We actually left for Ann Arbor on Thursday night. It is exhausting trying to do all that driving and an important, very long doctor's visit in one day. Our friends, Mike and Leigh Ann, took great care of Emilie and Megan, and my angel friend took Lucy (and had a ball!). We let Alyssa go with us. The last few months have been very trying for her as she has tried to learn how to get along with Emilie while sharing a room, and we thought she could use a little break...some time away with dear old Mom, Dad, and Clara (whom she adores.)
The kids always think it is the grandest thing ever to stay in a hotel. Clara thought the hotel had set up a little tea set, just for her. She immediately started playing with the ice bucket and the cups that were left on the little table.
I am happy to say that when we got to the hospital yesterday, we went straight to "Registration B"!
That was great, except that we were supposed to be here:
...in "Registration D".
It was truly not the production it was the last time. We knew we were to go to "Registration D", but we passed "B" on the way and I couldn't resist getting a picture. I was not in good enough humor last time to take any pictures at all. :-)
Actually, when we arrived at "Registration D", we were too early...can you believe it? They didn't want to sign us in so early, so we took some time to stroll the hospital and went to the cafeteria to get a a little snack. I was really hoping to get some great pictures of Clara...she looked so cute. But she was pretty much a grump the whole day. She did perk up a little when the camera came out:
Jeff and Alyssa were enjoying just "hanging out"....
And of, of course, we had to get a sleeping picture:
As soon as we arrived back at "Registration D", they were ready for us. We never even sat down. The whole time the nurse was trying to take Clara's measurements, she was a grump. I don't know what her deal was....that is a little unusual for her. She did perk up once again, however, when the stickers came out....6 colorful, scratch-and-sniff smiley stickers, to be exact. :-)
Here is Clara working diligently to remove all the stickers from the paper:
Once she had stuck them all to her leg, she had to stick them...and sniff them...on my leg:
All smiles!
I guess the nurse figured Clara could use some smiles. :-)
We talked to the nurse practitioner for quite a while as she gathered all the facts. I don't know what my problem was, but I could not gather my thoughts. I bumbled around like a...not smart person. I feel so much pressure when we get to these appointments to make sure they know everything. It takes so long to get in with these doctors, and I am afraid that if I miss something, it will mess us all up. Clara has quite a history, and I am usually very prepared for these appointments. I have a notebook that all of her medical records are in, and usually, before I go into an appointment, I make sure everyuthing is still in order and I write a summary of why we are at that doctor with a clear list of 'issues'. Going into this trip, I was not nearly so organized. I really am having a hard time getting my act together lately. Maybe I am a little overwhelmed?
Anyway, when the NP walked out, I called Clara's geneticist, Dr. Kendall, to refresh my memory as to why we were there. On top of that, when we went to the orthopedic doctor last month, they made copies of some of her lab results, but never gave them back, so I was without all of that as well (since I didn't check the notebook before I went.). So Dr. Kendall also went through her chart while we were on the phone to remind me of her recent labs and the results. I am sure everyone there thought the hillbillies had come to town. Alyssa told me I didn't sound that scattered, but Jeff didn't comment. That's probably not a good sign.
The doctor walked in as I was finishing my phone call with Dr. Kendall, and I don't think she really appreciated the fact that I was on the phone. She was, however, very thorough with Clara, and I think we are on our way to some answers. She said that with the type of Rickets that is caused by a Vitamin D deficiency, she would expect to see really high phosphate levels. Clara's are elevated, but not as high as she would expect to see for that type of Rickets. There is another type of Rickets that is familial, which would have slightly elevated phosphate levels, but she would also expect to see it in other family members. She said that sometimes x-rays can look like Rickets, but the patient could actually have metaphyseal dysplasia, which is a form of dwarfism. In Clara's case, she is not sure which one it is. She is going to treat her with a vitamin D therapy for three months and at the end of that three months, she will do more bloodwork. If her levels improve greatly, we will know it was the Vitamin D deficiency type. If they only improve a little, we will know it is the familial type, and if they don't improve at all, then it is most likely the metaphyseal dysplasia. (I hope I am not butchering these spellings.) She agrees that there is definitely something going on with her bones. She asked me two or three times about something called Turner's syndrome, but Clara's geneticist has tested for that already. She ordered a gigantic round of bloodwork so we could compare Clara's numbers in three months. At this point, we will probably also be pursuing some more in-depth chromosomal testing with Dr. Kendall. We were going to do that testing (called a chromosomal micro array) before we moved, but our insurance ran out.
She also said this was probably something separate from the mito. Even though I knew it was a long shot, I was really hoping we were going to lose the mito diagnosis. The good thing is, she didn't mention anything that Dr. Kendall and I have not already discussed, so at least there were no surprises.The doctor really seemed to know her stuff...I got the feeling that she was probably the most experienced one in that practice, but she was very intimidating. I have been very impressed with the U of M....they definitely seem to have their act together.In a week or so, they will be sending us a full report of our visit. They will probably print mine in various forms (large print, braille, audio recording...), because I am sure they thought there was something wrong with me. Maybe I will have it better together the next time.
We still don't have all of the answers, but I think we are one step closer. I am so very thankful for Dr. Kendall who was willing to step back and take a fresh look at Clara. I am so glad she was willing to rescue us when Clara's previous geneticist left us floundering (Don't get me started on him). I am also very thankful for the University of Michigan and the professional way in which they handle their patients. I have nothing negative to say about them...all good. At this point it looks like we will probably have some definitive answers by the end of the summer. At this point, what is a few more months?
When we got home and got all of our little birdies back in our nest, we were absolutely exhausted. I stay tired pretty much all of the time, for some reason, but we were all whooped today. As a result, we had a very low-key day. I had a to-do list a mile long and I can tell you that very little of that was accomplished, which means I am still drowning in laundry. (It will still be there Monday. :-))
This is pretty much what our day consisted of:
Many blessings to you and yours!
Love,
Jeannie
Despite the grumpies, Clara is absolutely adorable as usual. And Alyssa makes me think more and more of what my best friend looked like when she was that age. :-) I'm so glad you are getting a step closer.
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