Wednesday, September 12, 2012

Day Three...Information Overload

Hi Everyone!

Today has been a big day with lots of information, and I am eager to share it all. Before I do, I wanted to clarify something from yesterday. When I said something happened that made me angry, it had nothing to do with Clara's medical team. Her doctors and her nurses have been wonderful. Even the urine fiasco didn't really make me angry. I was bummed that we missed an hour of sleep for nothing, and that her testing was messed up, but somehow I was able to pretty much overlook that. It wasn't her main nurse involved, and I know nurses have a lot on them. Granted, the helpers should be a little more thorough, and I'm not even sure the two that messed up her urine were actual nurses, and ultimately, we were not directly affected. The episode to which I was referring was one I don't wish to re-hash. I will just say that it involved some very inconsiderate people and Clara was in no way involved...she was oblivious. Ultimately I just keep praying for a humble heart and a gentle spirit so that none of the other even matters. A good night's sleep probably wouldn't hurt either....

As for today...we met with  Clara's team of specialists around lunchtime. (Yes, Clara's food was messed with, once again.) :-) Overall, they say Clara looks very good and healthy. That is a big praise! Her renal ultrasound came out calcium deposits. Woo-hoo!! Her x-rays look good...bones look much better than they did compared to previous x-rays. They are reducing her dosage of her medications just a little, for the simple reason that Dr. Whyte likes to operate on the safe side of things than have to deal with other consequences from too much medication later. Furthermore, they are changing our method. So instead of having to mix a powder with water 6 times per day, she will now take a capsule or tablet 4 1/2 times per day. That just feels much more manageable to me. When a kid is only awake for twelve hours a day, it is hard to get in 6 doeses of medication. This team of doctors will now be in charge of Clara's care, which means, no more trips to the U of M, but one big trip to the Shriners Hospital every year. We will also have to have blood drawn and a urine specimen taken to be mailed to Shriners every three months. The hard part is going to be getting the lab on board. Basically, they don't want the lab to do any testing. They have the lab draw the specimens, spin, freeze, and whatever else needs to be done to them, and then mail them here to this hospital where they will do the testing.

Clara will have hypophosphatemic rickets for the rest of her life. There is a 50/50 chance that her children will get it, too. She will only be dealing with the consequences of it in her own body until about a year after menses, though, and who knows? Maybe the research we have taken part in here at Shriners this week will help her future children if they, too, deal with the same disease. We are still unsure where Clara's came from. They will be drawing blood from me tomorrow to see if I am a carrier, and they said that they may want to test her sisters, as well. There is also one more genetic test (about the only one she hasn't had) to know, once and for all, if hers is a sporadic case, or if it was handed down to her.

The long term affects are also unknown at this point. Up until now, you were almost guaranteed a knee and/or hip replacement in your adult life if you had hypophosphatemic rickets. However, there has been no study done, yet, that follows up with the adults who have been treated the way Clara has. This Shriners hospital is the only facility anywhere that studies XLH the way it is being studied here. The study has been running for almost 30 years, and they are just about to start trying to follow up with the people they treated 30 years ago. They want to know if the outcome is the same if you were treated for the rickets, versus never having had any treatment. I think the only thing stopping them at this point is funding. The only thing they will say for Clara's future is that she will be short, but not a dwarf. Everything else is unknown at this time.

This is Clara, right before going in to meet with the doctors.

It does feel like there is some finality finally coming to our search for help for Clara. This has been 5 1/2 long years of doctors, hospitals, and tests. We don't have all the answers, but I think we almost have as many as we are going to get...I think I will just have to live with that. Everyday, I am feeling a little more peace about the whole situation. The biggest question that still remains is, "What about the mitochondrial disease?" That is a question to which we may never have an answer, at least until more research is done and more genes are sequenced. Right now they have Clara's testing classified as "inconclusive", which I think will line up with the way Dr. Kendall, her geneticist in Atlanta, has felt all along. The geneticist told us this morning that what is there, is a mild case. That is a good thing.

As far as Clara's pain is concerned, they don't have any real answers except, "That's just rickets." They do want us to meet with the rheumatologist here to possibly figure out some ways to help her. The biggest thing that doesn't make sense to me is: If her rickets is getting better, why is her pain level increasing? I asked that question, and they don't know.

At this point, my brain hurts. I feel like I have been holding onto this information for so long, and I am tired. Maybe with this new information and new care team for Clara, I can just let it go for a while. Some of our sweet Michigan friends have been sending the sweetest notes this week, (They timed it so we would get one every day...isn't that precious?) and today, the one Clara received had a place to list all the things that make her happy. One of her answers was, "Having a hospital that takes good care of me." I think one of the reasons she has been such a sport about the 24 hour urine tests and the special diet is because she understands that the doctors here need this information to help her legs not hurt. She has basically said that to me in so many words. This girl just takes my breath away. Such a jewel.

Some of you have asked how Jeff and the girls are doing. I haven't been able to talk to him much, but they seem to be doing really well. When I talked to Jeff this afternoon after the meeting, he sounded as tired as I always feel, but I think he's done a great job with the girls. Their school work is getting done, they're eating (They've had a little help from friends in that thankful), and they all seem pretty happy. If you think about it, please pray for him tomorrow, as he will be taking the girls to co-op by himself. Last week was my first week and I was toast when I got home. I think we will all be glad to get back together. Clara told me today that she is missing her sisters. Two more days!

I would also like to thank everyone for your notes and messages via e-mail and Facebook. I am reading them all....and love them!! I just haven't had the time to respond to them all. Please know I am getting them, though. They have been such an encouragement to me. They help me not feel quite so alone in this great, big place. :-)

There was something really funny I wanted to share with you, but since this post is already so long, I'll wait until tomorrow. I am not sure what is on tap for tomorrow, aside from my fasting blood test in the morning, but Friday will be another very busy day of meeting with doctors and heading home!
And just for fun, some pictures of Clara in the RT room...her favorite place!
She has lived at the air hockey table!
She has thoroughly enjoyed the crafts, as well.

Thank you for your love and prayers.

Much Love,

1 comment:

  1. Hi Jeannie,
    I am So thankful I made the effort to link to your blog. I feel so close to you as I read through your thoughts, feelings, and frustrations. Thankful we are friends and that girls can be friends too. I can relate to you about wanting to know everything about Clara. When our child was born w Trisomy 18 we were the same way. So glad you are getting answers, a new more manageable med regimen, yet more importantly, some PEACE! I can sense God's presence through your writings! Love you! Jeff did look tired tonigh when picking up the kids from Club 252. I am certain you girls are missed! Hope you got some well needed sleep! Take care! Praying for you and Clara. Love Jenny