Sunday, August 1, 2010

Knowledge is Power

Knowledge is power.

I really do believe that.

However, in the months since Clara's diagnosis, I have been living somewhere else.


...and I don't mean the river. (Sorry. Jeff humor.)

To be honest, I didn't realize that's where I have been living until this weekend.

Sure, I am aware of the seriousness of Clara's disease. I have tried to be very proactive in taking care of her. Not perfect, by any stretch, but I have done my best. But this weekend, it was all right in front of me. The very dark side of mitochondrial disease.

When I look at Clara, I do not see a disease. I do not see sickness. I see a sass-a-frass of a cutie that makes my heart skip a beat every time she walks into the room. I see a smart little charmer who can work her way into the coldest of hearts...I've seen it happen. I see the little miracle that we never thought I would even carry, let alone birth and fall absolutely in love with. I see a little girl who loves to play dress-up, do ballet with Bella Dancerella, read books together, color, and ask me what every single thing we see 'starts' with. I see sweet, funny, charming, strong in personality and will, and so much more. Sure, she gets tired easily, she cannot tolerate heat, and we have to be so very careful of the way we schedule her activities, because in many ways, she is fragile. But those are just not the things I want to define my little girl.

However, two weeks ago, it all came crashing down (literally). Clara had a big crash. Not the kind of crash you have when you hit a wall or fall down the stairs, but a metabolic crash. I have heard of them and know people whose children have experienced them, but it had never been Clara. She had experienced some minor crashes that were fixed with Gatorade and rest...but this one took the cake. I don't know when I have ever been so scared for one of my children.

As always, though, God worked that crash for our good. We realized some important things as a result:

1. We still do not understand what we are dealing with.

2. Clara does not have a mito doctor-and she desperately needs one.

Please do not misunderstand me. Up to this point, we have worked with some wonderful primary doctors, specialists, and sub-specialists. As a matter of fact, I think we have worked with some of the best there are. Our needs have just changed. In the midst of that crash we did not have a doctor that understood mito to tell us what to do, and that was a lonely, scary place to be.
That leads me to this past weekend. I knew I needed more knowledge, and once again, Mito-Mom lead the way. She is part of an FOD support group that sponsored a conference Friday and Saturday that was hosted by Emory University School of Medicine, Department of Human Genetics. While I will not bore you with all the details (unless you really want to know, and you ask for them), but I really want to share some of the high points.

What is FOD, you might ask?

Well, it stands for Fatty-acid Oxidation Disorder, and it is estimated that 30-40% of mito kids are affected. The way one of the specialists explained it is that the group of enzymes that contains the respiratory chain where the mitochondrial disease is, and the group of fatty acids where the FOD occurs, touch. Think of it as two houses of cards stacked right beside each other. If you take a card out of one of the houses and it crashes, it makes the one beside it crash with it. So, while it is not necessarily a second disease for mito kids, they can be affected with many of the same symptoms. Mitochondrial disease and FOD are both metabolic disorders, and while mitochondrial diseases are still considered rare (although there are as many people affected with them as there are people affected with cystic fibrosis), FODs are even more rare, and while there are many different types, there is still so little they know about them. This conference was a national conference and there were some VERY well-known doctors there; many of them were mitochondrial disease experts, and almost all of them were metabolic disorder specialists. If you have followed our story at all, you know we have not encountered many of those. Actually, there aren't that many to encounter. That made it extra cool to be in a place where there was a concentration of them. They all presented some great information, and even better, they were so very approachable and more than willing to answer questions between sessions. They usually sat with us at meals, too. In large part, they do what they do for the patients, as they are not paid very well because they do not have a "popular" specialty. But they have a passion for those affected and their families. Love that.

Here are the high points of my weekend:

*Being with Mito-Mom for two whole days...even in the car...and getting to ask her anything I wanted! Her 18 year-old delight-of-a-daughter came with us, too, and we had a BALL!!

*Meeting some really great, compassionate doctors who understand Clara's disease, at least as much as it can be understood at this point.

*Meeting some other Moms/Families that are dealing with the same issues we are.

*Meeting the representatives for a few of the foundations set up to help these children, and getting some very practical information about things like handling crashes, preventing crashes, ordering wheelchairs, filling out paperwork, and what to say to the ER doctors when you walk in. You think we don't know much about mito? Think about those poor, unsuspecting ER doctors that have to know so much about everything...but this disease is usually not one of them.

*Last, but certainly not least, WE FOUND A MITO DOCTOR FOR CLARA!!!!! This mito specialist used to work with Dr. Schoffner, the neurogeneticist that did Clara's biopsy. She has now started her own practice and is seeing patients. (Dr. Schoffner does not see patients. He is strictly a diagnostician and researcher.) I actually sat beside her in one of our break-out sessions. Honestly, I was too choked up while everyone was talking to say anything, so I just listened. But when it was over, I introduced myself to her and told her a little about Clara and our situation. I told her about "the crash" and she said, "Without a doubt, she should have been hospitalized". (I actually heard that from 3 of the mito specialists that were there when I told them about Clara. If you remember, Mito-Mom told me the same thing, but how do you run a kid to the ER without a doctor to call for support who understands why she is there? Hind-sight is 20/20). She told me that she would be honored to be Clara's doctor and to call her office and make an appointment. She is scheduling for September right now, but in a way, that is good. It will give us time to save up the money, as she does not take insurance. She will give us the forms to file for reimbursement. That is another story for another day, but I will leave it at: I understand why she does that, and it's okay. :-)

There were some very hard parts, aside from trying to understand all the charts, "pathways", and really big words. (Keep in mind...I was a MUSIC major. They don't teach you this stuff in Music School.) :-)

*While it was so great to learn so much, it was hard to learn so much. For example, I learned that a crash can cause many things including, but not limited to, sudden death, kidney failure, liver damage, brain damage...the list goes on.

*I saw a very dark side of these diseases. I saw the feeding tubes and wheelchairs, and met some of these precious children who are suffering much worse than Clara. I met the Moms who are changing the diapers of their 9 year-old children, and a number of Moms who have already lost their children. I saw what could be to come...although we are praying against it in a HUGE way! I met one very beautiful girl who had lead a very healthy life for 19 years, and then one day, while being a counselor at a camp for disabled children, she crashed. She had to be revived and woke up in the hospital with Mito/FOD. She now has a feeding tube, IV port, and spends a great deal of time in a wheelchair. I met another sweet baby who is suffering with a whole list of symptoms who cannot get a diagnosis (yet),....and the list goes on. See why I was too choked up to talk?

*As is usually the case, I am even more aware, now, of how much I still do not know or understand. Right now, my temptation is to beat myself up for the mistakes I have already made, but I know I can't go there. I have to pray for grace and mercy from a kind and compassionate Heavenly Father who loves my sweet girl more than I do (as hard as that is to fathom).

Overall, a good weekend. It was a lot to take in, like drinking from a fire hydrant, and I left with a headache, but I could not have asked for a better experience. Emory took very good care of us. Did you know the Emory Hotel and Conference Center has a bowling alley in it? A pretty one, at that. Who knew?? I only wish I had taken some molecular biology. Maybe I could have understood a little more of that language those doctors were speaking. :-)

Once again, thank you for your prayers. Please continue to pray for us this week as we prepare to go to Michigan next Saturday for Staff Revival Week. Pray that Clara will handle the trip well (that is usually a hard thing for her). She is not quite 100% from her crash, so we are praying she will bounce back all the way before we leave. Also, please pray that we get all of our newsletters done before we leave so we can mail them from MI.

Much love,

1 comment:

  1. Jeannie, I so appreciate your willingness to put your heart and mind out there for us to learn and pray. It would probably help all those close to Clara to know a little more about her and understand her so that we too can be aware if something seems out of sorts with her and know to get you! I am so thankful you found a doctor and many, many wonderful people who can become your system of support and information! Praise the Lord for the timing of this conference, for mito mom and for a host of drs and new knowledge!
    Regardless of a diagnosis, God knit Clara in your womb and she is wonderfully made. Hold on to that promise! God will be glorified through his wonderful creation!
    Love you guys very much!