incontinence for over a week. what now?

carrotsprout · Nov 23, 2010

dd has been having multiple accidents daily now for over a week. more accidents than not actually.
 
she had a urine culture last tuesday. this afternoon we got the results. unfortunately, no uti. if you've been in this place, you can surely understand hoping for a uti. i was pretty sure it wasn't though. she is not feeling much. 
 
so the nurse for the dr who ordered the culture suggested we go to nephrology. i think this is the wrong specialist, but i called anyway. he is on vacation for a week. i don't really know what to do. if i wait for him, it will be 2 more weeks before we can go and find out we should have gone to neurology to begin with. or, do i try to get in with urology? she had a vcug last year, which was negative. at that time she had a kidney infection. since she had a few in a row, they did the vcug to investigate that.
 
 
 
please share your experiences. what could cause this? she is ten. metabolic issues. acidosis w/elevated anion gap,episodic.
assorted other issues, but the other issues are minor in comparison. 
 
you know how sometimes something keeps popping up in the mind and you can't shake the thought? it's just there--even when you are functioning and moving on with life for the day--i keep thinking myelin damage. i don't think i'm alone in the thought though. when we went to the dr last week, it was actually the metabolic geneticist. she had an accident at his office. he ordered the culture after doing a dipstick that was negative...but he did more tests on her legs and feet than i have ever seen him do before. of course, i looked at the lab slip. i noticed he ordered a very long chain fatty acid panel. 
 
i'm just really confused. i don't know if i should be making a lot of noise to try and get her in soon, or if i should try to call afterhours so i can actually talk to the dr instead of a nurse, or just wait because there isn't much to do anyway.
 
edit to add: she is 10.

AllieFaye · Nov 24, 2010

It could be Tethered Cord Syndrome. My son's doctors have said that about half the TCS kids are idenitifed when they become symptomatic (the other half at birth.) A neurosurgeon would be the doctor to see, or the PCP could order a spinal x-ray, spinal ultrasound or MRI. If you do see a neurosurgeon, then an MRI would be a must to plan for surgical detethering. If it is a symptomatic presentation, then time is important. Once symtoms occur then they don't improve after surgery, only the progression stops.
 
Regardless, a week of incontinence without UTI is an urgent concern. Do not wait weeks for doctors' vacation schedules.

carrotsprout · Nov 24, 2010

thanks. i have actually never heard of that.
 
i ended up calling the metabolics/genetics team after that post. i know that sounds a little crazy, but they do a fantastic job. they don't get as uptight about needing to deviate from the prescribed order. the geneticist agreed that while nephrology or urology could be a good starting point, it certainly is not worth a week delay. he suggested this is probably a neurological issue based on the full picture and THAT work up is priority right now. he did give me the option of bringing her in through the emergency room and having her admitted to get a faster workup. he said he would tell the admitting to treat this as neurological so she gets this investigated soon. however, he felt another good option was to call neurology and ask for stat action directly. again, that was late monday night.
 
so here we are wednesday now. genetics arranged for the insurance approval and got neurology to do the orders. (she sees the neurogeneticist so they have a nice level of cooperation). we are waiting for a slot. genetics called this morning to update me and tell me to be on standby to get up there. the plan is to get it done today. if it can't be today it will be friday. of course, we can always go get admitted instead. we have been ten weeks without an admission now so i'm really hoping to keep going with that

.
 
her port is accessed now. i am hoping we don't have to take it out.

sbgrace · Nov 25, 2010

What is her underlying diagnosis--is her metabolic disorder an FOD (you mentioned running long chains so I'm assuming it's a fatty acid disorder)? You're not seeing any other changes or issues?

carrotsprout · Nov 25, 2010

<div class="quote-container">Quote:
<div class="quote-block">Originally Posted by sbgrace <a href="/community/forum/thread/1281234/incontinence-for-over-a-week-what-now#post_16072443"><img alt="View Post" class="inlineimg" src="/community/img/forum/go_quote.gif" style="border:0px solid;"></a> What is her underlying diagnosis--is her metabolic disorder an FOD (you mentioned running long chains so I'm assuming it's a fatty acid disorder)? You're not seeing any other changes or issues?
</div>
</div>
 
okay, here's the weirdness in all this: we don't really have a diagnosis. i mean, we do but we don't. our geneticist will not diagnose until he is absolutely positive the child will not benefit by delaying diagnosis. he did refer us out to cleveland clinic. dr parik, at first, was like---why is there no diagnosis with all the workups? she has fantastic records, i don't understand this.
 
it wasn't long before he was joining the ranks of the confused, lol!
 
what happens is this: she seems to fit neatly inside a category during an episode. and then the next episode will contradict the first

.
 
the only truly consistent labs during episodes:
low CO2 (the lowest was 9)
high anion gap (usually about 10 points over cut off)
ketone ratios: uoa: hydroxybutyrate is typically about 4 times over acetoacetic. (for example --approx 21,000 and 5500. another was 17,000 and 4,000) --ref is <11 and <6
 
so the current diagnosis is primary metabolic disease. encephalopathy is on the list somewhere. i have come to terms with living without a better diagnosis. if we get one, fine. it's not a big deal to me anymore. our insurance paid a lot of money to cleveland clinic to develop a treatment plan based on her history and lab results. it works pretty well. we have excellent protocols in place. we even know the er doctors quite well. (she gets an auto transfer to level 2 at the er--so it's a relatively small staff). 
what i'm sure of is this: i'm not willing to let an episode last 5 minutes longer than it has to in order to get a test at this point. 
 
just to be clear about it--i am not critical of anyone at a different need-for-diagnosis place. it's a lot easier to not care about a diagnosis when you have a respected medical team backing it for you. it''s also easier when you have a long history of grossly abnormal labs that point to metabolic issues. and when those labs have a history of getting even worse after lactated ringers, you get even more support. we stick with the same hospital whenever possible. in the rare event we can't, i carry letters and insist they call, lol! (a few times weather issues have interfered)
 
 
does she have an fao? well, good question. it has been the most frequent suggestion. however, she's a ketone producer. personally, i think she could be in the schad category with its unusual fao with ketosis cases. but then, her muscle biopsy showed acid phosphatase staining of lysosomes, so that can make one investigate lysosomes or perixosomes. 
 
i hate to speak in labs so much, but i have found when the history gets longer, it is better to stick with objective values for most things. for the current issues, subjective is still the winner. but subjective with a six year hunt for a molecular wild card can add to the confusion.
 
any other new symptoms? she's lost weight. not a lot but some. 61 lbs to 58, appts about 2 months apart. she had been at 61-62 for several months. we checked another scale, and it confirmed the 58.
 
she is 4ft 6 inches.
 
she seems weaker to me, too.

incontinence for over a week. what now?

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