come with their own set of challenges, but hopefully, with a better long term outcome. Sleep apnea and Nat – complicatedly simple.

In our family, we always say that “normal” is boring.  Natalie is far from normal, she is extraordinary, and so is this complicatedly simple life we live.

Super July!

 

I can’t believe we are at the end of July. No really, I can't!

 

The end of July means we are 2/3 of our way through summer vacation. It also has special significance this year because this is the first July in a few years that has not involved a 7-9 day hospital stay and major issues for Natalie. I am so grateful for this “reprieve” of sorts and so is she! We made changes to her medication and Mito cocktail she takes each day mid year, and that seems to have made a huge difference.  That is not to say we have been issue free. Quite the contrary, she has issues of some sort every day.  The difference is they have been more manageable. We have continued to work hard to make sure we do our part to keep her on a good sleep/food schedule, make sure she has all of her meds, and make sure she doesn’t’ overextend or isn’t out in the heat for extended periods of time. Her level of energy varies day to day so we have ideas, not plans, and often must make adjustments because of how she is doing. Summer is easier because we don’t have to adhere to a school schedule and can ease into the day. Our schedule largely revolves Natalie’s symptoms, with more activities possible on the very good days and a lot taking place before it gets super hot in the afternoon.

Natalie has a variety of symptoms, but the ones she deals with daily include fatigue, shallow breathing, heat intolerance, and migraine symptoms of varying degrees. The shallow breathing one is newer as of this last year and is something she deals with every day, with it worsening during times of extreme fatigue or migraine episodes.  She is not in any danger with it, but it is horrible to feel like you are not getting good, deep breaths.

Even with the symptoms she still has, it has been SO much better this summer enabling her to be more active and enjoy summer. As a 4^th of July lover, I was extremely happy to be with friends, family, and fireworks instead of in a hospital room like last year:). Mama loves her fireworks!

Natalie is SUPER excited it is the end of July because today she is heading to the Muscular Dystrophy Association (MDA) Camp. She will be there all week without us, getting to do all kinds of fun things. Last October we learned that her condition falls under the MDA umbrella, which was another level of realization about her situation that her daddy and I had to work through.  As an “MDA kid”, she qualifies for various things, one of which is this camp opportunity. She has been looking forward to this since the minute she heard, while her daddy and I had to make friends with the whole idea of her going. I am not going to lie. It makes me nauseous as I think about dropping her off for the week. 

It is the perfect camp situation for her to be in. The camp is in the Bay Area (because it is cooler there for her). She will have a one-on-one counselor the whole time, and her doctor is the physician on site the entire time – obviously she will be well cared for. And…it is an amazing program with awesome people! She will be very blessed, and have a wonderful opportunity for personal growth as well.

The theme of the camp is “superheroes”, and Natalie is all over that. She has a superhero outfit packed for every day of the week. When she heard there was a camp dance, she wanted me to make her a Batman costume with a t-shirt and tutu.  I suggested she come up with her own original superhero instead. Being Natalie, she promptly replied, “Oh I already have one” and proceeded to tell me all about her superhero alter ego, "Sonic Energy" including her powers, back story, outfit, and all. (I have to be honest, every time she says Sonic Energy's name, I just hear JJ Fad's "Supersonic" in my head.) 

So Batman was scrapped, and we created a "no sew" version of Sonic Energy to bring to camp according to Natalie's very specific requirements:). 

Natalie is all packed and ready to rock camp, and will undoubtedly have a great week with activities galore. Mike and I, on the other hand, will not know how to function. Did I mention our schedule and way of life revolves around that kid?  Kyle will probably be tired of all of the personal attention he receives in her absence, although he will want some when he is recovering from getting his wisdom teeth pulled Wednesday. I am sure he will be a big baby:).

Here she is Natalie in her “Sonic Energy” costume. I love that kid. I love that she is excited for camp. I love that she lives life to the fullest, no matter what comes her way. And I love July this year.  

Seeing Red

In early February, we received a call from Natalie’s doctor advising us of her preliminary muscle biopsy results which confirmed, after years of tests and issues, that she did in fact have a mitochondrial condition, after years of tests and issues. It was quite emotional for us for many reasons, which I wrote about in a previous entry,  And Then I Cried. 

In this same phone call, her doctor talked through what was to come to “finalize” her diagnosis. There are many types of mitochondrial disease so just having evidence of a mitochondrial condition only gets you so far in terms of determining a person’s long term prognosis. Many symptoms and manifestations/genetic abnormalities can be present in more than one type of “mito”, therefore, all testing results need to be completed to get the full picture of what is going on. He shared that he would take these preliminary results, and then wait for more extensive testing to be done at two different hospitals to come back within about 6 weeks. At that point, he would also incorporate the various genetic testing lab work results, our genetic history, and come up with her formal diagnosis.

This formal diagnosis is critical as it helps guide her treatment. It also helps us have a better understanding of her prognosis, and provide information about what this will most likely look like long term. Honestly, it’s everything.

When I called to check on the status of her results after 7 weeks or so, I was very disappointed to find out that the samples had not yet gone out due to some insurance red tape, and that we would have to wait another 2 months or so.  More recently, Mike and I have learned that not only have the samples not left our SF hospital, but also we have a choice to make. Basically, insurance will cover 50% of the tests because they are out of network (out of state actually), and the labs are being very unspecific about what that cost might be. We are being put in a position where we either have to sign on the dotted line and say we will pay for whatever insurance does or not OR not go forward with the tests.  Are you kidding me?!?!?

All I can say is this is a horrible position to be in. These tests are not cheap so the out of pocket could be extensive – thousands upon thousands of dollars. But without the tests, we don’t have the much-needed information about the prognosis and treatment.  I cannot even begin to tell you how much I hate this position – and how much I hate knowing that the answer is in those tests – but we are having to wait and wait and wait, and make this decision.  We do have people who are trying to get a better idea of the ballpark cost so we know how crazy much we are talking about, and also are getting creative about how we might be able to approach the testing (i.e. are some tests more critical than others).  That said, It.Is.So.Frustrating.

I hadn’t really shared the preliminary results previously because I thought we would have all the answers sooner rather than later, but I have had people asking about this so I figured I would share them. I also know, when I have shared them, it has been helpful for other “mito” moms.

Here is what we know so far about her muscle tissue biopsy (in as much as I can explain this very complicated stuff):

·       In one of her stains, it shows the beginning of what is called red ragged fibers.  This is something classic in people with mitochondrial disease. The presence of these gets worse as the disease progresses. It occurs because the body starts producing massive amounts of mitochondria to combat the deficits and they sort of start “talking over”, causing the "ragged" appearance.

·       The stain also showed that there is extra connective tissue between the muscle fibers. This is present because there has been damage or death to the tissue because of mitochondrial damage or dysfunction – it is similar to scar tissue.

·       She has an increase in something called SDH, which reinforces the fact that there is an abundance of mitochondria.

·       She also has excess mitochondria because her body is making over to compensate for all of the deficiencies.  Also, while most people have 60% type 1 mitochondria, and 40% type 2 mitochondria, Natalie has only 25% type 1 and 75% type 2. This is because her body is trying to make more type 2s to cover for the lack of type 1s

·       Another stain revealed that her body is not processing fats properly, which is something I have long thought to be the case.

·       Overall her mitochondria are not doing well, and there is clearly an underlying issue. Her body has to work very hard to try and keep up with the demands it has on it.

·       The prognosis is hard to determine; however, this will be progressive – it will get worse over time and is not something she will grow out of. This is different from what doctors initially thought as they had thought she was one that was more apt to grow out of much of this. The question is how bad and how fast the progression will be. The current thinking, without the more extensive results, is that it will be a more slow progression than many of the mitochondrial diseases. We will not know for sure (or at least have a better idea of this) until all the testing is complete.  What he did say is the progression will be affected by all major hits to the body (i.e. illnesses, etc.).

I am hopeful that we will get to a more specific diagnosis. . We need this and I am not ready to just give up. We are "thisclose".  The more specific diagnosis is what allows us to have a better idea of what the future holds. I want to prepare my daughter (and myself) for what is to come. What I do know, is regardless of what the future might look like, that kid is a stud and can face whatever comes her way head on.  

As much as this situation and all that comes with it, including this testing debacle, makes me feel defeated at times, I am determined to find joy in the journey (even through tears) and just take things one step at a time.  And…approach it like my daughter. The other day I went in her room and saw this on her window (she has paint pens she decorates them with).  Love this kid. I want to be like her when I grow up.

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 Well said, Nat. Well said.