Tuesday, December 14, 2010

Metabolic Geneticist and Mitochondrial Disorder.

We saw our Metabolic Geneticist today.

Kendall screamed and cried the entire time. Probably because right when we pulled up to the office, she had a huge dirty diaper and her poor bottom was raw.

When Kendall cries during an appointment, I have to pull her out of her chair and hold her. She's gained weight since getting off the Ketogenic Diet. A lot. When holding her, her feet almost go to my knees. She's big, she's heavy, and when she's upset, the arching and twisting make it even harder to hold her. She was sweating and having muscle spasms, and so was I.

I'm not a scientist, or a Dr. I don't remember anything from high school about cells. At all. This is all just way over my head.

Our Metabolic Geneticist is an MD and a PhD. She is very soft spoken. I've liked her since the second I met her a year ago in the hospital. I don't like all of our Dr.'s but I really do like her. She's very thorough. She listens, she reviews everything and doesn't jump to conclusions.

A year ago, she was the one who did not want the muscle biopsy. We did it anyway. She reviewed the results with the other Geneticists in her office. Yes, her Succinate cytochrome c reductase was low. It was a 31, and normal is in the 50's. That means her Mitochondria isn't working correctly. That was the only thing abnormal. In order to fully understand this, a coenzyme q10 analysis was recommended by the lab. They don't have enough of a specimen left to do that. Kendall would need another muscle biopsy. More blood work could be ordered to get more specific information on the rest of it. She was willing to do whatever I wanted.

That's when I snapped. Literally snapped. I think I scared the poor woman. I have had enough. No more testing. No more answers to tests that I don't understand. No more searching for Dr.'s who can "specialize" in my daughter to further their research. I'm finished. I've lost my desire to change the world. My primary care is Kendall. That's my focus. That's the reason I get up everyday, to be a mom to my kids. To make sure they are happy and as healthy as they can possibly be. That's it. I don't have the energy to do any more than that.

Since there's nowhere for this road to lead, except labels and more tests. I'm opting out. If there were cures and medication proven to slow progression and improve quality of life, I would consider it. But there aren't. So I'm all finished.

She stopped the appointment and calmly told me that she agreed with me. She feels the same way. Kendall's file isn't going anywhere. If I'm not searching for answers, there's really no sense in putting her through all the testing. If something else comes up down the road, we can revisit it and order the tests. Then she said something I've been thinking about all day. She said one of the men in the lab had told her ordering tests is "kinda like picking your nose in public." Basically, you'd better know what you're going to do with it when you get what you're looking for. You'd better have a plan.

There isn't a plan. There isn't anything that can change my daughter's genetic makeup. Nothing. So, I'm choosing to live my life now. Without regrets. I don't care if I have a name for what she has, or a reason. CDKL5, Mitochondrial Disease complex 2 or 3... Truth is, she's Kendall. She's always been special. She always will be.

The statement above is a very easy thing for someone to say who isn't living this life or dealing with these issues on a daily basis. It is probably something I would have said to someone if I were an outsider looking in on a family facing these decisions...but the truth is, everyone is different. Getting me to this point has been a process. But it works for me. I might change my mind later a year or two down the road, and she said if I do, we'll pick up where we left off.

I did the best I could today following up on the results, but I don't feel any different. If I could change anything in this whole process, I wouldn't have done the muscle biopsy in the first place.

So no more testing. No more nose picking. I'm all finished.


Holly said...

"I'm choosing to live my life now"

I'm proud of you :-)

The Gray Family Sends Our Love

Jennifer said...

Making that choice for no more testing is tough. But you're right. The labels don't matter. None of them do. She's Kendall, and she'll be the most magnificent Kendall no matter what. What a strong mom you are!

ANewKindOfPerfect said...

We are in the SAME boat here. We have decided on no more nose picking at all, unless it's non-invasive. I do not allow blood draws even for new disorders or "Oh I just thought about this, we should definitely test for it". If she is going for her every 6 month metabolic labs, then we can draw for whatever that is. But we are NOT doing blood draws, spinal taps, another muscle or skin biopsies, nothing.

As you said, it doesn't matter anymore. Emily is Emily just like Kendall is Kendall. I think you are a brilliant Mom for coming to terms with this!

Bronx Cataldo's said...

You know even having a name for what Kendall has will always have questions sometimes not knowing is the best. We have been thrown on the rule out wagon again but only because Finnian's heart rate and his O2 is involved. I know it will come back neurological in nature thats basically what the cardiologist said today so did the pulmo last week. Finnian is almost 6 and they now mention Mito well you know its not going to change him he is Finnian plain and simple.
Live life for today and worry about tomorrow when tomorrow comes.

Lorrie said...

Go Jocie!

I'm proud of you. I did the same thing years ago. You're right. None of it matters.

Love you guys :)

MrsFought said...

Totally agree!!! We are choosing to live now as well!!!!

Thanks for posting!!!

Karen Owens said...

That's awesome! That's what we did with our son and it allowed us to live an amazing life!!! Answers lead to more questions and sometimes it works out but other times it just causes more stress.

Your thought might change -- and that's cool. Mine never did and I can proudly say I don't take back any of the difficult descisions we made thorughout our little boy's life.

I've just entered the world fo hard to hold children -- i feel you pain a little bit. Sh eis only 22lbs but man when she gets going -- she get's GOING and leaves me with sore muscles and makeup running everywhere!

Anonymous said...

Good for you! And the rest of your family, too!

Would Kendall's PT be willing to spend some time problem-solving for 1 or 2 'holds' when she is upset - holds that are not so difficult for you? Barbara

Caroline said...

Phew! Good decision. I made a similar one about a year ago, but on Wednesday gave the nod for the next stage of testing. Previously I wasn't sure what I'd do with that bogey... And was very scared of what I might hear, but now, with Hope doing so well, her doctor and I hope that we may be able to rule out some of the mitochondrial disorders that frighten 'me the most.
She's looking even more gorgeous!!!
Much love

Cjengo said...

I did this when I was pregnant with Jude. There were so many tests, and no final answers. It was always "He may be normal and he may not". On the final request for another in utero MRI I said NO! We will love him regardless, and I am DONE. So I get it!!!!!!!!! Good for you!!!!