where to send for mri/cs to be read for a second opinion?

[Guest guest]

Hello! I'm the one who is waiting for a referel for my nephew and read on here

that many neurologists are unfamiliar with PMG and have difficulty " diagnosing "

it. I remember that someone mentioned that there is a place where a doctor will

give a second opinion if records are sent. We have very few neurologists in

Maine and I don't know how " good " they are. I also was wondering if there is

anyone from Maine on here so we can try to go to their neurologist. We are

willing to travel anywhere in Maine. Thanks!-

[Guest guest]

Hi ,

Dr. Dobyns is one of the Doctors that specializes in PMG, along with other brain

abnormalities like LISS and Microcephaly. We just saw him at a conference in

Costa Mesa, CA this past week. You are right that many, actually most, doctors

are not familiar with PMG. So thats why it is best for you to send your childs

records to Dr. Dobyns. If appropriate he will work with your local doctors to

have genetic testing done and also to get you involved in research studies,

mostly done through Walsh Labs in Boston but you don't usually have to travel to

them, they will send you the information of what they need and you can go to

your local lab. Or maybe just spit in a cup like many of us did at the FCM

Convention...I am not kidding, it was a great experience, NOT! But seriously, we

really spit in a cup to collect our DNA through our spit for testing. So

exciting!

It does take some time for Dr. Dobyns to be able to read your childs records so

I suggest contacting his office first. And then following up with whomever you

are told to contact and keeping on them. Call every few weeks to check on the

status, and if its taken more time then you think it should have then ask if

there is anything you can do to move it along. Let me know if you have any

questions.

Regarding looking for Neuros, I cant help you there since we have only ever

lived in Michigan but I suggest asking that question again on its own post.

Everyone is so busy that they may think, like I do sometimes, that others will

respond. But we all are so busy so ask away until you get some answers out of

the people on the group and go to other groups and ask as well, like CP and

seizure groups or the microcephaly group. Good Luck!

B. Dobyns, MD

University of Chicago

Department of Human Genetics

Email: wbd@...

Office Phone:

Info from: www.uchicagokidshospital.org/physicians/william-dobyns.html

Take care,

Jepson

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> Hello! I'm the one who is waiting for a referel for my nephew and read on here

that many neurologists are unfamiliar with PMG and have difficulty " diagnosing "

it. I remember that someone mentioned that there is a place where a doctor will

give a second opinion if records are sent. We have very few neurologists in

Maine and I don't know how " good " they are. I also was wondering if there is

anyone from Maine on here so we can try to go to their neurologist. We are

willing to travel anywhere in Maine. Thanks!-

>