Saturday, August 1, 2015

Still a medical mystery

We met with Dr. Sas at 3pm last Tuesday and then finally headed for home after a very long week. All the kids did really fabulous being flexible and off schedule. I was so proud of their behavior. Even Evan wasn't fussy when he snuck in cat naps when he could.

There was a small changing area in the corner of the room that closed off with a curtain. Adam and Sara hid back there before he came in and I heard Sara say "Don't jump out, just say 'Boo!'" Adam started the conversation by telling the doctor "We were going to bring you a Cinnabon but we ate it!" I love that here we were at Mayo Clinic and the kids were just their normal selves making the doctor laugh.

Dr. Sas led off by telling us that he has "no unifying diagnosis" yet. That means her symptoms, lab results, etc., do not fall within any of the defined unique/rare causes for kidney stones. The closest we came a few months ago was thinking it was a genetic issue with her calcium receptor channel that was sending too much calcium to her kidneys. Dr. Sas does not believe that is the issue.

He did have 4 items to note. Some are small abnormalities but he wants to pay attention to everything that is odd, no matter how small.

First and most noticeable, Sara has Hypercalciuria. That means that her urine is excreting abnormally high levels of calcium. She started taking Diuril in March for the calcium that was elevated but tests at Mayo showed it has not helped at all. Therefore, he tripled her dose and will recheck her 24 hour urine test levels the week prior to surgery. We also have to take her next week for bloodwork to check all of her electrolyte levels to see if the increased dosage has thrown anything else in her body off. Sara has had 4 24 hour urine tests now and he pointed out that her calcium levels in her urine have increased in every one, whereas most children it decreases as they get older.

Second, Sara's phospherus in her blood was a little low but the phospherus in her urine was normal. He would expect those levels to line up. If it was low in the blood, then it should be low in the urine because the body would excrete it at the same level.

Third, Sara's magnesium in her urine was twice the normal level but the magnesium in her blood fell within the low end of the normal range. Again, if it was so high in the urine, he would expect it to be high in the blood.

He isn't sure what that means just yet but is just careful to go thru all abnormalities in great detail.

Fourth, Sara has elevated retinol binding protein in her urine. That is a marker for proximal tubular dysfunction. The number is not thru the roof so some diseases can be ruled out.

Sara would benefit from a broad genetic test, which has not been developed yet but Mayo is very, very close. They are currently talking to donors about raising research funds to complete the development.

When we come back for her surgery, he wants a bone density test and for us to talk to his unique kidney stone registry team. They will take a sample of her blood (and a stone sample from surgery) and put it in a "bio bank". When new tests become available, they will pull her sample and run it without having to contact us for samples every time.

We left with 3 directions:
1. She is to have 1 1/2L of fluid every day. That is a lot for a 6 year old to take in...especially one who is stubborn sometimes. Some days it is exhausting staying after her. I have been talking to her about how she needs to take some responsibility with her water. She is so young to teach these things but I don't have a choice when I am not around her every minute of the day.

2. We need to limit her sodium intake to 1200mg per day. Dr. Sas isn't sure if this will make any difference but he wants to see. I have been tracking her food thru an app and am aiming for 350mg per meal and 150mg for snacks and treats outside meals.

3. As mentioned earlier, he increased the dosage of her Diuril from 1.25mL once a day to 2mL twice a day. It can cause an urgency to go to the bathroom. I have heard her rushing to the bathroom in the middle of the night a few times but so far she has made it!

While we don't have answers yet, we walked away from this week full of hope. No one at Mayo threw up their hands and said they didn't know what to do. We never felt rushed in our communication. There were multiple days that Dr. Sas called us personally or we dialogued via email.

This is where we are supposed to be!

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