Excuse me, what did you say? Pt. 7

Mitochondrial Awareness Week is coming to a close, but I sure hope the rise in awareness continues to grow. My goal this week in writing a daily blog was not to raise awareness about Natalie. I write about our family's experiences because it is what I know and live, and therefore, the most effective way for me to share with readers. Writing this week was intended to give you but a glimpse of a much large reality. It was about letting people know that there is this disease that is affecting many people, predominantly kids, that few people are aware of.  My daughter just happens to be one who has it. It is Mitochondrial Disease. It is real and it is a battle. It is often considered an invisible disease, so in shining some light on it, my hope is/was to make it more visible, understandable, and tangible to the every day person.

Over the past year, I have felt increasingly led to play a role in bringing more awareness to this issue. It is an awkward thing to put yourself out there and open you and your family to others, but it is worth it to spread the word if brings more attention and awareness. I posted a link on Facebook early this week about a story CNN covered about a young boy who suffers from Mitochondrial Disease and his family. His mom and dad told his story to bring awareness. Unfortunately, it also brought out some of the worst in people. I finally had to stop reading the comments that people wrote. I need to retain my faith in humanity. I am so proud of the Martins and there willingness to be vulnerable in sharing their story. 

Maybe you know someone who has had a random mix of the symptoms I blogged about in Pt. 1 and now realize there may be a bigger issue going on within their body. Maybe you know someone whose authenticity you doubted when they talk of not feeling well and struggling physically and you now won't be so quick to dismiss them as dramatic or some kind of hypochondriac. Maybe you will feel compelled to tell others and spread the word about this condition, or support the cause in prayer or some other means. I just want people to know about it. I want to shorten the diagnosis time for patients. I want the appropriate testing and treatment provided for patients without them having to fight the battle, and also travel long distances to get it. I want patients to be able to have their emergency situations met with the proper and expeditious care required, instead of having to defend or fight to get it. I want more research. I want a cure.

I knew that I needed to take an active role as an advocate who raises awareness for Mitochondrial issues when...

1. Doctor after doctor could not diagnose my daughter, and some implied my daughter was a hypochondriac and/or  I was a some kind of Munchausen's mom. And...I realized this experience was not unique to me.
2. I  learned that many/most of these kids struggle in silence with no diagnosis for years because of ignorance.
3. Natalie's primary doctor asked me, a layperson, to come and speak to 40 doctors about Natalie's condition, her background, our journey, her symptoms, and diagnosis to educate them because she is the only diagnosed case in the region (that is not to say there are not others that fall into #1) and apparently, I had the most knowledge.
4. I realized this is a genetic issue, one that runs down the matrilineal line. People need to be aware of this. I learned that many of the random medical things that I have had in my life are related to this genetic root cause including my own issue with cyclic vomiting that occurs in five week episodes. I learned that some of my son's issues were tied to all of this. It is Natalie's manifestations are just far worse than ours. Her children, provided she has them, are much more likely to have issues. Many families end up having multiple children with Mito issues.
5. Four out of the five paramedics who came to my door to transport Natalie did not know what Mitochondrial Disease or Cyclic Vomiting were. The fifth only knew because he looked it up on the iPad on his way over.
6. I had to fight with the intake person in the ER for the umpteenth time when we arrived at the hospital because she didn't understand why my daughter's need for an IV was urgent. (I forgot her ER protocol letter and apparently looking her history up is too difficult).
7. I discovered I actually had to have an ER letter in order to get appropriate treatment for my daughter because no one is knowledgeable about her condition.
8. On day 7 of her last hospital visit, it was clear that the doctors at the hospital really had no clue what steps to take to help her and the pediatric intensivist told me he had no real knowledge about her particular condition so he would have to find someone to defer to (but would not contact her specialist because he is not formally approved by Sutter as her doc).
9. I realized the hospital resident was spending so much time with me asking me questions not because he was trying to develop a plan, but instead was trying to learn from us.
10. I continued to have constant battles with both our medical group and insurance company to get the coverage Natalie needs because they do not understand her condition. Explaining it every time I call to argue/appeal is quite the event and frankly, it shouldn't be a battle.
11. I read more and more about Mitochondrial Disease and realized how tragic some of the stories really are,  What Natalie goes through is horrible, but others have it so much worse, Kids die from this and many kids who are alive aren't really living.  
12. I began to connect with others on social networking and realized how desperate people are to find the proper doctors and effective treatments for their children - and what a challenge this currently is.  
13. It became more than clear that those of us with Mito kids are really currently each other's best resource. We are all in different parts of our journey and need each other. I "met" a mom who was in the quest to find an appropriate doctor and treatment for her son, Christopher, who has Cystic Fibrosis and Cyclic Vomiting Syndrome and realized she was in Northern CA. I was able to share our experiences with Dr. Boles and information about the "mito cocktail" Natalie is on. We were able to compare notes on doctors we have seen/see locally as many are the same. We support each other with tips, knowledge, and prayers as symptoms change and episodes arise.  We have a shared understanding of what this is like. I swap information with individuals all the time because in this battle, awareness and knowledge is everything. Without it, your child pays the price.
14. I realized that many medical issues of today are proving more and more to be tied to mitochondrial dysfunctions in the human body. What if by raising awareness and learnign more about mitochondrial issues, we are able to eradicate or lessen the instances of so many random illnesses and challenges people face today. It would be amazing.
15. I felt that divine calling to speak, and give a voice to this little known disease that impacts so many.

I don't know what advocacy looks like for me in this yet. I will take it as it comes, one step at a time, like we do with Natalie each day. What I do know is that I have a lovely group of friends who are joining with me to put on a 5K in February to raise awareness and funds for the CureMito organization. Instead of saying I was crazy, they jumped right on board. It is awesome.

The 5k will be taking place on February 17th in Sacramento. There will also be a 1/2 marathon in Pasadena as well as an event in Florida, for CureMito on this same day. How cool is that?!?

I have to be honest. This whole 5K thing is all new to me. I am in way over my head:). I am not worried, however, I know it is what I am called to do. I can't wait. I am so blessed to have friends who are committed to working beside me to pull it off as we work in partnership with CureMito.  If you have any tips for sponsors, locations, or any other aspects of the race, email me at ndion18@comcast.net.

I leave you with this...
 

Excuse me, what did you say? Pt. 6

"I can't go. I'm scared. I don't know what will happen." This was my daughter last night as she prepared to go with my aunt to see the Olympic Gymnasts perform out at Power Balance Pavilion. She has looked forward to seeing this since it was first announced. She LOVES gymnastics and idolizes those girls. She was so excited, but also scared and nervous.  Frankly, I was nervous too. 

She has not been anywhere with anyone else since her July hospitalization because her body has been so out of whack and unpredictable. I am super blessed to teach at her school, where her classroom shares a door with mine for this school year. "Big ups" to God on that one. She is able to have her independence and allow her teacher to care for her, but I am right there should significant problems arise. 

The "only being with us" status has not been an overprotective or control thing. It has been due to the fact that it has been hard to develop a "care plan" for someone else to follow should something arise. Even the one we attempted to put together for school was ineffective when she instantly became weak, super shaky, and mottled from head to toe one day - none of which was on the plan dedicated to cyclic episodes and migraines. We were getting to a more stable place and ready to have her venture out recently and then everything went haywire last Friday, resulting in 5-6 days of migraines of varying degrees, headaches, and other issues.  As a result, going into last night, my kid was an emotional mess, worried that she would be far from home and badness would happen. We armed her with all of her tools and meds, but the fear was still there. My husband I were talking through her fears with her and encouraging her to be "Bethany Brave", but I kind of think (know) we were also talking to ourselves. We had no clue if she would be fine or not, but also do not believe she should stay home due to a "what if" fear.  Her daddy came up with a plan to help us all out.

When the show started at 7:30, Natalie had the comfort of knowing her daddy was parked down the street from the arena doing schoolwork, and her daddy had the comfort of knowing he was minutes away should she need him. And, you know what,  the result was a fantastic night that she loved and could also be proud of. She was "Bethany Brave."

Most of the time, I am the more vocal of the Dion Duo, Maybe it's the mom thing, or the fact that I am more of an extravert, but typically I am the one who posts things, calls insurance companies, and speaks out. I think the male perspective, specifically the perspective of a father, a daddy, to a chronically ill child is powerful. Men are strong. They are fixers. But..there are some things they can't fix and that is a hard place to be in. 

Below is a snapshot into Mike's experience through all of this, in his own words...

My daughter Natalie is nine and a half. From the moment she was born I knew my wife and I were going to be in for a long haul. She started screaming and was full of life from the moment she was born. At the time these imagined challenges were concerns about boys, teenage attitude, and difficulty with friends. I also had fears that she would

Although she has always had random medical issues, this current illness started during a run on Thanksgiving Day almost three years ago. Natalie started throwing up and did not stop for the entire weekend. As an RN, I saw this as one of the many issues that happen during childhood. Kids get the flu, gastroenteritis, and a host of other things from other kids. That weekend we took her to the emergency room to stop the throwing up. We were told that Natalie did in fact have one of those childhood illnesses. She had strep throat.  I thought, great, bring on the antibiotics, and let’s get on with the weekend. We were released to go home. When we arrived home Natalie started throwing up again. I felt like a failure as a nurse because all the things I know to do when a kid is sick were not working. Eventually we had to take her back to the hospital for an admission to the hospital. 

To avoid being long winded, the next six months involved many different doctors with each one wanting a new test. Along the way, Natalie’s nausea never left. Around every Wednesday, Natalie would be extremely tired and sometimes take a three hour nap. When she woke up, she would still be tired and still have the nausea. After many tests and many instances of finally “finding a cause and a cure” our hopes were let down with continued nausea, constant fatigue, and a litany of doctors shaking their heads, and saying they just did not know.

By the time we checked our daughter for cancer, specifically leukemia, I almost hoped it would be cancer so we had an answer, and a possible cure. It was about this time that my daughter’s confidence, lust for life and “I can do anything” attitude started to leave. In the place of a bold, precocious child, we had a sensitive, scared, anxiety ridden little girl. Natalie worried and worries about everything. She has a nervous habit that causes her to pick her skin, when it scabs, she picks it again. Many times, she has no idea she is doing it, when you tell her to stop, she looks at her fingers, ashamed. This was the worst thing to see. There is a very real stigma in society regarding psychiatric conditions. I did not want that for my daughter.

When we saw new doctors this new anxiety was part of the health history. Unfortunately, this caused some of the more “shortsighted” doctors to write off the nausea, extreme fatigue, severe vomiting as anxiety. This is garbage. My kid did not develop anxiety and nervousness until being told for six months that we were no closer to finding out what was wrong.
It did not help that I did not understand the irrational fears and anxiety either. I would get angry at Natalie, she would start to cry and say that I “just don’t understand, don’t you realize dad, I hate this nausea. I hate being this way”. Natalie wanted to know why God was doing this to her. I had no real answer. No answer except for the usual crappy response, “one day God will let us know. I used to feel that God was a kid with a magnifying glass on an anthill. I started to think that way again. Some days, my child could not even ride in the car for fear of throwing up in the car. I just wanted my kid back. Natalie just wanted to be a kid again. The things she used to do like sleepovers, school, sports, even movies with friends did not happen anymore. If she did anything, mom had to be close by.

We saw a pediatric neurologist who asked questions but did not wait for the answers. When he did hear the answers, he dismissed them. He put Natalie on Topamax, a seizure medication that took away the nausea, but turned Natalie into a Zombie. She went from being an “A” student to a “C” student. Problem solving was non-existent. Natalie’s teachers said that she looked “zoned out” in class. We looked up the side effects of this medication when she started taking it. We knew this was a risk, but at higher doses. When we asked the neurologist about this, he dismissed the possibility outright while at the same time telling us that the “blunted” way Natalie was behaving was the new normal! We were not ok with this “new normal”, which was obviously caused by medicine side effects.

Eventually we found a doctor that was able to confirm a diagnosis for us. Natalie had Cyclic Vomiting Syndrome, a Mitochondrial disorder. The Mitochondria is the powerhouse of the cell. This is the reason we are able to do anything at all. The specialist, Dr Boles, put Natalie on a “Mito cocktail” that really helped. The nausea never left, but was very well managed. In addition he took Natalie off the Topamax. He referred to this drug as “stupidmax”. Guess what? The “new normal” as described before went away. The old Natalie started to come back. Confidence returned, Natalie’s fears subsided, and I felt we had an answer. We were so glad to have our daughter back.

Then last May, 2012, Natalie got way worse. Everything described above returned, but much, much worse. Natalie’s specialist explained that this was due to the rise in hormones and was in fact truly, “the new normal”. During the summer Natalie stayed in the hospital for nine days. We were back to where we were before we had Natalie on the “Mito cocktail”. Everything that worked for a year and a half before was no longer working. New issues came up, many of them including dysautonomia*, a dysfunction of the automatic nervous system. For the first time Natalie got nausea with a severe headache. Now the headaches did not go away either. Natalie asked me if she was going to die. I said no. What else do you say? Sometimes, it’s OK to lie to your kids. The truth is that I have no idea where this is going.

The hardest part of this illness, possibly worse than the suffering of your child, was the insurance company, Healthnet. They told us they would not cover the expense to see Dr Boles. This is the one doctor that kept Natalie OUT of the hospital for over a year!!! If anything, we saved them money by decreased visits to the ED for fluids and medications with eventual admissions to the hospital. This was despite the fact that every specialist Healthnet wanted us to see was telling us to see Dr Boles!!! In some cases we were denied after a one minute review of Natalie’s medical record that is hundreds of pages long. We know this because Healthnet sent the transcript to us. We were not supposed to see the transcript. The doctor (medical director at Healthnet) that denied us was an OBGYN. I am pretty sure she has no clue what Natalie’s condition is, then again, she does not care.

I have some sadness in me these days. My daughter has been cheated out of a normal life. I even prayed to God to heal Natalie and give the illness to me. He did not hear me. I sort of thought that if you selflessly asked for something, you could get it. I have a child like faith. Only a child would believe such a thing. My son suffers because my daughter’s issues consume our lives. We are getting better about making plenty of time for him. My marriage suffers because my daughter’s issues consume our lives. I could not tell you the last time my wife and I have had a date. It would be cool if the damn insurance company would just approve her specialist. My daughter may never be able to be on her own. This has changed her life. It has changed our lives.

The point of writing this is not for sympathy. It’s to say too other families dealing with chronic illness that I sort of get their lives now. I am slowly learning to appreciate where I am because it could absolutely get worse. Something is happening to our kids in this country. Autism, Mitochondrial disorders, ADHD, ADD. I sense something is affecting the genetic makeup of our children. I could not tell you if it is the water, genetically altered food, chemicals, pesticides, or all of these?

As I write this, my daughter is watching the “fab five” show why they won the gold in the Olympics. My daughter loved gymnastics, but is now too completely fatigued to take part anymore. Natalie was afraid to go tonight. She started crying, and did not want to get sick at the performance. Her mom and I made her go. Don’t give into the fear. “Dad, will I be ok?" “Yeah, you be will fine,” I answer back. Sometimes it’s OK to lie to your kids.

*For more information on dysautonomia, you can visit this website: http://curemito.org/dysautonomia

Excuse me, what did you say? Pt. 5

"The service being requested is denied." These five words enrage me.  This post should really be titled "I hate insurance companies" because I really, really do. Nice people, lame policies, and a bunch of crap...insurance companies.

I am so over fighting to get insurance approvals for Natalie's care. One thing I have learned for sure in all of this is that obtaining a diagnosis for conditions like this is a crazy difficult and getting medical coverage for things that sick people need is an absolute battle. It is unacceptable and change needs to happen with both our insurance companies and the approach to patient care in this country.

After the Thanksgiving 2010 episode when everything changed for Natalie, we went to the parade of doctors in an effort to figure out what the heck was wrong with her. We yielded to the process, doctor after doctor and basically got no where. As I stated in an earlier post, the doctors pretty much said we don't know what is wrong or what to do, so we will just do nothing for now and see how bad it really gets. There were no further referrals brought up. They gave up.

I believe part of the problem is the fact that the symptoms with this condition are pretty random, affecting different parts of the body,  so you find yourself going to a myriad of doctors with no real case manager to tie it all together. Everyone is thinking about their piece and ruling things out, but no one is looking at the bigger picture. And as I explained before, the doctors who are truly knowledgeable about this condition are few and far between.

Because of their inability to think outside the box or connect the dots, we were forced to take matters into our own hands. After doing massive amounts of research on the Internet, I finally came across an article on cyclic vomiting syndrome and realized that the author was describing Natalie perfectly. Of course, just as in every medical situation Natalie has ever had, her presentation was atypical of the cyclic vomiting syndrome cases her neurologist had seen so he wasn't 100% board with that diagnosis. He did put her on a medicine (that I hated) which did little to improve her situation but came with horrible side effects. He was satisfied with her progress, but we were not.

With no where else to turn in our medical plan, I did some further research and found a doctor at Children's Hospital of LA who specialized in cyclic vomiting syndrome. I sent this man a 5 page single spaced email detailing my daughter's journey and highlighting key issues she has had since infancy at 10:30 on a Saturday night. I received a response within 30 minutes saying he wanted her on his caseload. And so began our care from Dr. Boles.  With this expertise, he was able to diagnose her, educated us, and create a treatment plan in our first appointment which was about 4 hours long. He is the one who restored my daughter's confidence in doctors. He is the doctor who I can email at any time and have a response back within a couple of hours. He is also the person that educated us on the fact that Natalie's cyclic vomiting syndrome is but a symptom of the larger Mitochondrial issue. He has taught us so much and provided amazing support for us.

The problem is he is not covered by our insurance. When we went to see him, it was backed by referrals from both our primary care doctor and the genetics/metabolic doctor Natalie had within network. It's not like I was/am some psycho mom without justification for seeing this doctor. Our local doctors (including the only doctor in Sacramento who handles medical conditions like Natalie's and is highly reputable) lobbied on our behalf for months stating that we needed to have a doctor with more expertise. The request was denied and so began the insurance battle that has raged for over a year now.  We had to pay out of pocket for everything thus far, with the most significant cost being the $3000 for the initial appointment and all it entailed (dietitian, social worker, genetic counselor, doctor, genetic mapping, etc).

We have jumped through every hoop and followed every process like a darn circus tiger jumping through a fire hoop. The last denial required us to go and see a bay area doctor for a consult. In the denial, it CLEARLY stated if he said we should continue to see Dr. Boles, they would approve it. We did this August 6th and left this doctor's office with his recommendation that we continue with Dr. Boles AND an authorization request for genetic testing (which both her and Dr. Boles feel is vital). This doctor realized that Natalie needed a higher level of expertise than he could provide and also would benefit from continuity of care that had been established with Dr. Boles. Today, I received a denial AGAIN even though we got what was required. They also did not authorize the $4300.00 genetic testing that we got done and are currently awaiting results on.  Insurance commission, here I come.

I get so angry at the fact that we are actually asking for very little when it comes to seeing Dr. Boles from a money perspective. We see him twice a year  - everything else is done remotely via email/phone. This would not cost insurance more than $1,000/year. Of the gazillion things Natalie takes each day, only two of them are covered by insurance. The rest are out of pocket adding up to quite a bit of money each month.

My favorite item that came in our previous denial for coverage is a copy of an email between the medical director and case worker at the medical group. It was clearly placed in the envelope in error and shows how little they even cared to look at my daughter's case. It shows a five word description of her claim and a link to the file. The timestamps reveal that exactly one minute after the medical director received the emailed claim, he denied it. He didn't even look at her file. When the case manager questions him (one minute later) and makes sure he is aware of the doctors backing the request, he says to deny it once again. The best quote of the email exchange is "Deny and redirect. Let them fight it out with HealthNet". Pretty fantastic, no? Nothing says our kid is a number like that. 

If it wasn't for Dr. Boles, we wouldn't even have a diagnosis or treatment plan, and I guarantee you that insurance would be paying out a ton more for all of the hospital stays that would be taking place. He is the reason her situation has been able to be as good as it has been. I just want my kid to be given the proper care she needs and he does this for us.

Part of the problem again stems from the lack of awareness about Mitochondrial Disease. The insurance companies do not understand this condition and why such expertise is needed to manage it effectively. Families have challenges getting the genetic testing that will provide much needed information to assist doctors with treatment AND help determine if other family members (or future offspring) are likely to be affected. Because there are a limited number of doctors with true expertise, families often do have to venture out on their own providing a huge financial burden. Many have to travel out of state to see the doctors required.

And...the "mito cocktail" inclusions are expensive and are not covered by insurance. This all adds up for families, especially those that are less fortunate. There have been petitions urging Congress to include mitochondrial disorders and related supplements in important legislation mandating coverage of medical foods (supplements, enzymes, vitamins) for inborn errors of metabolism. In the petitions, the argument is made that they should be regarded as equal to, and covered to the same extent as, medications critical to life - such as insulin for diabetes. It doesn't appear that these petitions have been all that effective. The costs for families range, but the average is around $250/month for these items. 

While we need to make some changes to healthcare in general to address these insurance issues, really it boils down to the need for MORE AWARENESS.  It's pretty hard to argue your case when the person on the other end is like, "Mito what?  I have never heard of that." Spread the word people!

Excuse me, what did you say? Pt. 4

"Is God punishing me, mom? Did I do something bad?"
"I can't do this anymore."
"Am I going to die?"
"I need to go to the hospital."
"Don't cry mom. You do everything for me. You are doing your best mom. "

Oh, how her words can just pierce my heart. My daughter, Natalie, and I have had some of the most amazing, beautiful, gut-wrenching, and powerful conversations as a result of her condition. Even typing this out brings me to tears. It is hard to empower your child, when you feel powerless. It is difficult to speak encouragement into her heart, when you yourself are discouraged. It is tough to calm your child in the midst of a storm, when your own heart is racing (and breaking). It is impossible to try and explain God's ways when we don't really know the plans he has or the reasons behind them. But you do it. You do it all. Calmly. One breath at a time. Because, after all, you are the mom. Then, you go in the bathroom, let it all out, dry your eyes, and move forward. At least, that is what I do.

I am not afraid to cry in front of my kids. I think it is good for them to see their parents working through the emotions of life. But, when your child is struggling, you need to be strong and show them it's going to be okay.  When Natalie had the "mother of all episodes" in July, she was a mess. I had put her in the shower because sometimes it helps. She sat on the floor because she became to weak to stand, and just let all of the water run over her. I sat right there on the outside of the shower. She started to cry and ask me if she was going to die. I knew she wasn't, but the desperation and fear in her voice coupled with the question she asked, just broke me. I told her she wasn't and part way through my response I started to cry. She reached over and said, "Don't cry mom. You do everything for me. You are doing your best mom. You always do." I am pretty sure that made me cry harder because here she was, miserable and scared, and she was breathing life into me. What a gift. I love that kid.

Natalie is starting to speak more about her illness and all that comes with it. She is taking on more of an active role at the doctor's visits. She is just beginning to find her voice in all of this. I asked her if she would like to write a blog entry to share her perspective and take on a more active role in raising awareness.  Here is her entry below. I am so proud of her.

Hi, my name is Natalie and I am 9 ½ years old. I like sports, acting, spelling, and art. I love spending time with my friends. I also love my dogs, Elliot and Otis. Elliot is 5 years old and Otis is 1 year old. Otis is 80 pounds of puppy. My dogs make me laugh all the time. I love my Dad, my Mom, and my brother Kyle, too. They are very special to me.

This week is Mitochondrial Disease Awareness Week and that is important to me because I have that illness.  Mitochondrial Disease is where your mitochondria don’t produce as much energy as other people’s do. This makes it hard for your body to work right.

My problems started on Thanksgiving in 2010. We went to a 5k race and I got sick. I couldn’t stop throwing up. My mom and dad took me to the hospital where I stayed for a lot of days. After that, I started having problems with nausea and being tired all of the time. I had to go to lots of doctors and have lots of blood work. No one could figure out what was wrong. I had to go to the hospital two more times a couple of months later. I missed like 30 days of school and didn’t really get to see my friends very much. I felt sad and really wanted the doctors to figure out what I had. 

In the summer time, my mom was researching on the Internet and found this great doctor, Dr. Boles.  He knew most of the things about mitochondrial disease and he was the first doctor to understand what I was going through. He said I needed to take a “mito cocktail” which has L-carnitine, B-100, COQ10, and multi-vitamins. He also explained a plan for how I needed to eat, rest, and take care of myself. My mom took me to a therapist named Aubrey to help me with my fears about what I had and learn what helps me feel better when I was having nausea or other problems. I was really scared about throwing up in public so she put together a kit with Mentos, sour candies, a bag in case I needed to get sick. I picked out a special purse to put it all in that I carried all the time.  I felt like Aubrey knew everything because she told me how the brain works and tells messages to your body. She also told me that my brain doesn’t like when problems are going on in my body so it comes up with all of these ideas in my head. Then, I get scared about throwing up or other things. She helped me a lot and I still go to her when I need to every once in a while.

I started feeling a lot better and 3^rd grade was a pretty good year. I wasn’t missing much school and got to be with my friends. I wasn’t having nausea episodes, which was great.

At the end of the 3^rd grade, I started having episodes again. They were different because my head started hurting with them. I started having them many times a week. I had to go to the hospital on Friday, the 13^th because my head hurt really bad, I was shaky all over, I couldn’t stop throwing up, and I had shortness of breath.  I really was scared I was going to die.

We went in an ambulance and I had to stay at the hospital for nine days. I have been in the hospital lots of times before, but this was the longest. Dr. Boles said that the migraines and shortness of breath were symptoms of the mitochondrial disease. He said I was having new problems and more problems because my body is changing and working hard.  I had a new doctor I met too named Dr. Asaikar. Dr. Boles and Dr. Asaikar added new medicines to help me. I started taking magnesium, riboflavin, and a prescription. It took like a month to work. I still had episodes in July and had to stay inside mostly.

I also have some other symptoms. My right arm sometimes feels like there is an IV in it. My left arm hurts and feels tingly sometimes. My legs ache a lot. I feel weak all over my body, but sometimes just in my arms. I see spots and lines before I get headaches or when I have headaches. My skin gets mottled which looks all squiggly with purple blotches. I get really tired especially if I don’t go to bed on time. The heat makes my nausea and headache worse. My legs get tingly, too. I really don’t like it when my breathing feels weird. It scares me. My mom messages Dr. Boles sometimes when I am scared about my symptoms to find out why I am having them. I call Dr. Boles “Dr. Bulldozer” because he always bulldozes all my fears with his responses. He gets back to my mom fast.

School started on August 20^th, I have missed 4 days I think. My nausea and headaches were too bad to go. It makes me sad because I like school. I also don’t get to see my friends. When I am school, I stay in for recess and PE because it’s so hot and I have problems if I am out there too long.

I asked my mom last summer if I did something wrong and God was punishing me. I thought that I didn’t deserve this. I still think this sometimes, but not most of the time.  I saw the movie Soul Surfer. It inspired me because Bethany Hamilton was a surfer who got her arm taken off by a shark when she was 13 and I thought it was amazing because she didn’t say why did God do this to me. She said why did God choose me to be a leader for others.  It made me think I wanted to be just like her. She didn’t give up. She was relentless. She let God use her.  I got this verse from her. “I can do everything through Him that gives me strength. - Philippians 4:13”. When I have fears, my mom reminds me to be “Bethany Brave” and I think of this verse.

A really hard part of this for me is not having sleepovers with my friends because I just don’t feel good. I also get scared because I have a lot of new symptoms and every day is different. I don’t know what to expect or what is going to be bad or if I am going to have to go to the hospital.

I feel like people don’t understand what it is really like to have Mitochondrial Disease. People don’t understand how hard it is for me inside to handle all of this. I have a lot of emotions about it.

 A lot of doctors don’t know about it so it takes a long time to figure out that kids have this. We need to inform people about it and do things to teach them. We are trying to do a run in February to raise awareness and maybe even money to help find cures for it. It makes me sad that other kids have this, too. Some are even way worse.

I hope this helps you understand a little more about Mitochondrial Disease. Even though it’s hard, I learn things every day.

Excuse me, what did you say? Pt. 3

"This may be your new normal at least for the next few years." 

The new normal. That is a phrase that we throw around a lot here now. These words, originally received in an email from Natalie's specialist, came to us when we were on day 7 of our 9 day hospital stay in July.

I remember reading that and literally feeling all of the air leaving my body. What does he mean "this may be your new normal"? That we will be in the hospital like this all the time? And can we define a few years?

When we asked for clarification, the answer we received was "Everyone is different." In his vagueness, he was also at his most honest. In his bluntness, he was being real. I appreciate this. I also didn't know what to do with it. The reason for this "new normal" was the onset of puberty. It came with a bang and threw Natalie's body into a tailspin.

Keep in mind, that we were on day 6 of being in a hospital room with our daughter with ZERO improvement. She was not eating, was on a continuous IV, and we had to sit there 24 hours a day with the shade drawn, TV on the lowest volume possible, and no lights. She also could not sit upright for more than a couple minutes at a time without her headache or nausea spiking. She basically laid there all day.  So, when we heard "new normal", we were a little taken aback.  The reason for this "new normal" was the onset of puberty. It came with a bang and threw Natalie's body into a tailspin.

When the nausea and fatigue started almost a couple of years ago, it was rough. In second grade, she missed a ton of school. After we started working with Dr. Boles, everything changed and our daughter got her life back. We started her on the "mito cocktail" of vitamins, enzymes, and supplements. This combined with keeping a good sleep schedule and diet had her doing so well. We also had hooked her up with a fantastic therapist who has a doctorate and specializes in children with chronic medical conditions. She was/is A-MAZ-ING and helped Natalie work through all of the fears and feelings that came with her condition. If a situation arose, we knew how to handle it. She barely missed school and third grade was great until the very end. Toward the end, Natalie had the first episode of cyclic vomiting after almost 7 months. At first, we thought it was a fluke. But then, more problems started to come. She had a couple more episodes in the beginning of June, but with them came migraine type headaches which she had never previously had. We were able to resolve them at home and started to discuss this with Dr. Boles. Then came July when everything changed. The "new normal" began and culminated in the "mother of all episodes" which resulted in her being transported to the ER and admitted for 9 days.

Since discharge, she has been on a new medicine to keep her episodes under control (which took a month to kick all the way in) and was provided with migraine medicines which we refer to as "the big guns" (for use when we can't get ahead of the headache with Tylenol/Motrin). She also has been a big ol' mess of random symptoms. She has still had migraines, but we have been able to get them under control with either the Tylenol/Motrin/Zofran combo or "the big guns'.  Before and during the migraines, she sees all different kind of spots and lines. She also has had rapid onset of skin mottling, tingling and/or weakness in her limbs, and overall shakiness. With one of the migraines, one arm went numb in the elbow area, while the other arm felt as if IV fluid similar to saline was flowing through it. She has had joint and limb pain. Another major new symptom is a shallow breathing issue which does not present any danger, but scares the heck out of her. She also has had a tremendous amount of fatigue missing one day of school per week (except for the one week we made it all the way through!) and having to pretty much rest up on the weekends. The heat has been horrible for her and takes way too much of a toll on her body so she has been spending recesses inside and forgoing PE for right now.

Our biggest challenge currently is playing "beat the clock" each time a migraine episode comes on so we don't end up back at the hospital AND trying to learn how to navigate with this "new normal" that is unclear, unpredictable, and frankly, all over the place. Mitochondrial Disease can affect any part of your body and new symptoms are popping up with her constantly. It is so difficult to know when a new issue is cause for concern or not. We are learning as we go, and having to ask a lot of questions. Praise God for Dr. Boles. For Real. He is a gift.

We do not make plans. We have ideas. We have learned that we really do have to live moment by moment, and just remember to breathe. We thank God for our daughter and all we are learning from this. I know God has a plan, but I have to admit that I regularly ask him to re-evaluate this particular plan. After all, it is definitely not my favorite.

Natalie's biggest challenge is trying to adapt to the reality that no two days are ever the same with her body, and that her internal situation can change without warning. Most of her symptoms are benign, but that doesn't mean they aren't scary or limiting. Her body regularly betrays her, as she has to miss out on many events and activities she would like to be a part of. She's understandably frustrated and scared.

Tonight was one of those bummer nights for her. She missed school today because she is fighting a cold virus, which for her means her body has been haywire for days. She, for the 5th day in a row, started seeing the spots and lines and had an elevated headache. When it was clear  that the headache and nausea were rapidly rising this evening, we pulled out the "big guns". Even with those on board, her nausea was unbearable and the headache was not any better. She had to lay very still in order to prevent the headache and nausea from rising any further. After about an hour and a half of this, she fell asleep. Her other random special symptom of the day was a feeling of tightness in her fingers and toes. I don't know what that was all about, but then again, I rarely do.

We are hoping that as the heat subsides, things will improve somewhat. But as that comes, so does cold and flu season, which brings a whole new set of issues. This kid + illness = BIG HOT MESS. According to her local neurologist, our goal is simply to "stay out of the hospital". So far, we are succeeding. Dr. Boles has made it very clear that we don't really know how many hospital stays we will be facing over the next few years. I think it would be swell if it was zero. I know that is not likely, but a girl can hope.

Excuse me, what did you say ? Pt. 2

When people say Mitochondrial Disease is hard to diagnose. They aren't kidding. It takes years for people to finally obtain a diagnosis. The primary reason seems to be the way the condition manifests itself. Patients have random, seemingly unrelated symptoms and/or conditions. They see a variety of doctors, each specialist treating the symptom that falls under  his or her purview. There is nothing and no one to tie it all together. "Mito" docs are not common place and other doctors simply are not aware of the patterns they are looking for.  The challenges that patients and their families go through along the road to diagnosis are frustrating to say the least.

I still find it fascinating that my kid has Mitochondrial Disease. Her diagnosis, while it makes sense, comes after such a journey through all kinds of randomness and drama. Her body has never responded normally to things. We have always said that our kid does not do sick, tired, or hungry well. Now, we know why. She also has never been one to just get what the others do. Her strep throat became scarlet fever. The routine measles vaccination evolved into the full blown measles with a 103.7 temperature. As an infant, she had full on projectile vomiting every day until she was 8 months old. We used to play "pass the baby" in the evenings when friends were over because you just never knew when it was coming out. Shortly before her first birthday, she was transported to the hospital with febrile seizures (the kind where your baby turns blue, eyes roll back, and the whole "shebang"). About 2 months later, she was admitted to Sutter Memorial when her body could not recover from a stomach virus. When she was 3, she began having flu like episodes that were atypical.  She would be throwing up, have a rapid pulse, be shaky, and lethargic. Then, it would resolve. After the third time, Mike and I were quite confident that this was more than the flu and requested labs when it happened again one morning. This time, it didn't resolve and ended up resulting in a 9-1-1 call when she became non-responsive. It was this admittance that she was diagnosed with ketotic hypoglycemia, a condition where her blood sugar drops rapidly with periods of fasting or overexertion. This situation is often exacerbated with illness. From ages 3-7, we visited Sutter fairly regularly each year as she would have episodes of vomiting accompanied by significant blood sugar drops.

Around 7 1/2, her blood sugar issues started to go away, and we thought we were in the clear. She was growing out of the problem! Little did we know, that beginning in November only a few months later, things would change dramatically. 

Natalie went into the hospital in Thanksgiving 2010  for uncontrolled vomiting and things have never been the same. It was at this time that Natalie started experiencing unbearable episodes of nausea and tremendous fatigue. She was missing school constantly and often times was incapacitated in bed due to the extreme nature of the nausea. In December, our journey through the parade of doctors began. And, really this is where things got really difficult.

As we went from doctor to doctor (at one time, she had at least 6 active doctors), we heard so many things and walked away with no answers. She had test after test to rule out things. There was a discussion of the possibility of a brain tumor or leukemia. Her lab results were often atypical, but nothing added up.

More than one doctor said things to us like...

"I don't know what to tell you. There is no condition that includes her mix of symptoms."
"I think she may have an anxiety problem and this is how it is manifesting itself."
"Maybe she needs to play outside more and distract herself."
"Her exam looks normal to me. I don't know."
"I don't know what to tell you. I am out of ideas."

And when she had only slightly improved on a medicine and we wanted to see a specialist, we heard, "I am happy to hear how well she is doing. Only if she reverses course would we need to proceed down another route."

"Excuse me, but what did you say?" was pretty much a staple in my vocabulary. All I could think was...

How can someone say there is no such thing as this mix of symptoms when you live watching it every single day? Do you want to come to my house? Come and watch. You tell me it is anxiety or in her head...

Who are these people, that they get to just give up because they are out of ideas? What happened to patient advocacy and the commitment to excellent patient care? Just because you don't know, doesn't mean you don't exhaust your resources. Now, I want to be clear here. I know there are much worse situations. There are children who have cancer and other terminal conditions which are unbearable to even think about. My heart breaks for those kids and their families every day. But, with that said, just because your child isn't dying, doesn't mean they are living. And my kid, my daughter, was dying inside, begging for answers and giving up was not an option. We flat out refused to do so.

And while no one came right out and asked, there were also interactions with doctors where it was clear that they thought we/I was over-dramatizing or wanted something to be wrong with her. It reminded me of those "Munchausen by Proxy" accusations or insinuations against parents. I can remember telling one doctor, "Let's be clear here. I don't want something to be wrong with my daughter. There is something wrong. I want to know what that something is. Any parent would."

I have found this is not uncommon with patients who are eventually diagnosed with cyclic vomiting syndrome and/or mitochondrial disease. She has both - the cyclic vomiting is one of the manifestations of the mitochondrial disease. People treat them like they are nuts.  Simply because they really do not understand.

Let me tell you, there is NOTHING worse than watching your child literally struggle day after day and then having doctors imply or flat out say that they think it is in her head (or your head). Having to defend your child while trying to get her the care she needs when she is barely functioning is horrific.

And, sadly it really is not just limited to the doctors. These conditions are so unpredictable and symptoms literally can change day to day, hour to hour, or frankly, moment to moment. People don't understand. I frankly don't even understand, but I live it. It is hard when even people you care about imply that your kid is manipulating you or say things like, "Well, she looks fine to me" and "Every time I see her, she is great. It seems like she can rally when she wants to". Those times are often but a snapshot taken between what it took to get her there, and what price she will pay for overexerting when she leaves. But, I get it and I get why people don't get it.

After going outside our network and seeing Dr. Boles at Children's Hospital, a doctor who specializes in cyclic vomiting syndrome (and "Mito"), we finally had our diagnosis. I thought she just had this thing called cyclic vomiting syndrome, but apparently it came with this whole big Mitochondrial issue which is why we have such an issue with fatigue. In this appointment with Dr. Boles, we finally had someone who could explain what she has, tie all of the random together, and educate us on aspects of her health and history that all related to this one root issue. He also had a treatment plan and the support available that we so need. And, the best part was, he didn't think any of us were crazy or exaggerating or anxiety ridden messes. In fact, after talking to him, I think we had no idea how much understating we had been doing.

There are kids - Really, really sick kids. Kids with random issues that all add up into one big mess. And no one is tying it all together. They could be getting treatment which could make their life so much better. They could be being diagnosed before years and years of struggle go by, before their situation becomes more severe, and before they develop panic or anxiety issues because of the unpredictability and limitations that come with the symptoms.

There are kids with "mito" who are far worse off than my daughter. I read about them all the time,  praying for them and their families, while I thank God, that as hard as our situation is, it is not like theirs. I also pray it never will be. We have no clue how Natalie's story will play out. In the words of Dr. Boles, no two situations are the same so it is hard to predict.

There are kids,who die from this condition like Colin (http://curemito.org/childrens-stories/colins-story) and all of the kids listed on this site http://www.mitoaction.org/light-light-mito

There needs to be more awareness, more education, more research funds, and well, a cure.

Excuse me, what did you say? Pt. 1

 

My goal is to blog every day this week in honor of Mitochondrial Awareness Week. Given that I have obvious challenges with posting on a regular basis, we will see how it goes. It isn't that I don't typically have things to say. I always have something to say, especially about topics that are important to me such as this one. It is just finding the time, as well as the courage and strength to commit my thoughts to written form often stands in my way. It's hard putting yourself on paper. It makes things far more real and raw than when they swirl around in your head.

Mitochondrial Disease Awareness Week may not be a big deal to you. After all, it seems like it is always awareness week for something. There are ribbons of every color to represent all types of conditions. This condition, Mitochondrial Disease is a HUGE deal to me. It has affected my life deeply. It has allowed me to grow in ways I didn't know I needed to, and frankly didn't want to. It has permeated my family's life in every way. It has battled for my daughter and some days, I think it really is winning. And I think, if it is winning, then what all is my kid losing?

"Excuse me, what did you say? She has what? Did you say mitochondria? Wait, I remember something about that...was it in biology? It's in the cell, right? Wow, I should have paid closer attention in that class. This is way, way, way over my head."

Since that day, it has become abundantly clear, that I am not alone in my ignorance on this topic. It appears that Mitochondrial Disease is something even very few physicians are well versed in. This reality makes obtaining a diagnosis and necessary treatment beyond difficult. As the parents of a "Mito kid", we had no choice but to become "experts" in this condition, and often find ourselves educating the EMT/Paramedics, nurses, and physicians that are called on to treat our daughter. Ignorance is rampant, knowledge and awareness are vital.  So, today let's just start with some facts.
 

 What are Mitochondria?

• Mitochondria are tiny organelles found in almost every cell in the body.
• They are known as the "powerhouse of the cell."
• They are responsible for creating more than 90% of cellular energy.
• They are necessary in the body to sustain life and support growth.
• Mitochondria combine oxygen from the air we breathe with calories from food to produce energy.
• Mitochondrial failure causes cell injury that leads to cell death. When multiple organ cells die there is organ failure.

What is Mitochondrial Disease?

• Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function.
• Mitochondrial disease presents very differently from individual to individual.

What are the Symptoms of Mitochondrial Disease?

The severity of mitochondrial disease symptoms is different from person to person. The most common symptoms are:

• Poor Growth
• Loss of muscle coordination, muscle weakness
• Neurological problems, seizures
• Autism, autistic spectrum, autistic-like features
• Visual and/or hearing problems
• Developmental delays, learning disabilities
• Heart, liver or kidney disease
• Gastrointestinal disorders, severe constipation
• Diabetes
• Increased risk of infection
• Thyroid and/or adrenal dysfunction
• Autonomic dysfunction
• Neuropsychological changes characterized by confusion, disorientation and memory loss.

How is Mitochondrial Disease Treated?

• Treatment consists of vitamin therapy and conserving energy.
• The goal is to improve symptoms and slow progression of the disease.
• Conserve energy
• Pace activities
• Maintain an ambient environmental temperature
• Avoid exposure to illness
• Ensure adequate nutrition and hydration

How common are mitochondrial diseases?

• About one in 4,000 children in the United States will develop mitochondrial disease by the age of 10 years.
• One thousand to 4,000 children per year in the United Sates are born with a type of mitochondrial disease.

What are the Challenges of living with Mitochondrial Disease?

• Affects multiple organs, affects multiple family members, affects multiple generations.
• Lack of awareness and understanding of the disease
• Families are continuously forces to expend their very limited energy to explain their disease, advocate for themselves and fight for services.
• Mitochondrial disease is often an " invisible disease."
  • Good day - patients look fine and healthy. They have more energy and appear rested.
  • Bad day - - patients appear tired to significantly ill. They are obviously fatigued and/or have significant illness. Repeated "bad days"often lead to decompensation and patients have difficulty returning to baseline.
• Mitochondrial disease is unpredictable. Day to day, hour to hour patients can develop symptoms and their stability can be threatened.
• Difficulties establishing a diagnosis interfere with a patient's ability to obtain adequate recognition, medical care, adequate insurance coverage, healthcare supports and disability services.
• Lack of understanding of the disease and misinterpretation of symptoms can lead to misdiagnosis. Further progression of symptoms can occur if the symptoms are missed and opportunities for treatment and support are not recognized.
• An individual can become symptomatic at any time in life despite the fact that it is inherited.
• It is difficult to diagnose.

What is the Prognosis for Someone?

• The prognosis is variable. Some people live a normal life and are minimally affected, others can be severely compromised with the disease.
• It is completely individualized.
• The prognosis is unpredictable.

 There is no cure at this time.

 "About Mitochondrial Disease-MITO FAQ". Retrieved from www.mitoaction.org