WARNING: the foods we cook for Abby are safe for her, but not necessarily for everyone. Please confirm any ingredients are safe for you before using in your diet. Food Allergies can kill and the best policy is complete avoidance. Read this post for more info.

Tuesday, January 24, 2012

Mitochondrial Disease +Kidney Disease

For any reader that has issues with TMI and body functions- I suggest you skip this post! :-)

After years of limbo and a vague diagnosis, Abby developed kidney disease at around age 14. Looking back, I suspect she probably had symptoms for years, just nothing significant enough to warrant a trip to a nephrologist.

At 13-14 Abby was attempting a year in Public High School(a whole other post!). She was exhausted,constantly sick and obviously beyond worn down. At this point we knew about the kyphosis/scoliosis and were beginning to accept that what we were seeing did not fit the "undefined congenital myopathy". So, when she told us she was peeing raspberry jello- Panic set into my heart.

Her first family Dr. thought it was likely a "girl" issue- NOT. We saw a new family Dr. who said NOT NORMAL- and we needed to fully investigate.

The first Nephrologist we saw was really good. Her thoughts was something "odd" and "unusual" was presenting. Abby had both protein and blood(both visual and non visual)not to mention the amount of mucus.. So, we were scheduled to see her again and she was wanting Abby to see a number of specialists as she felt this kidney issue was secondary to some other disease process. However, we got a note a couple weeks before our appointment that she was moving to Atlanta. We went ahead and took an appointment with her replacement who told us that Abby needed to drink more water and poop more and she would be fine. I am not kidding folks- I was speechless- and that NEVER happens!

Finally we got in with Abby's current Nephrologist who turned out to be the catalyst to finding the Mitochondrial Depletion Syndrome.

Right now Abby's kidney diagnosis is "suspected secondary FSGS" due to Mitochondrial disease. With time and continued symptoms that will become "confirmed" but since no other disease process fits, Secondary FSGS it is.. and it is a lousy diagnosis. No treatment. Basically, her body is being too hard on her kidneys, or her kidneys aren't strong enough(perhaps a depletion here?) to handle her body. She is on a very low dose Ace which isn't slowing the protein(leaking proteins cause scarring). When we started this journey she was a 1+ or 2+ on proteins on bad days, and now and then would still have no protein. Today for the last couple months she is up to off the chart 4+ almost as many days as she is 2+. We have not seen a protein free dip in months.

During this process we were referred to Urology- Abby is leaky at times and the Nephrology felt the visual blood and mucus was coming from her bladder. Her bladder is small but no reflux(worlds WORST medical test!). Finally, the visual blood has stopped- we all suspect she had a broken blood vessel or bladder ulcer- we decided to leave the bladder alone for now- the next test would be a scope(have to knock her out)and it isn't worth the risk if the the worst of the symptoms are abating.

We have spent three years trying to figure out if something Abby is doing triggers a response from her kidneys. MSG- will cause a spike in protein,Dairy with cause a spike,a head cold, stress, fatigue will cause a spike in her protein level. So, just living - the only thing we can offer Abby is for her to not over do it and to avoid foods that cause a reaction.

It has been difficult to find other patients with a similar diagnosis- secondary FSGS is so far not a common finding in the Mito population. I have found a few now though. 50 percent have stayed on a mild course. 50 percent are barreling toward serious problems.

There are only a few different papers on this population of patients. So, no telling what is coming at us. Both UMDF and MitoAction do have a little bit of information on Renal diseases and Mito- but not a lot.

When Abby was little she had frequent "bladder infections/UTI's" (white blood cells,blood and protein)but I remember that they would culture her urine and no bacteria would show up- which leads me to wonder if this kidney issue was at work all the way back in the Toddler years.

My warning to all Mito Patients- Watch your Pee! You can buy urine test strips online(we buy from Amazon for less then 25.00)they test for a number of findings. Protein, Glucose, ketones.. and more. It has been very interesting that often before something is diagnosed in Abby, her urine has been hinting at an issue. The home urine strips are reasonably accurate- at least enough to show a problem. The key for testing urine is always first morning pee only. Studies indicate the first morning urine equals accuracy to a 24 urine catch. If you find a problem I recommend charting. We tested daily for months and months. It helped the Nephrologist recognize that this was an unusual disease process.

This last few weeks I have been trying to ignore Abby's kidneys. Since there isn't anything to be done unless something serious happens I have been trying very hard to not fixate on them. Hard to ignore though. Abby seems to get more delicate by the day. Some how she manages to avoid any major issues - but I feel like we are watching the clock- which of Abby's organs are going to crash first? Her kidneys? liver? Lungs? For now, her body is complaining, but coping- we are from a long line of tough and hardy people- I can only hope she got a good dose of those genes too!


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