White Matter in Brain?

[Jyniffrec]

A little bit of background: My 4yo dd has a rare genetic disorder called MCAD. It is a fatty acid disorder that causes her to go into metabolic crisis if she fasts (either from not eating or vomiting). She has been in the hospital 23 times - far, far more than what is expected. The doctor's notes say stuff like "surprisingly brittle". She has also always had muscle weakness - it is intermittent, though severe when it does happen (collapses while running, can't move when feeling ill). I have always questioned why this happens - it is supposedly not a part of her genetic disorder - but no one has wanted to touch it. The pediatrician, the geneticist, the GI, the hospitalists, and the residents I guess all think it doesn't fall under their umbrella.

 

So dd started having migraines in February. They come on suddenly and are severe and then suddenly go away (usually she falls asleep). Have you ever seen a migraine in a 4 yo? They are pretty terrible. So after it happened twice we took her to the pediatrician. She ordered an MRI which came back clean.

 

Well, today I was going through her medical records, scanning them in to the computer when I saw the MRI results. It said that she had an area of white matter that hadn't changed since the last MRI (that she had when she was infant). The person who read the results said to take action if it gets bigger. So after googling it (I know, I shouldn't do that) it turns out that white matter is associated with genetic disorders and can cause muscle weakness! I have never been told about the white matter, from either MRI.

 

So why wasn't I told? I know these doctors very well and we have very good relationships. I am really disappointed. There is always a good explanation for why things like this aren't brought out but this one just seems so obvious to me. I am calling the pediatrician tomorrow (she ordered the second MRI) and will talk to her nurse.

 

I have two medically complicated kids and this one seems to always fall through the cracks. She has a very good, loving team working for her (they know her out of thousands of patients and talk about how they used to hold her when she was a baby). I guess I'm just feeling confused and a little betrayed.

 

Sooo, does anyone have a kid with white matter in the brain that isn't associated with a degenerative disease? Do you mind sharing your experiences? What about these migraines that suddenly appeared? :confused:

[Starr]

:grouphug: I don't have any info but I'm really sorry. It sounds like it didn't reach their radar. :(

[kalanamak]

All human brains have white matter. MRIs might comment on "white matter changes" or "white matter infarcts" or "paucity of white matter" etc, but merely having white matter is normal.

 

There are lots of little quirks in brains, and such findings are called "nonspecific" and are often just watched.

 

:grouphug: I hope you can get more info from the doc. Where I am, the MRI radiologist will come out and talk to you about your findings. Can you call the office and see if you can meet with them? (They don't see most of their patients, and they are well paid, so don't feel like you are stepping on toes. Speak to the office manager, if you can, and explain your concern and say you'd like to speak right to the horse's mouth, just to make sure you are understanding everything correctly.)

[Jyniffrec]

All human brains have white matter. MRIs might comment on "white matter changes" or "white matter infarcts" or "paucity of white matter" etc, but merely having white matter is normal.

 

There are lots of little quirks in brains, and such findings are called "nonspecific" and are often just watched.

 

:grouphug: I hope you can get more info from the doc. Where I am, the MRI radiologist will come out and talk to you about your findings. Can you call the office and see if you can meet with them? (They don't see most of their patients, and they are well paid, so don't feel like you are stepping on toes. Speak to the office manager, if you can, and explain your concern and say you'd like to speak right to the horse's mouth, just to make sure you are understanding everything correctly.)

 

I was hoping you would post, kalanamak. :001_smile: Thanks for this insight. I will be calling tomorrow. I know that I can sometimes only see dimly from my side and that miscommunications, oversights, and misunderstandings are common in this game. I usually keep my mouth shut for those reasons but this one honed right in on my biggest worries.

 

Thanks again!

[Bang!Zoom!]

Can you get the Ped to refer you to a specialist in neurology? Any chance your insurance company can advocate a specialist for you?

 

From an experience here, I would still be uniformed had a member here not encouraged me to cancel the MRI scans to be read by a physicians assistant and take the short road to a Pediatric Neurology surgeons specialist. We saw Dr. Bauer in Seattle.

 

What kind of MRI is most recent, one with dye or without?

 

I see you have posted you are in Tennessee, maybe one of the moms out your way has a recommend for you?

 

You have serious questions that need resolved. I'm so very sorry for the pain she experiences.

[In the Rain]

No advice on white matter, just a big :grouphug:

[J-rap]

All human brains have white matter. MRIs might comment on "white matter changes" or "white matter infarcts" or "paucity of white matter" etc, but merely having white matter is normal.

 

 

Yes, this. All people have white matter in their brains.

 

I wonder if there are hospitals in your part of the country like Mayo Clinic in Minnesota. They work together like a team should, every department. They leave no stone left unturned. You go there and stay until they figure out your problem (or try to, anyway!). They line up all of your appointments in every department one after another, making sure to send each record from each appointment on to the next one, one step ahead of you, so that every doctor knows everything that is going on. They call each other and put their heads together to find the problem. If they need more tests they arrange them for that very day or the next (not in two weeks). It is quite an amazing place.

 

All the best to you and your family. I hope you can get to the bottom of it soon.

[Jyniffrec]

Can you get the Ped to refer you to a specialist in neurology? Any chance your insurance company can advocate a specialist for you?

 

From an experience here, I would still be uniformed had a member here not encouraged me to cancel the MRI scans to be read by a physicians assistant and take the short road to a Pediatric Neurology surgeons specialist. We saw Dr. Bauer in Seattle.

 

What kind of MRI is most recent, one with dye or without?

 

I see you have posted you are in Tennessee, maybe one of the moms out your way has a recommend for you?

 

You have serious questions that need resolved. I'm so very sorry for the pain she experiences.

 

I do need to consider this even if the white matter isn't a problem. We go to Cincinnati for her genetics care. Maybe I should talk to them about a neurologist. They were the ones who gave her a diagnosis of global developmental disorder and want her to go to their therapy center. While I know that diagnosis doesn't mean much necessarily, it does mean that the geneticist recognizes that there is something going on. He just added it on at the last appointment in March.

 

The report says that it was "w-o contrast" so I am assuming that means no dye.

 

I just noticed that the MRI does say that there is a small abnormality that was noticed on the previous MRI. It hasn't changed, although it is more easily seen now. I guess that is what I picked up on before that alarmed me. Sometimes I get jolts of shock when I pick up on something new and I don't pay close attention until I can clear my brain. :rolleyes:

 

So now the question is, are small abnormalities normal? Regardless something is going on and maybe it is time I bring everyone's attention to it again. Maybe something can get resolved this time around.

[LNC]

Hypomyelination can cause hypotonia. I think they are general issues that go along with many genetic disorders - maybe your daughter's disorder as well? Read about those two words. :grouphug:

[Jyniffrec]

Yes, this. All people have white matter in their brains.

 

I wonder if there are hospitals in your part of the country like Mayo Clinic in Minnesota. They work together like a team should, every department. They leave no stone left unturned. You go there and stay until they figure out your problem (or try to, anyway!). They line up all of your appointments in every department one after another, making sure to send each record from each appointment on to the next one, one step ahead of you, so that every doctor knows everything that is going on. They call each other and put their heads together to find the problem. If they need more tests they arrange them for that very day or the next (not in two weeks). It is quite an amazing place.

 

All the best to you and your family. I hope you can get to the bottom of it soon.

 

I hear people talking about going there because of their livers all the time (my other dd has liver disease) but I had never thought about it for this dd. I will look into it - thanks for the idea.

[Jyniffrec]

Hypomyelination can cause hypotonia. I think they are general issues that go along with many genetic disorders - maybe your daughter's disorder as well? Read about those two words. :grouphug:

 

Thanks for this. I will look this up. This area has always been somewhat vague for me but I think it is time to get more educated.

[Jyniffrec]

Hm...yeah I'd wonder the same thing. Then again it's empowering to know that you can figure stuff out despite other people's incompetence. KWIM? My younger son was born with a white spot on his eye. No doctor noticed nor said a word about it through any of the well baby visits. Finally I asked about it. The doctor had not noticed! It's not small either (in fact a stranger in a store came running across an aisle to ask if I noticed it...:glare:). He said he didn't know what it was and would get back to me. So of course I went home and googled for days. I finally figured out what it was. He called and said he didn't know so he referred me to a specialist. So I took my son there. The doc didn't know. He sent me to yet another specialist. He knew what it was as soon as he saw it. And it was exactly what I had found out myself. It turned out to be harmless thankfully.

 

I hope you get to the bottom of it. Sorry you are all having to go through this. :grouphug:

 

I had migraines as a young kid. I no longer get them anymore. They did an EEG on me (but never an MRI).

 

I do know what you mean. My other dd was first diagnosed by a close friend while we were waiting the 4 weeks to get in to see a specialist and she was deteriorating in front of our eyes. In the end it was the doctors that have kept her alive, but being educated before we went in was very helpful as we navigated all the choices we had to make.

 

The pediatrician wanted her to have a CT scan but we knew from previous experience that we should look into other alternatives because CTs have such high amounts of radiation. If she were a kid that would likely not face these kinds of things again I would have been okay with it, but we are careful with her. I never even though about an EEG - I had one for headaches when I was a kid too.