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Dr. Hive - diagnose my daughter (long!)


greenbeanmama
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I’ve been noticing some concerning symptoms in my five-year-old daughter, and am trying to find some answers – or directions to start looking for answers.  Hopefully the Hive can help!

 

Background:  She hit all developmental milestones just fine (rolled over at 3.5 months, sat up at 5 months, walked at 11 months).  She has always been pretty physical (learned to flip herself over baby gates to climb the stairs at 10 months) and was never afraid to try anything (“Want to see me jump off the kitchen table?!?â€).   Somewhere around age 4 or so, I noticed she was starting to walk a bit pigeon-toed.  By 4.5, she was extremely pigeon-toed (one foot actually overlapping the other, toes on top of each other when standing still) and she was wearing holes in the tops of her shoes due to dragging her feet.  Our doctor sent her to a neurologist.  She’s had hip x-rays, MRI of the lower spine, and several other tests – all coming back normal.  We started physical therapy.  The physical therapist said besides the gait abnormalities, she has definite weakness in her legs and core.  My daughter is doing very well with the PT, and her gait has noticeably improved, though it’s still obvious she walks wonky.

 

What’s concerning me is the number of weird symptoms she seems to be displaying all at once.
--She’s always been a bright, extremely logical child and has had no problems in kindergarten.  Her teacher said that now she is struggling in math – with concepts that I know she understood last semester.
--Her speech is a little less clear – she’s replacing “b†with “v†sometimes, “th†and “f†are switched, as are “d†and “tâ€.  I know that’s common and normal for this age, but it’s not common or normal for this child.
--She’s been writing more letter reversals; actually more noticeable with her numbers, which never was an issue before.
--For the past few months, she spills her water glass at every single meal.
--She complains of being “super tired†even though I am letting her sleep in as much as possible (getting 10.5 to 11.5 hours of sleep a night, not really sleeping in on weekends when she has a chance) – she is visibly dragging by late afternoon most days.  She asks to skip school almost every morning because she’s “too tiredâ€, though she does enjoy kindergarten.
--For my social kid, she does not want to participate in things that she has loved so far, like her weekly dance class.
--She is having issues with “leaking†a little bit (no full-blown accidents, just dampness), and major urgency issues.

 

After ruling out several other things, her neurologist felt that she may have had a perinatal stroke, but didn’t feel the need for an MRI of her brain at the time.  I’m not happy with that answer, as it would seem that she should have been having issues all along if the problem happened close to birth, instead of the gait abnormalities showing up at age four.  Add in all the other weird stuff, and it’s not fitting at all.  We’re not scheduled to see the neurologist again until June, and all of this has cropped up since her last appointment.  I’ve been researching possible causes, but I’m not coming up with much: a stroke later in childhood (or a series of TIA strokes), possibly seizures, or maybe some kind of neuromuscular disorder that I haven’t stumbled on yet.  Obviously, we’re pushing for the MRI of her brain, but we’re looking into options for a second opinion as well.  I feel like there’s a piece of the puzzle that I keep missing and can’t fit it all together.

 

Anyone have suggestions of where to look for answers?

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Any chance you could get an appointment with your ped to start documenting what going on now? They could order blood work now and even an mri. Plus, they could speed up your appointment time. Spend the weekend gathering evidence, researching symptoms and call the ped Monday or if you think the neurologist will get you in quickly call them.

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Have you done genetic testing? There are a huge number of genetic disorders that can cause a bunch of random symptoms. 

 

I would push for an MRI though if these are new symptoms. Sometimes kids progress and regress in some areas seemingly at random, but that's a lot of stuff to have start happening all at once.

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That fits closer than what I've been finding.  I'll jot that one down - thank you.

 

Any chance you could get an appointment with your ped to start documenting what going on now? They could order blood work now and even an mri. Plus, they could speed up your appointment time. Spend the weekend gathering evidence, researching symptoms and call the ped Monday or if you think the neurologist will get you in quickly call them.

 

I've set up an appointment with her regular doctor for March 5th (the earliest they could get us in) - it's our family physician, but he "hears" me better than the neurologist, and I think he'd refer us elsewhere if needed.  He is up-to-date with the neurologist's records.

 

Has she had an EEG?

 

No.  It's never even come up before.

 

Have you done genetic testing? There are a huge number of genetic disorders that can cause a bunch of random symptoms. 

 

I would push for an MRI though if these are new symptoms. Sometimes kids progress and regress in some areas seemingly at random, but that's a lot of stuff to have start happening all at once.

 

We've not, but the genetic factor is definitely on my radar.  Autoimmune disorders seem to run on one side of the family (MS, Grave's disease, ulcerative colitis, etc), so it wouldn't surprise me if it were something along those lines.

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With super tired and leaking, I'd encourage you to have her blood glucose levels checked. I know that doesn't take into account some of the other concerns on your radar, but those two are red flags for me, and may be a piece of the puzzle or at least another clue.

 

Actually, we've had that checked several times.  The urgency has come and gone in the past, and she has an uncle with type 1 diabetes.  Her numbers have always been fine (actually, usually on the lower side of normal).  We've also ruled out UTIs when it's been an issue.  The leaking bit is new though.

 

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I would get a second opinion with a different neurologist.  Specifically a pediatric neurologist  and preferably at a teaching hospital or children's hospital.  Be prepared though, wait times can be long (don't cancel other appointments) and you may be on a path that requires many specialists to figure it all out. 

 

When I go into a second opinion, I give the new doctor all the same preliminary info.....but never the other specialist's ideas. For the most part, the 2nd opinions have matched what he 1st specialist has said, but there have a been a few times, that new information and new questions have led us down a different path.  I like to write down all the information I have in very brief, bullet format and hand it to the doctor.  I write timelines and any testing down.  I give it to the doctor at the beginning of the appointment, so I don't have to wait for them to ask specific questions and forget details that may be important. 

 

Before I select a doctor....I also look at any published articles, and read as many bios about them as possible.  My daughter has seen 4 different neurologists.  They all had different subspecialties.  My daughters migraine specialist doesn't treat her POTs issues, and her POTs neurologist doesn't treat the migraine issues without talking to the migraine specialist first *even though migraines are a part of the POTs.  We had one more general neurologist who gave general answers and very basic information about migraines in the very beginning, before we  switched to a migraine specialist and one other neurologist that handles only specific neuromuscular issues. We were sent to that doctor to rule out something they specialized in. 

 

Do you have a Shriners for Children in your area?  I wasn't a huge fan of the neurologist we saw there for my dd,  but they are supposed to be great at neuromuscular issues.  My daughter's issues weren't in that doctor's specialty and she basically told my daughter "There is something wrong but I don't know what it is, so I can't help you. There is nothing I can do for you, so you don't need to come back".  Which may be very true, but it was odd to hear a doctor say so directly and dismissively.  (It took another neurologist, a cardiologist and 2 geneticists to finally get a diagnosis LOL so it definitely wasn't a simple issue to diagnose)

 

Good luck and lots of hugs.  It is so hard to have a child where you know something isn't right, but you don't know what is wrong either. (((hugs)))

Edited by Tap
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I can't think of a diagnosis that fits off the top of my head*, but I will back up your feeling that something is actually wrong. And if it's been getting worse then it's quite wrong. Get another neurologist, and another, until you find somebody who will take this seriously. Also a geneticist.

 

 

* Actually, I can think of *one*, but it's pretty unlikely: Juvenile Tay-Sachs. It's rare enough that even people who diagnose Tay-Sachs often don't realize it's a possibility, because pretty much everybody is only familiar with the infantile kind. If you and your husband are from one of the three major ethnicities that carry the gene in the US - Ashkenazi, Cajuns, or Irish-Americans - then I'd get that ruled out. Otherwise I'd look at pretty much any other condition. I only think of that particular condition because it's so unlikely. I don't think all the symptoms even fit anyway.

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I would get a second opinion with a different neurologist.  Specifically a pediatric neurologist  and preferably at a teaching hospital or children's hospital.  Be prepared though, wait times can be long (don't cancel other appointments) and you may be on a path that requires many specialists to figure it all out. 

 

When I go into a second opinion, I give the new doctor all the same preliminary info.....but never the other specialist's ideas. For the most part, the 2nd opinions have matched what he 1st specialist has said, but there have a been a few times, that new information and new questions have led us down a different path.  I like to write down all the information I have in very brief, bullet format and hand it to the doctor.  I write timelines and any testing down.  I give it to the doctor at the beginning of the appointment, so I don't have to wait for them to ask specific questions and forget details that may be important. 

 

Before I select a doctor....I also look at any published articles, and read as many bios about them as possible.  My daughter has seen 4 different neurologists.  They all had different subspecialties.  My daughters migraine specialist doesn't treat her POTs issues, and her POTs neurologist doesn't treat the migraine issues without talking to the migraine specialist first *even though migraines are a part of the POTs.  We had one more general neurologist who gave general answers and very basic information about migraines in the very beginning, before we  switched to a migraine specialist and one other neurologist that handles only specific neuromuscular issues. We were sent to that doctor to rule out something they specialized in. 

 

Do you have a Shriners for Children in your area?  I wasn't a huge fan of the neurologist we saw there for my dd,  but they are supposed to be great at neuromuscular issues.  My daughter's issues weren't in that doctor's specialty and she basically told my daughter "There is something wrong but I don't know what it is, so I can't help you. There is nothing I can do for you, so you don't need to come back".  Which may be very true, but it was odd to hear a doctor say so directly and dismissively.  (It took another neurologist, a cardiologist and 2 geneticists to finally get a diagnosis LOL so it definitely wasn't a simple issue to diagnose)

 

Good luck and lots of hugs.  It is so hard to have a child where you know something isn't right, but you don't know what is wrong either. (((hugs)))

 

We've been seeing a neurologist at a chiildren's hospital about 90 minutes away.  The other option is a teaching hospital in the other direction, about two hours away.  No Shriners near us (5 hours away...doable if necessary, though not my first choice).  I am thinking we'll be trying the teaching hospital.  I do go into appointments with a list, but I've never just handed it to them - that may save a lot of time!

 

I can't think of a diagnosis that fits off the top of my head*, but I will back up your feeling that something is actually wrong. And if it's been getting worse then it's quite wrong. Get another neurologist, and another, until you find somebody who will take this seriously. Also a geneticist.

 

 

* Actually, I can think of *one*, but it's pretty unlikely: Juvenile Tay-Sachs. It's rare enough that even people who diagnose Tay-Sachs often don't realize it's a possibility, because pretty much everybody is only familiar with the infantile kind. If you and your husband are from one of the three major ethnicities that carry the gene in the US - Ashkenazi, Cajuns, or Irish-Americans - then I'd get that ruled out. Otherwise I'd look at pretty much any other condition. I only think of that particular condition because it's so unlikely. I don't think all the symptoms even fit anyway.

 

We know very little about one side of my family, as all connection was cut off when they immigrated to the US a few generations ago.  The only thing adamantly said was that we were *not* Jewish...with a very Jewish surname.  I think we'll add that to the list of things to rule out.  Thank you - that certainly wasn't on my radar.

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I don't think HSP has a backwards moving cognitive dysfunction does it?

 The increasing pigeon toe is odd and I have this problem, especially walking downhill.
Strangely enough - the super tired sounds auto immune neurological, and if so, then that means the sooner it's sorted out, the sooner something like IVIG or antibody therapy might work for her.  The pigeon toed gait I do have as well as the cognitive issues with spelling, reversing, etc. that I've never had in my life and, currently, specialists think auto-immune related neurological, so I hope that's somewhat encouraging.  

If you look at (and measure) her calves - are the same size? "Dent" in either?  Are her reflexes normal - hyper or hypo?  The gait - is it because one side is dragging/dropping?  Like she lifts one of her hips?

 

My experience with neurology?  Get referred to a university hospital unless you're close to the Cleveland Clinic or a Mayo. 

Because, while you may like your neuro, I really think this is not something he can throw a dart at and shrug.  Not with auto-immune neurological stuff because there CAN be help and time really is relevant.  

The incontinence thing is usually fairly specific to different neuromuscular diseases. I know it can be part of MS and you'd want an MRI.   Juvenile MS does exist and I suspect the symptoms are very close to what you are describing?  

Edited by BlsdMama
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I'd keep autoimmune encephalitis in the back of my mind.

 

That said:

 

Start keeping journals in list format. Take them to every appointment. Get copies of all the labs and tests. Take them to every appointment.

 

If possible, make copies of the journal and the tests to give each doctor you see.

 

Familiarize yourself with tests and compare results if they're rerun. Even basic labs.

 

Watch for patterns.

 

Hugs to you. I hope an answer is found quickly.

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Ok, I hate to say it, but if you haven't seen a neuro since the changes in cognitive function, you need to go right away. Call them and tell them she's having new cognitive issues, new coordination issues with her hands, not just legs. This is progressing and you need her brain checked immediately. I mean, I'm sure the odds are super low, but if ever there was reason to worry about a brain tumor, stuff like this would be when. I would NOT wait a month or several I'd be somewhere on Monday morning. I would NOT give up until someone looked at my child's brain and told me it was okay. Days matter if, God forbid, there was a tumor. 

 

Call Neuro Monday at the latest and say new and progressively worse symptoms and insist on an emergency visit/MRI. Or drive to your nearest children's teaching hospital and insist on being seen. 

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First, hugs to you because this must be so very difficult. You are a brave and glorious mama. 

 

Second, if you haven't already, which you probably have, be sure to join online communities with other parents dealing with this type of issue. It may take some time to find your group, or rather the group that has children with your child's symptoms, but those communities are invaluable both in helping you find connections for a medical diagnosis (they are often incredibly well educated on whatever their children are dealing with) and for support and encouragement. And finding good doctors and good restaurants near the good doctors. 

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--Her speech is a little less clear – she’s replacing “b†with “v†sometimes, “th†and “f†are switched, as are “d†and “tâ€.  I know that’s common and normal for this age, but it’s not common or normal for this child.

--She complains of being “super tired†even though I am letting her sleep in as much as possible (getting 10.5 to 11.5 hours of sleep a night, not really sleeping in on weekends when she has a chance) – she is visibly dragging by late afternoon most days.  She asks to skip school almost every morning because she’s “too tiredâ€, though she does enjoy kindergarten.

--For my social kid, she does not want to participate in things that she has loved so far, like her weekly dance class.

 

Has she seen an audiologist for full booth testing (the kind that takes about an hour, not the brief screening at the pediatrician's office)? If not, then she needs to get one ASAP. These are all symptoms consistent with hearing loss. And kids who have partial hearing loss that only affects certain frequencies may be able to compensate well enough through lip-reading that it isn't obvious they can't hear properly. BTDT

 

Those consonant mixups would be consistent with a high frequency loss.

 

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We know very little about one side of my family, as all connection was cut off when they immigrated to the US a few generations ago.  The only thing adamantly said was that we were *not* Jewish...with a very Jewish surname.  I think we'll add that to the list of things to rule out.  Thank you - that certainly wasn't on my radar.

 

I don't think it's on anybody's radar unless they know they're a likely carrier, in which case they test before they have kids. But I'll reiterate that the good news here is that it's extremely unlikely - which your doctor will tell you! I think it's worth testing for the gene just in case, but thankfully, it's very very rare. It just springs to mind because I know about it.

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I strongly second Tap that you get an appointment with a different pediatric neuro, too. I had two neuros in a row, a year apart, dismiss my 3 and then 4 year-old's staring spells (petit mal, or absence seizures) as "of course he stares, he is autistic". A third neuro, after a seven month wait for an opening, did an unmedicated overnight EEG and found abnormal activity in the part of the brain in charge of language. Seizure meds helped with that. A SPECT scan showed reduced blood flow to parts of the brain, too. Steriods helped that improve.

This neuro also sent us to a audiologist specializing in "his" kind of patients - she did cordically-evoked potential test that found a severe auditory processing delay. Kid's basic hearing tests had always been fine - but his brain was unable to process and thus understand a lot of what he heard. This improved after medication, too (same meds being used already).

 

Getting to the right doc can make a world of difference.

 

BTW son did not potty train until five years old, a few weeks after starting prednisone. That was a bonus! Doc simply said "oh, yes, increased bodily awareness" when I reported this. Kiddo's fine motor improved a lot, too. So we didn't just get language from finding the right neuro.

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What was happening with her immune system before the time when you first noticed symptoms? Any illness or infection? Any antibiotics, medication or vaccines? Any special insect bites? Any changes to her diet?

 

Has she developed any sensory sensitivities? any sensitivity to noise, touch, bright lights, increased pickiness with food, increased appetite? Increased fear?

 

Have there been any changes to bowel movements? Any rashes or skin problems? Any new allergies or sensitivities?

 

Have you checked her for seizures?

 

Any new night waking?

 

Has she noticed what is happening to her or expressed anything about it?

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Ok, I hate to say it, but if you haven't seen a neuro since the changes in cognitive function, you need to go right away. Call them and tell them she's having new cognitive issues, new coordination issues with her hands, not just legs. This is progressing and you need her brain checked immediately. I mean, I'm sure the odds are super low, but if ever there was reason to worry about a brain tumor, stuff like this would be when. I would NOT wait a month or several I'd be somewhere on Monday morning. I would NOT give up until someone looked at my child's brain and told me it was okay. Days matter if, God forbid, there was a tumor. 

 

Call Neuro Monday at the latest and say new and progressively worse symptoms and insist on an emergency visit/MRI. Or drive to your nearest children's teaching hospital and insist on being seen. 

 

I agree with this 100%. I'd be very concerned about a brain tumor. I'm sorry Mama - I hope it's nothing serious, but I would not wait. 

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I don't have any expertise, but your daughter's symptoms are alarming.

 

The NYTimes magazine section frequently has articles about with devastating symptoms, not helped by any medical treatment -- until someone, somewhere hits on the correct diagnosis. What is common to all is the vast numbers of professionals who cannot figure out what is wrong before someone gets it. Sometimes it's a specialist, sometimes a new doctor who recalls an obscure article.

 

I guess what I am trying to say is that you need to see more doctors asap, as many have suggested. How do patients get to someplace like the Mayo Clinic? Maybe starting with a multidisciplinary team locally?

 

My experience has been with much less urgent or severe things, but when I needed appointments, I would call repeatedly, but always in a friendly way, be ready to come in to fill in a cancellation. The list of symptoms you have is pretty alarming. Can you send that to various children's hospitals, specialists, etc?

 

I can't quote on phone, but I don't think ktgrok's suggestion of driving to a children's hospital and insisting on being seen is out of line.

Edited by Alessandra
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I don't have any expertise, but your daughter's symptoms are alarming.

 

The NYTimes magazine section frequently has articles about with devastating symptoms, not helped by any medical treatment -- until someone, somewhere hits on the correct diagnosis. What is common to all is the vast numbers of professionals who cannot figure out what is wrong before someone gets it. Sometimes it's a specialist, sometimes a new doctor who recalls an obscure article.

 

I guess what I am trying to say is that you need to see more doctors asap, as many have suggested. How do patients get to someplace like the Mayo Clinic? Maybe starting with a multidisciplinary team locally?

 

My experience has been with much less urgent or severe things, but when I needed appointments, I would call repeatedly, but always in a friendly way, be ready to come in to fill in a cancellation. The list of symptoms you have is pretty alarming. Can you send that to various children's hospitals, specialists, etc?

 

I can't quote on phone, but I don't think ktgrok's suggestion of driving to a children's hospital and insisting on being seen is out of line.

Have you ever had a child seen at a children’s hospital? It’s not that simple. Our children’s hospital is a regional hospital and they will triage all potential patients to see if they will see them and how soon. A doctor has to refer to our children’s hospital. Then the department doctors go over the file and in our case called asking more questions. Only then were we given an appointment. My daughter has a rare tumor in her head so we weren’t trying to be seen about a cold, either. I am not saying this to discourage you. A children’s hospital is a good place to go but just be aware that there is a definite protocol. (I don’t know if all children’s hospitals work the same way so the best thing to do is to call and ask. )

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Have you ever had a child seen at a children’s hospital? It’s not that simple. Our children’s hospital is a regional hospital and they will triage all potential patients to see if they will see them and how soon. A doctor has to refer to our children’s hospital. Then the department doctors go over the file and in our case called asking more questions. Only then were we given an appointment. My daughter has a rare tumor in her head so we weren’t trying to be seen about a cold, either. I am not saying this to discourage you. A children’s hospital is a good place to go but just be aware that there is a definite protocol. (I don’t know if all children’s hospitals work the same way so the best thing to do is to call and ask. )

 

At the one we wanted my daughter to go to we contacted the doctor ourselves and were able to be seen fairly quickly even though we were out of state. Then we went backwards to get the insurance to expedite approval. Policies can vary- the doctor we saw is internationally known and regarded as the best for what we wanted. He's a neurologist. OP- if you want to PM me I'll give you his name. He is also top notch in areas other than our specific issue.

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What is common to all is the vast numbers of professionals who cannot figure out what is wrong before someone gets it. Sometimes it's a specialist, sometimes a new doctor who recalls an obscure article.

 

 

Just look at the suggestions in this thread. I don't think any two of us have suggested the same thing to look for, though we all agree that this set of symptoms is alarming. (Which makes me think that whatever it is is going to be a beast to diagnose. *hugs*)

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Have you ever had a child seen at a children’s hospital? It’s not that simple. Our children’s hospital is a regional hospital and they will triage all potential patients to see if they will see them and how soon. A doctor has to refer to our children’s hospital. Then the department doctors go over the file and in our case called asking more questions. Only then were we given an appointment. My daughter has a rare tumor in her head so we weren’t trying to be seen about a cold, either. I am not saying this to discourage you. A children’s hospital is a good place to go but just be aware that there is a definite protocol. (I don’t know if all children’s hospitals work the same way so the best thing to do is to call and ask. )

Our children's hospital has a ER. We have only gone for true emergencies, like appendicitis.

 

But there is a separate operation in same hospital complex where pediatric evaluations and therapy is done, six month wait. But, by calling every week -- on whatever day weekly schedule was made -- I got to know the scheduling people and reiterated that I could be in on an hours notice. That got results. Ymmv.

 

But I've never had a situation like op's that was *both* complicated and extremely time sensitive.

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Our children's hospital has a ER. We have only gone for true emergencies, like appendicitis.

 

But there is a separate operation in same hospital complex where pediatric evaluations and therapy is done, six month wait. But, by calling every week -- on whatever day weekly schedule was made -- I got to know the scheduling people and reiterated that I could be in on an hours notice. That got results. Ymmv.

 

But I've never had a situation like op's that was *both* complicated and extremely time sensitive.

I agree on persistence. We had to push for our daughter too. But our hold up was with the paperwork from the primary care doctor. Dh had to go down and refuse to leave the waiting room until the papers were signed and faxed. I did the daily calls as we tried to get the brain mri expedited. In our case we knew the tumor was there in the eye but needed to see if it was also in the brain. As you found out, the scheduling office can be your friend. Edited by Jean in Newcastle
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How good is your insurance?  Like, do you have an ER co-pay or do you have ER co-insurance?  I'm asking pretty sincerely.

 

My daughter died of a brain tumor. Your daughter's symptoms concern me.

 

If you have good insurance, I would give serious consideration to doing a walk-in to an ER, telling them what you've told us. Push, push hard for a MRI.  They may not have walk-in MRI, and offer you a CT instead.  I am not particularly found of CTs, but it's a way, in 10 minutes or less, to give you a straight up yes or no on the brain tumor front. 

 

If you don't have good insurance, I still think you need to push to get a MRI done.  I would be less concerned with a pediatric friendly hospital at this point, but somewhere with a high volume of neurology (like a teaching hospital). Depending on your city, your only option may be the pediatric hospital (all cases will refer there), but sometimes there are options.  When my dd presented with symptoms, we had an overnight wait.  It was actually the pediatric ophthalmologist that wrote the order for the MRI, and called the hospital's scheduling office.  This is something the pediatrician can write for; it will just be reviewed also by radiology. (And, frankly, I prefer neuro-radiologists reading my scans compared to neurologists.) MRIs always have emergency work-in slots on the daily schedule.  You need to find someone with connections who can get you in in the next 7-10 days. 

 

I think your current neurologist is giving you really bad advice.  I don't think, given the progressive nature, that this is something to wait on. 

 

Even if the CT or MRI is clean, I would still be pushing for answers now rather than wait and see. 

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A totally off the wall suggestion that may or may not work. And depends on having a superb and caring pediatrician. Our ped has called ER ahead of time AND called a specialist to 'drop in' to ER. This got us a quick appointment and worked with our insurance, as specialist was out of network.

 

I realize this is above and beyond and will be forever grateful. It can be a way into the system when need is justified.

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Have you ever had a child seen at a children’s hospital? It’s not that simple. Our children’s hospital is a regional hospital and they will triage all potential patients to see if they will see them and how soon. A doctor has to refer to our children’s hospital. Then the department doctors go over the file and in our case called asking more questions. Only then were we given an appointment. My daughter has a rare tumor in her head so we weren’t trying to be seen about a cold, either. I am not saying this to discourage you. A children’s hospital is a good place to go but just be aware that there is a definite protocol. (I don’t know if all children’s hospitals work the same way so the best thing to do is to call and ask. )

 

Yes, this. We could go to the ER at Children's-Oakland or Stanford Children's but if it wasn't a true emergency, they would send us home. Our pediatrician is affiliated with Children's-Oakland so she'd be the one to make any referrals there. Our neurologist is affiliated with Stanford Children's so that's where she makes her referrals.

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Just look at the suggestions in this thread. I don't think any two of us have suggested the same thing to look for, though we all agree that this set of symptoms is alarming. (Which makes me think that whatever it is is going to be a beast to diagnose. *hugs*)

 

I suggested seeing an audiologist but one of the potential causes of hearing loss is (unfortunately) a brain tumor. My DD had to get a brain MRI to rule that out as cause of her specific hearing loss.

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Yes, this. We could go to the ER at Children's-Oakland or Stanford Children's but if it wasn't a true emergency, they would send us home. Our pediatrician is affiliated with Children's-Oakland so she'd be the one to make any referrals there. Our neurologist is affiliated with Stanford Children's so that's where she makes her referrals.

Very good point to check where they make referrals.

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Agreeing with the others that she needs to be seen asap. Can your primary order a stat mri? I know ours can.

 

Brain tumor could fit. Tethered cord and/or mitochondrial myopathy might fit as well but you need to rule out others first.

 

Mito can cause regression and periods or better and then worse times.

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It's good that your Mama radar is pinging that something is not right.  

 

What about your daughter's head circumference?  Have you measured it (or anybody else) and noticed any changes?

 

Sometimes an ophthalmologist can diagnose brain tumors from examining the back of the eye and optic nerve?  Have her eye exams been normal? (Has she had one say for Kindy?)  

 

Keep a symptom diary.  Write down everything you can think of, changes, etc...and now start keeping it current. 

 

Time to be the squeaky wheel.

 

On Monday, call the current neuro, let them know about the change in symptoms concerns, and ask for an MRI that week.  Ask for any cancellations, etc.  If you have trouble, call your pediatrician, explain the issue, and ask whomever schedules referrals to advocate on your behalf.  Also ask them to call the teaching hospital for a referral.  

 

If you cannot get through to your pediatrician, go to the office, sit in the waiting room, and ask to speak to Dr. X for 5 minutes.  

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I don't think HSP has a backwards moving cognitive dysfunction does it?

 

 The increasing pigeon toe is odd and I have this problem, especially walking downhill.

Strangely enough - the super tired sounds auto immune neurological, and if so, then that means the sooner it's sorted out, the sooner something like IVIG or antibody therapy might work for her.  The pigeon toed gait I do have as well as the cognitive issues with spelling, reversing, etc. that I've never had in my life and, currently, specialists think auto-immune related neurological, so I hope that's somewhat encouraging.  

 

If you look at (and measure) her calves - are the same size? "Dent" in either?  Are her reflexes normal - hyper or hypo?  The gait - is it because one side is dragging/dropping?  Like she lifts one of her hips?

 

My experience with neurology?  Get referred to a university hospital unless you're close to the Cleveland Clinic or a Mayo. 

Because, while you may like your neuro, I really think this is not something he can throw a dart at and shrug.  Not with auto-immune neurological stuff because there CAN be help and time really is relevant.  

 

The incontinence thing is usually fairly specific to different neuromuscular diseases. I know it can be part of MS and you'd want an MRI.   Juvenile MS does exist and I suspect the symptoms are very close to what you are describing?  

 

The physical therapist did a bunch of measurements in December - she didn't say anything about different sized calves (or anything else asymmetrical..I did specifically ask at that point).  She has tightness in her dorsal flexion (struggles with lifting her toes and walking on her heels); weakness is greater on the left side of her body.

 

The physical therapist said the leaking could be due to the general core weakness, which would include the pelvic floor.  But her feet are getting so, so much better; you'd think the other issues would improve along with them.

 

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Just skimming what the other ladies wrote...

 

Does PANDAS make any sense? Has she had strep?

 

Edited to add: wapiti has posted a lot about PANDAS in the past. Maybe PM her?

 

 

This is similar to PANDAS, but it isn’t caused by strep (it’s called PANS)...

 

http://www.pandasnetwork.org/understanding-pandaspans/what-is-pans/

 

Hugs to you and your daughter. I hope you’re able to find answers soon.

 

No strep at all.  She's only ever been on antibiotics once, for an ear infection as a baby.

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Just making sure...she is on no new medications, right?

 

Bc my DD has had some of those symptoms when her seizure meds were too high or she was on meds that just weren't working for her.

 

No new meds.  Zyrtec and Singulair most of the year, but we haven't put her on them yet, as she's not super itchy until spring is in full swing.

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I agree that she should be seen ASAP and I would do an MRI. 

 

Your family doc can order an MRI. The sticking point around here is that it can be hard to get one quickly if the kid needs sedation. At your daughter’s age, she might need sedation just because it’s hard for that age to hold still for a long time and it’s scary. But even then we can usually call and push to get one done soon if we think it needs to be. A CT is a quicker option because no sedation but it is not 100% for tumors. You can miss posterior fossa tumors on a CT. So a CT can help, but an MRI is preferable. 

 

I agree that if you cannot get your doc to see you earlier and order a test, then going into the ER is an option. Even if you don’t get a test done then, often they will set you up with a follow up appointment with a neurologist and that might be quicker than you would get on your own. But really this is something your doctor should do for you...order the test and call a new neurologist to get you her in ASAP. 

 

I would say also that it most likely is NOT a tumor...and there are lots of other tests I can think of doing. But the most crucial thing to rule out would be tumor or something structural and I would do that before thinking about testing for things like PANDAS. 

 

 

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What was happening with her immune system before the time when you first noticed symptoms? Any illness or infection? Any antibiotics, medication or vaccines? Any special insect bites? Any changes to her diet?

 

Has she developed any sensory sensitivities? any sensitivity to noise, touch, bright lights, increased pickiness with food, increased appetite? Increased fear?

 

Have there been any changes to bowel movements? Any rashes or skin problems? Any new allergies or sensitivities?

 

Have you checked her for seizures?

 

Any new night waking?

 

Has she noticed what is happening to her or expressed anything about it?

 

She had a 36-hour pukey virus in early December; two days of 103 fever and feeling cruddy in late January.  No antibiotics.  In the past seven months, she's had vaccines for MMR, TDaP, and polio; these were her first vaccines.

 

She's got allergies (showed positive to at least two in every category they tested for), and some we can't figure out, so she carries Epi-pens.  Mostly she gets very itchy, including lips and tongue, or ends up with a pinprick rash over her body.  She gets a daily slather of Cetaphil cream for mild eczema.  Winter is usually easier on her, and she hasn't been taking any allergy meds.  She does not handle Benadryl well.  We've had a some warmer days lately and she has been itching her face more, as well as getting some spots around her mouth and hands that randomly show up.  She hasn't had the spots in several months, but just had some show up within the last two weeks.

 

 

 

This child does not usually complain about physical stuff, in part because she does not like going to the doctor.  She denies that she is leaking at all.  And she is more focused on being stronger and walking better because of physical therapy.  She hasn't seemed to notice any issues at school (the ones the teacher pointed out). She has mentioned lately that her stomach has been hurting - either it's so empty it hurts, or she eats and then it's so full it hurts -the amount hasn't really changed though.  I'd been chalking that up to her not liking what was offered, but if she wants to munch on carrots or tomatoes later, I let her.  She said yesterday that she's been burping all the time.

 

How do you check a child for seizures?  I've been trying to pay attention, but honestly don't know what I'm looking for.  She never seems confused or disoriented.  She isn't losing consciousness.  I've been snuggling her to sleep because she's been asking me to, and all seems normal when she's drifting off.  She doesn't wake up needing me at night.

 

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Agreeing with the others that she needs to be seen asap. Can your primary order a stat mri? I know ours can.

 

Brain tumor could fit. Tethered cord and/or mitochondrial myopathy might fit as well but you need to rule out others first.

 

Mito can cause regression and periods or better and then worse times.

 

Tethered cord was ruled out by MRI.

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