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.