Being referred to a neurologist, what do I need to prepare?

[Dobela]

Today at her well child check up dd4 was referred to a neurologist. Since it will be at the Children's Hospital it may actually take us months to get an appointment.

 

For the background - she was born at 26 weeks, weighed under 2 pounds, and several health problems that seemed to resolve. While she has done wonderful considering that rough start we still have some concerns. Mostly she is not meeting gross motor milestones even with PT and it is interfering with her interactions with other kids because she can't keep up physically.

 

What questions should I be asking or prepared to answer? What should I expect at an initial appointment?

 

Any help would be appreciated.

Edited April 14, 2011 by Dobela

[PeterPan]

We had a ped refer us to a neurologist. It didn't take long to get an appointment. After the nurses had gone through the system and made the appointment (which I DIDN'T like), I called back and talked extensively with the nurse at the neurologist's office. She answered all my questions about what they would be doing, looking for, where they would refer for more testing, etc. In our case, I decided not even to go. (We're low tone and they were just going to use her as a pin cushion, with no actual change in what we do, no thanks.) But if you talk with the nurses at the new doc's office, they should be able to answer all your questions. Remember too you can find another doc on your own, a doc elsewhere that specializes in your dd's problems, and then get the doc to write the referral to that one.

[Dobela]

I just don't know what to expect, or even if this is what we should be doing. Last year the growth and development specialist wouldn't do anythign because he didn't want to sedate her. Some of her movements remind me of someone with mild CP.

 

I guess I am still wondering if this will be beneficial enough to go thru with. Ha! Listen to me, usually I am the one telling folks that diagnosis helps. I don't know - if this isn't going to lead to somethign that will change treatment or give us a better understanding of her... Then why go?

[rafiki]

.

[peacefully]

I'm not sure I have anything helpful to add, but my dh (primary care physician) insisted that we get a pediatric neurology screen after we received the neuropsychologist report and the SPD diagnosis from the OT. The neurologist found absolutely nothing that warranted further testing, and based solely on our descriptions of ds's behaviors, she shrugged, saying that some kids are just quirky and she sees a lot of that. I was a little peeved because, while the neurologist was supportive of homeschooling, she was perhaps the most condescending health care practitioner I have ever met (this is saying something).

 

My own personal annoyances aside, my dh was relieved to have obtained the screening. He kept saying that we don't know what we don't know and that motor issues can often be the first sign of degenerative conditions, heavy metal toxicity, and who know what else. At the time, I was hugely annoyed and skeptical, but now, I suppose that the lack of a diagnosis from the neurologist is a relief.

 

I have no suggestions or further information, but I just wanted to share and offer my support for whatever decision you make. :001_smile:

[sheryl]

I was going to mention what yllek did and that is to make sure you get a "pediatric" neurologist, not adult.

 

On paper, BEFORE you appt write down your: observations, milestones, strengths, weaknesses, delays, concerns, etc.

 

As a Mom of a dd with controlled epilepsy, that's what I did. And, after a time they gave me charts to record data....whatever it was.

 

You should be familiar with all neurological conditions and read up on them. However, bearing in mind that many conditions "share" the same symptoms and diagnosis can be made in error, correctly, delayed, changed, etc.

 

For instance, the first ped n we went to said dd had this type of seizure. Then a few appts later she changed her mind and said that she was changing her mind and dd had this kind of seizure back in 2007. And, we've come to find out that seizure types can "evolve" from one kind to another in a course of time.

 

Then, I would acquaint yourself with tests and procedures for those neurol. conditions, so you will have some knowledge beforehand what may be expected....for your sake and that of your dc.

 

When you are at the drs office.....TAKE NOTES! It irks me the medical establishment is moving to "non-paper" for records. I can not tell you enough that when that happened, we started encountering problems....not exact dates of my dd's eegs, etc.

 

Buy a folder and go in prepared to take notes AND keep dates of procedures/tests. It can be overwhelming and alot of work, but better to be safe with reliable info than sorry.

 

A neurol office is BUSY. You may not see alot of patients at one time, but they have TONS of patients b/c there are alot of n based conditions.

 

I'm not wanting to cause panic, but we've been traveling this road for over 4 years. There are others on this board who have n themselves and/or dc with n conditions. Hopefully they will chime in.

 

:grouphug:

 

Oh yes, don't be afraid to ask questions.

[PeterPan]

I'm not sure I have anything helpful to add, but my dh (primary care physician) insisted that we get a pediatric neurology screen after we received the neuropsychologist report and the SPD diagnosis from the OT. The neurologist found absolutely nothing that warranted further testing, and based solely on our descriptions of ds's behaviors, she shrugged, saying that some kids are just quirky and she sees a lot of that.

 

Yllek, isn't your ds low tone? Did she discuss that at all?? That's why we were being referred, and there actually are genetic causes of low tone, accompanying disorders, problems down the road that accompany low tone, etc. This lady may have totally missed the ball. I'm not saying you should get all freaky or even go back. I'm just saying the lady may have missed doing what some others who know more about mitochondrial disorders, low tone, etc. would have done. The neuro they wanted to refer us to does quite a bit with mito and would have done a fresh sample biopsy, done testing to determine the extent of the tone issue, etc. I had told dd we wouldn't do that, that I wouldn't let them use her as a guinea pig. We can see the extent of her tone issues, and that's good enough for us. But definitely there are issues there to be read about and discussed, and sometimes they can do things like taking carnitine and get the tone to improve. It's at least worth reading more about.

 

When I tried carnitine with her, something happened, I forget what. Whatever it was, we decided to stop taking it. However some others with tone issues take carnitine and actually get improvement. To me, and this is just me and my reading, I see this little funny circle where you have symptoms (low tone, apraxia/dyspraxia, etc.) and you have this metabolic process with fats (the thing we're using for the apraxia/dyspraxia, the thing they seem to need more of) helping carry stuff for the whole ATP/carnitine/mitochondrial thing. I'm getting my biochem mixed up now, because it's been several months since when I was reading it. Anyways, it's an interesting little connection to me, the overlap between the fats problem and the tone/carnitine/protein digestion.

[Dobela]

Yllek, isn't your ds low tone? Did she discuss that at all?? That's why we were being referred, and there actually are genetic causes of low tone, accompanying disorders, problems down the road that accompany low tone, etc. This lady may have totally missed the ball. I'm not saying you should get all freaky or even go back. I'm just saying the lady may have missed doing what some others who know more about mitochondrial disorders, low tone, etc. would have done. The neuro they wanted to refer us to does quite a bit with mito and would have done a fresh sample biopsy, done testing to determine the extent of the tone issue, etc. I had told dd we wouldn't do that, that I wouldn't let them use her as a guinea pig. We can see the extent of her tone issues, and that's good enough for us. But definitely there are issues there to be read about and discussed, and sometimes they can do things like taking carnitine and get the tone to improve. It's at least worth reading more about.

 

When I tried carnitine with her, something happened, I forget what. Whatever it was, we decided to stop taking it. However some others with tone issues take carnitine and actually get improvement. To me, and this is just me and my reading, I see this little funny circle where you have symptoms (low tone, apraxia/dyspraxia, etc.) and you have this metabolic process with fats (the thing we're using for the apraxia/dyspraxia, the thing they seem to need more of) helping carry stuff for the whole ATP/carnitine/mitochondrial thing. I'm getting my biochem mixed up now, because it's been several months since when I was reading it. Anyways, it's an interesting little connection to me, the overlap between the fats problem and the tone/carnitine/protein digestion.

Ok, OhElizabeth. I need your educational help apparently about low tone. When dd qualified for PT, OT, and speech last year all 3 told me she had low tone. It was the first time I was told this although she briefly had PT and speech when she was about 1 year old. I am so tired this morning after the storms last night that I can't quite articulate my question thuogh :glare: Just start me from the beginning.

[Dobela]

Answers in living color ;)

I was going to mention what yllek did and that is to make sure you get a "pediatric" neurologist, not adult.

We are being referred to the Children's Hospital. Hopefully it will be a pediatric neuro. My ped has to submit a referral and all kinds of papaerwork first so I don't have a name to go by yet.

On paper, BEFORE you appt write down your: observations, milestones, strengths, weaknesses, delays, concerns, etc.

ok, been doing that.

 

As a Mom of a dd with controlled epilepsy, that's what I did. And, after a time they gave me charts to record data....whatever it was.

 

You should be familiar with all neurological conditions and read up on them. However, bearing in mind that many conditions "share" the same symptoms and diagnosis can be made in error, correctly, delayed, changed, etc.

See, there I don't know where to begin with this. Other than her leg turning out since she was an infant and unusual arm positions and movements when running that are not correcting...

 

For instance, the first ped n we went to said dd had this type of seizure. Then a few appts later she changed her mind and said that she was changing her mind and dd had this kind of seizure back in 2007. And, we've come to find out that seizure types can "evolve" from one kind to another in a course of time.

 

Then, I would acquaint yourself with tests and procedures for those neurol. conditions, so you will have some knowledge beforehand what may be expected....for your sake and that of your dc.

 

When you are at the drs office.....TAKE NOTES! It irks me the medical establishment is moving to "non-paper" for records. I can not tell you enough that when that happened, we started encountering problems....not exact dates of my dd's eegs, etc.

 

Buy a folder and go in prepared to take notes AND keep dates of procedures/tests. It can be overwhelming and alot of work, but better to be safe with reliable info than sorry.

:) I have one of those expanding ones from when she was an infant and we went thru over 150 appts her first year :)

 

A neurol office is BUSY. You may not see alot of patients at one time, but they have TONS of patients b/c there are alot of n based conditions.

 

I'm not wanting to cause panic, but we've been traveling this road for over 4 years. There are others on this board who have n themselves and/or dc with n conditions. Hopefully they will chime in.

 

:grouphug:

 

Oh yes, don't be afraid to ask questions. :D Shy I am not.

Thank you.

[PeterPan]

Dobela, there are degrees to everything. When you have CP, you have much more dramatic and extensive low tone than what my family is dealing with. I assume there are also differing causes. Our type of low tone appears to be genetic. I really know nothing about CP, so I can't help you.

 

You may be more happy with the Children's Hospital doc than you anticipate. I didn't think the one they found for us was a bad choice at all. She actually does a lot with the target problems. You can do some research by googling the problem you think you have (CP, whatever) and your state to see who the popular doctors are for it. Then when they get you the name of the doc they're suggesting you go to at your CH, google him and see what his specialties are and what you think. Call and talk with the office about what they do, how they do things, the demeanor of the doctor, whatever is important to you. Then you can make your informed choice, kwim?

 

I know it's hard to wait. They'll have you some answers soon though. Ours took a week or two I think.

[rafiki]

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[PeterPan]

Michele, remind me what carnitine product you're taking?

[rafiki]

.

[peacefully]

This is just one of many articles out there on Muscle Tone and Nutrition.

http://devdelay.org/newsletter/articles/pdf/356-how-nutrition-impacts-muscle-tone.pdf

 

I don't think this "circle" is coincindence. They have to be co-morbid or related, IMO. L Carnitine helps me, no doubt and I am diagnosed through a muscle biopsy as low tone. When my kids have their next allergy bloodwork drawn, I want them to also check their L Carnitine levels. My other concern is with the multiple food allergies, slow growth, and EE likely that there is a mitochondrial issue. We've been to the dietician, whom reviewed everything, said my kids are eating the right foods and right amount of them, but there appears to be an absorption issue. We've had too many doctors look at parts and not the whole child.

 

Oh man! Reading that symptom list is making me freak out a little. Ds doesn't have all of those issues, but he has most. :(

 

I'm seeing another huge area that I'm going to have to research.

[PeterPan]

Just throwing this out here... What has been really curious to me is to see the differences in degree of tone problems. My nutritionist maintains it's due to protein digestion, and that the more you rebuild digestion the more the tone can improve. I don't know. There are definitely inconsistencies in what they say. For instance John Hopkins says it's due to a slow neurological response that never fully expands or contracts the muscle. Well if that's the case, then why is the neuro response slow?

 

I just keep looking for an actual explanation that makes sense. My dd clearly has looser joints than mine, and I know someone else who's even looser and lower tone. Not all the way to CP, but much lower tone. So it's all curious. It's not like it's an on/off, yes/no thing.

[peacefully]

I personally don't see a big discrepancy between what your nutritionist and John Hopkins are both saying. Proteins are how our bodies obtain amino acids, which are vital in the production of various neurotransmitters.

[PeterPan]

I'm chewing on that one. Amino acids are important for neurotransmitters? Do you realize how big a connection this is? (If you're right I mean.) See there's this product, Nutriveyda, that is heavily promoted on a yahoo group I'm on for verbal apraxia. It has all kinds of amino acids and is said to give big boosts in speech. But there's just enough of that testimonial quackery and lack of research that you never know exactly why it's working or whether it's incidental or what. But if amino acids are important in the production of neurotransmitters (the ones our kids need for speech, muscle control, etc.), that's huge.

 

Back to your regular channel.

[PeterPan]

Ok, I just googled this, and amino acid neurotransmitter turned up a ton of hits. You need to start talking some more. Tell us what you know.

[sheryl]

Answers in living color ;) Thank you.

 

 

Deb, It "may" depend on the diagnosis if an adult neurologist is acceptable. However, at least for epilepsy (are you concerned she may be having seizures or another n condition?), I can.not.stress.enough how much you would behoove, your dc will behoove, by going to a pediatric neurol. Neurol "looks" differently (at least epilepsy and if you're not concerned that it is ep then it may be a different issue) with ped patients compared to adult patients. Hopefully A will jump in here. She's the go-to neurol woman on this group. :001_smile: :001_smile: Truly she is a very wise and knowledgable woman regarding neurol issues.

 

Again, there are many different types of n conditions....read up.:grouphug:

Edited April 16, 2011 by sheryl

[rafiki]

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[Dobela]

Deb, It "may" depend on the diagnosis if an adult neurologist is acceptable. However, at least for epilepsy (are you concerned she may be having seizures or another n condition?), I can.not.stress.enough how much you would behoove, your dc will behoove, by going to a pediatric neurol. Neurol "looks" differently (at least epilepsy and if you're not concerned that it is ep then it may be a different issue) with ped patients compared to adult patients. Hopefully A will jump in here. She's the go-to neurol woman on this group. :001_smile: :001_smile: Truly she is a very wise and knowledgable woman regarding neurol issues.

 

Again, there are many different types of n conditions....read up.:grouphug:

I am not concerned about seizures, none noticed anyway. She doesn't seem to have any symptoms of any type.

[Dobela]

Ok, I just googled this, and amino acid neurotransmitter turned up a ton of hits. You need to start talking some more. Tell us what you know.

:iagree: Start talking more, please! This has opened a whole new avenue of thinking for me.

[peacefully]

I wish I knew more. A few years ago, I researched certain aminos for mild depression. I was taking 5-HTP, tyrosine, and GABA to shift my serotonin and dopamine levels. As I recall, there was quite a long metabolic cascade that started with proteins and enzymes, fatty acids, vitamins, and cholesterol and ended with the precursors and catalysts that synthesize the neurotransmitters that your body needs to regulate mood, memory, mental alertness and energy. I have no information at all about how neurotransmitters might specifically influence muscle tone. Michelle's article is the very first time I've considered the connection. But I was thinking that poor protein absorption will lead to a deficiency in aminos, which will hamper the production of the neurotransmitters that might be needed to regulate the neurological responses that govern muscle contraction.

 

If your nutritionist is saying that there is a digestion issue (bioavailability of aminos), that absolutely will affect neurological function, one way or another. I've always wondered if ds's issues are impacted by digestion. Remember the conversation about the GAPS diet? That diet was developed by a neurologist who maintains that compromised digestion can aggravate the symptoms of a whole host of neurological conditions (autism, ADHD, dyspraxia, etc.). Now iirc, her position is mostly that poor digestion leads to conditions that allow neurotoxins to cross the blood-brain barrier (I think???). A model of neurological function that looks at the bioavailability of aminos is going in a different direction, but yeah, digestion is always going to be a big component of brain function. [Editing to say that digestion isn't always going to be an issue. What I meant is that where there are these neurological learning issues, I would also look at nutrition/digestion].

 

Your google search is going to be as good as mine on this one. I will, however, get dh and some of his doctor buddies to help me decipher some of the medical literature as I continue to look into this. If I find anything interesting, I will be sure to share.

Edited April 17, 2011 by yllek
reason stated above

[peacefully]

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[peacefully]

Acetylcholine is also an important brain neurotransmitter and is thought to be involved in memory, learning, self-regulation, and organization of sensory signals.

[rafiki]

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[NittanyJen]

There are also genetic reasons that can tie together low muscle tone, dyspraxia (verbal and motor), anxiety, and a host of other issues, not all of which are present in each individual-- 1/500 live births are people who have one or more extra X or Y chromosomes. Only about 10-25% of these kids will be identified during childhood, which is a shame, because nearly all of them will ultimately have some type of reading-related difficulty, and the laundry list of other difficulties linked to this arrangement is pretty extensive, though pretty much all of them CAN be remediated with targeted, timely therapy and appropriate hormone replacement. (Yes, this applies to girls too-- a girl can have XXX, though XXY boys make up the largest part of the group; but there can by XYY boys, XXXY boys, XXYY boys; I'm not sure whether there are girls with more than 3 X's . . . very likely).

 

It is well worth a blood draw to get a genetic test if your dc falls into this group, as the issues are becoming increasingly well-documented among a subset of docs who are working hard at producing peer-reviewed studies-- it has been difficult until recently, because we are so bad at identifying kids young enough to be able to study large enough numbers of them. But a very simple FISH study can answer the question definitively regarding how many chromosomes your dc actually has (and the price is coming down every year, though it is still expensive).

 

One very good reason to go through with a test is to receive information on future health concerns to screen for; these kids go on to lead pretty normal lives, but with higher chances for certain problems (such as diabetes, autoimmune dysfunction, executive function problems that should be addressed early so they aren't a problem later, certain cancers occur more often in this population, vascular problems, dental problems, bone issues, potential need for hormone replacement, etc).

 

For more information, check out The Focus Foundation at http://thefocusfoundation.org.

 

Jen

http://hillandalefarmschool.blogspot.com/