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.