Fireworks - a dazzling 'sign language' discovery

Yesterday evening, the 4th of July, we were
strolling through our neighborhood with our child,
Matthew, who was riding his bike - 3-wheel trike.
It was nearing dusk and excited kids were outside
with their sparklers and other fireworks.

We could hear the beginning pops, booms and
thunderous noises of fireworks during our walk.

At one point, while Matthew was riding his trike next
to us, I noticed that he made his right hand into a
fist (thumb sticking out) and raised his fist
straight up by his face (holding it tightly and
shaking his fist slightly). I haven't ever seen
him do that before and thought it was unusual.
But he stopped and went back to riding his bike.

Several more times, Matthew's raised shaking fist
went up in the air by his face. I got a little
concerned and wondered why.

Then all of a sudden it hit me that Matthew had made up
a sign for fireworks!!!

His raised shaking fist corresponded with each time
he would hear the noises of fireworks.

Matthew has Agenesis of the Corpus Callosum and
he is non-verbal. With the exception of a handful
of words, he communicates through a Dynavox V
communication device and through some sign language,
too.

BIG, beautiful fireworks were going off up in the sky
(a few streets away from us) that caught Matthew's
attention (and our's, too). They were spectacular!
Matthew was enthralled!

Between the few big booms of exploding colorful sparkles
against a darkened sky and the two groups of kids on our
street (to our left and right), busily putting on their
own show, we were right in the middle of a fireworks display
that we weren't even expecting.

As we headed home, I went straight to the computer
to look up the American Sign Language (ASL) sign for
"fireworks" because I didn't know the real sign for it.

Although I loved that he created his own made-up sign.

I wanted to know the real sign and I want him to know it, too.



My search for how to sign the word "fireworks" led me to
an awesome baby sign language website with free video
demonstrations that I want to share with you.

Check it out:

My Smart Hands-Baby Sign Language Dictionary

The Main website is My Smart Hands



They also offer My Smart Hands baby sign language dictionary app with over 300 signs as well as a few other apps available for your iPhone, iPod or iPad, for purchase at itunes.

You can also explore previous ACC blog posts regarding
other sign language resources:

Sign Language: My First Signs

Learn Sign Language - Baby See 'N Sign

Sign Language - Signing Time

Meet Kelley - An Adult with ACC

photo taken by Kelley on recent camping trip on a hike up Table Rock Mountain in South Carolina



"Hi, I’m Kelley and I currently live in North Carolina.
I was encouraged by Sandie to share my story, although
I don’t know how informative it will be for those looking
for ways to help their struggling ACC kids.

I first found out I had Complete ACC and a small Chiari I
malformation eleven years ago at the age of 35, after an
MRI was done because I was having tingling in my hands
and feet. The tingling was apparently partly due to the
nerve compression that can come with Chiari and was
successfully resolved with bodywork such as myofascial
release. I was deemed asymptomatic by my neurologist in
regards to the ACC.

I have been on a medication to treat a mild seizure disorder
since the age of 17. It was not until the diagnosis of C-ACC
that the likely reason for the seizures was determined. The
ACC probably also explains why I am left handed (at least
according to one doctor I’ve talked to).

I had no developmental delays as a kid. I attended
mainstream classes throughout school. In addition, I
took some classes geared to gifted and talented students
during high school. I got As and Bs in all of my classes
except math, where I got Bs and Cs. I also struggled with
the math-heavy science of physics. When it came to math,
I could learn and understand the lessons, but would not
necessarily retain the knowledge three months later. The
classes I loved most were English, history, science, and
foreign languages. I liked math and physical education
the least. As far as extracurricular activities, I played
clarinet for three years and was a member of the yearbook
committee and school astronomy club for a few years.

I went on to earn a Bachelor’s Degree in English and a
Master’s Degree in Library Science by the time I was 25.
I have been working in various corporate and academic
libraries ever since. I own a home, drive a stick shift
car, ride a bike, and recently completed training for and
running my first half marathon (13.1 miles).

I was a bookworm and a teacher’s pet through most of K-12.
I was very shy and easy to tease due to my curly hair and
my love of learning. This caused me to prefer the company
of adults from an early age. The serious-minded social
world of adults just made more sense! I am also the
child of a divorce and I think that impacted my early
self confidence around others. But I always had a few
very close friends in school. And I never had trouble
reading social cues. I’m sure there were plenty of times
when overall I felt excluded, different, and lonely.
But I learned to cope with the friends I had and make up
for anything missing by immersing myself in schoolwork
and reading.

I read a lot while growing up. I remember taking a
standardized test in 6th grade that measured reading
and math competency. I don’t remember what my math
score was, but I tested at a 12th grade reading level.
While I may not have had as many friends or social
outings as I’d have liked in grades 7-12, the worlds
of JRR Tolkien, Charles Dickens, James Michener, and
many others, kept me pretty satisfied.

I was an only child until the age of 11. I sometimes
wonder if I would have been a little more adept socially
if I’d had an older sibling to learn from. Most of the
other kids at school seemed so immature that I reached a
point as a preteen where I just didn't bother to try to
associate much with them!

The three very good friends I had in junior high and high
school are people I still have some contact with today.
And I also keep in touch regularly with my two closest
friends from college.

For any ACCer or the parent of one who has challenges
with social skills, my best advice is just to observe
and practice those skills until they become easier. As
I stated earlier, I was shy and introverted growing up.
I didn't always know what to say to people. But I had
the good fortune to date a very extroverted man for
several years in my 20s. He would turn to strangers
sitting in the next booth at a restaurant and ask them
what they thought of some current, newsworthy event.
I watched him have many fascinating conversations and
make new friends and acquaintances using this technique.
I asked him how he had the courage to be so open, because
sometimes the stranger(s) he addressed would just give
him a rude look and turn away. He said he never took
these rebuffs personally and always looked forward to
what the next new conversation might bring. I more or
less picked up this same attitude and now really do
enjoy interacting with strangers. But I still consider
myself an introvert, because to recharge my mental energy
I need to spend quality time alone.

I am not married and have no children, but I have had
half a dozen healthy, long-term relationships. I have
been dating a wonderful man for a year now and am very
happy. While I currently live 2,000 miles away from my
parents and extended family, I keep in good touch with
them through regular phone calls and visits home a few
times each year.

My ACC has not been a defining element of who I view
myself to be. I am a little clumsy in that I brush into
walls sometimes while rounding corners or stumble over
my own feet. But I accept the bruises that occur. I
have a relatively serious and rational outlook on life
which gets me impatient when I'm hanging around anyone
whose only interest is joking around. (Don't get me
wrong - I love and cherish humor, especially British
comedy!) I have a poor sense of direction. But patience,
maps, asking for directions, and/or using a GPS unit
always eventually get me where I want to go. Excessive
multitasking mentally wears me out, but I make do. Are
any of these traits related to my ACC? Maybe. Maybe not.
I am not convinced that they are because plenty of people
with ‘complete’ brains have similar issues.

I met a few other adults with ACC issues at a conference
a few years ago. The one trait that I seemed to share
most with them was a tendency to ramble while having a
conversation. My conversation style is not succinct,
but rather very stream of consciousness oriented. I
can tend to verbalize tangential information that is
not of immediate relevance to the topic at hand, so it
may take me a while to get to a point! This trait
sometimes gets my family, friends, and boyfriend
frustrated. But for the most part they have learned
to adjust to it. But is this characteristic attributable
to ACC? Again, I do not know for sure. Before meeting
the others with ACC, I thought I communicated that way
due to all of the long-winded 900 page Victorian novels
I read when I was young!

My passions include reading, hiking, travel, and being
a lifelong learner. It is important to grow personally
and professionally throughout life and I endeavor to do
that!

I hope my story will at least demonstrate to people that
ACC comes in many shapes and sizes. I do not know why I
have no obvious deficits. One ACC researcher I talked to
at a conference asked me about my family background.
After I filled him in, he determined that my high
functionality was due in part to being raised in an
environment with a lot of intellectual activity and
stimulation. Yes, all of that was encouraged in my
family, but I know that there are additional pieces
to the puzzle that may never be clear."


I am thrilled that Kelley contacted me because her
story IS very interesting, worthwhile and helpful.

Many parents who have a child with ACC are told by the
doctors (myself included) that there are people out there
leading 'normal' lives who are not affected by ACC - who
may not know they are missing their corpus callosum.

As parents we hear about this possibility but seldom are
able to see it backed up with the reality. However,
thanks to Kelley...she has made this truth very real.

I am grateful to Kelley for contributing her personal
ACC story and making it available here on the ACC blog
for others to read. Thank you very much, Kelley, for
taking the time to touch the lives of other people.

If you want to leave a comment for Kelley I am
sure she would appreciate hearing from you.

If you are an adult who has ACC or a corpus callosum
disorder, do you want to share your story?

Each person is unique. Every story is welcome and
every story is worthy.

I would love to hear from you. Please send me an e-mail

Considerations For Educators of Students With ACC

“Considerations For Educators of Students With ACC”:

Mr. McCallum wrote this document. He is a teacher
who taught a child with Agenesis of the Corpus
Callosum in his classroom. He offers detailed and
valuable information.

If you would like to receive a copy of
“Considerations For Educators of Students With ACC”
sent to your e-mail please send me an E-Mail request.

In your e-mail it is helpful to know if you are
a parent or a teacher requesting the information.

Meet Abbie - An Adult with ACC

Abbie and her dog, Scout.


Abbie's Story:


When did you find out that you have partial ACC? How old?

"I think I was probably told about it when my parents found out,
which was through an MRI when I was about 2. The doctors were
actually looking for something more life threatening when they
found it, so they didn't take much notice or act on it. I didn't
really start to feel any different from others or notice until
I was about 8 or 9. I was also diagnosed with congenital
panhypopituitarism and absence of pituitary gland."


What did you struggle with in school?

"Being a shy one and not looked up to or noticed much by other
students, not knowing what to say when other girls did talk to
me did not help this. The fact that the teachers and students
thought I looked fine and coped so well, so they didn’t always
believe I needed extra help and understanding."


What did you enjoy most and do well at in school?

"I was always very organized, otherwise I was not able to keep
up and got anxious and stressed. I was always waiting for a big
load to come that I would struggle to keep up with, but it never
did because I worked really hard, maybe a little too hard and
managed to keep up more then some of the other students. And I
completed my VCE (Victorian Certificate of Education), which I
did’nt think I would be able to do many time during my years at
school, because it was hard."

VCE is the certificate awarded to secondary students who complete
high school studies Year 11 and 12 or equivalent in Victoria, Australia.


Did you struggle with social skills in school?

"In primary school I don’t remember struggling much. Since I moved
to the city from a small community and started high school, I have
never had the same kind of friendship/s I had in primary school. I
feel anxious and awkward all the time when having to talk to people,
I sit for a long time without saying anything because I can’t think
of what to say to match the situation, I get exhausted after spending
time with any friends. I have a couple of anallergies that may help
people with a DCC out there.

1. Socialising for me is like standing on the side of a wide,
busy road with cars going both ways. You have to get across the road
with no traffic lights, then when you finally get to the other side,
you have to turn around and cross back over the road again. Do this
over and over a few times and you will discover it is physically and
mentally exhausting. This is what socializing feels like for me.

2. When you feel exhausted from being with people and socializing,
or crossing the busy road over and over again, your body and your
brain becomes like a torch with a flat battery. It still has a
little light left and can put on an act and work a little bit,
but eventually the light goes out and it can’t work any more.
An ACCer’s or DCCer’s brain cannot work as fast and as long as
a person with normal brain connection, because they have to work
twice as hard to keep up with everything, therefore, we get tired
quicker and things become harder then they may really be.
Depending on how much work my torch has had to do is how much
I can put into socializing and how how normal I can act. More
often then not, this is not very much. I hope this makes sense
to people, it was a bit hard to explain."


Did you make friends easily in school?

"Not at high school. I had a couple of friends but talking and doing
things together was always very awkward and hard to organize. Our
families and upbringings were very different and I had nothing in
common with them. I never had the courage or the no how to mix
with others and make other friends, so I stayed with the 2 I had
and in the end did not continue contact with them. I am still on
the search for how to make friends and who to make friends with,
but in 7 years, now at Uni in adult education, I still feel I am
not getting anywhere. I have a couple of friends who I hang out
with one at a time, but am not really connecting with them and
often don’t enjoy spending time with them because it is too
awkward. They also have their own issues with how to socialize."


Do you still struggle today with social skills as an adult?

"Yes. I am not really sure what else I can say without repeating
myself. I could go on forever but it might get confusing, because
I am confused about the whole issue myself."


Did you attend a mainstream classroom?

Yes. All my schooling was mainstream. I repeated my last year of
primary school (grade.6) because I wasn’t ready emotionally to go
into high school yet."


Did you receive Special Ed resource help?

"I did receive some extra assistance in primary school when I got to
grade 5 or 6 and still could’nt tell the time or count money. I had a
modified subject load in the last 2 years of high school, was in
classes where the teacher gave extra assistance, had extra free
study periods where I went to receive one on one help from special
needs teachers and was granted one on one tutoring during my last
year of secondary school for exams and big loads of work. When I
was away from school I received a modified load of work to catch
up on when I returned and restrictions on how much time I was to
spend, otherwise I never stopped working."


Can you ride a bike and drive a car?

"I have a bike I bought 6 years ago but have only ridden about twice
because I can’t navigate small spaces and people. I do not and
probably will not drive"
.

Did you attend college? Did you get a degree?

"I have just started my first proper course of study of certificate IV
Liberal Arts, after finishing year 12 in 2009, I needed a brake year to
fill in some gaps to find some interests, socialize a bit more and
improve my life skills. I did a certificate I course of transitioning
from high school to other options in life, and am choosing to continue
my study for as long as I can."


What specific life skills are challenging for you?

The basic every day life skills I am working to improve are simple
things like getting anywhere on my own on public transport, as I
won't be able to drive for a while yet, if ever. I am aiming to
eventually use public transport as if it were my car (though it
will always takes a lot longer then driving) I also need to improve
my verbal communication skills- being myself and not being affraid
of my difficulties, being less awkward when talking to people and
the biggest thing of all, taking things as they come in a conversation
and not worrying so much about what I can say next. I am also on
the search for an interest and something I can do for enjoyement,
because everything I am doing at the moment is things I HAVE to do
like studying, appointments and jobs at home. I need something else
to do with my time that is regular and fun."


Do you have a job and if so what do you do?

"No job. Focusing on study."

Are you married? Single?

"Single. Never been in a relationship. Would like a close guy friend to
hang out with and be comfortable with talking to, but not ready for
anything more."


Do you have children?

"No"

How does ACC affect you today as an adult?

"Socially, stressing too much about things most people don’t worry
about, feeling nieve for my age, feeling too dependant on others,
being behind in life experiences. Not being a relaxed person."


What do you enjoy doing the most in life?

"Watching movies. Watching a movie screen, though not good to do
too much is good. It takes away tension when being with someone
else because you don’t have to talk. It is relaxing and fun. It
means you don’t have to think about anything for a couple of hours."


What are you passionate about?

"Finding a friend or a group of friends I can keep who I want to be
with. Finding something am interested in and enjoy doing that I can
stick to and be productive with."


Abbie, P-ACC, 20 years old, Australia.


It is an absolute privilege to be able to include Abbie's story
here for you to read.

Thank you very much, Abbie. It was a pleasure to exchange
e-mails with you and get to know you a little better. I
appreciate your openness, your honesty, the way you let me
know your thoughts and how you expressed yourself. I
enjoyed communicating with you.

It is my hope for you, Abbie, that you will see all of the
beautiful things about yourself and your abilities because
you are an amazing person who has already accomplished big
goals.

Be your very own sweet, unique self and believe in all of
the possibilities. I know and believe with all my heart
that you WILL discover an interest that you are passionate
about and it will be soothing, relaxing and lots of fun.

If you want to leave a comment for Abbie I am
sure she would appreciate it.


If you are an adult who has ACC or a corpus callosum
disorder, do you want to share your story?

I would love to hear from you. Please send me an e-mail

ACC & Moms-To-Be Story #10

I am so thankful to all of the Moms who want
to tell their story about being pregnant
and having a baby with Agenesis of the
Corpus Callosum.

Each story is as unique as each child who has ACC.

I received an e-mail from Shea, the Mom of Levi,
who expressed a desire to share her ACC Pregnancy
Story here for others to read.

Thank you very much, Shea. It is a
privilege to post your story and I thank
you from my heart for your willingness to
help other people through your own
personal pregnancy experience.



Written by Shea:


Levi's Story

We were so excited to be expecting our 3rd baby in the
summer of 2010. Originally due September 6th we were
going to keep it a "surprise" and not find out the sex
of the baby. At my 30 weeks ultrasound we expected it
to be like all the others, easy and routine. My
husband was with me and after just a minute of looking
the tech told us the baby was breech. Having had 2
babies prior I knew that this sonogram shouldn't take
too long but after several minutes I began to get a
little nervous. I knew from the baby being breech that
she was taking a lot of time studying the baby's head,
or at least where I assumed the head was since she had
pointed it out to us on the screen. After 10 minutes
I even looked at my husband and gave him a "look".
I just knew something was wrong. A few more minutes
and I asked, "Is there something wrong?" She said she
wanted to take her time because she had never seen me
before and apologized for taking so long. A few minutes
later I started crying and without saying anything she
patted my hand and told me to try not and worry but that
she did have some concerns and wanted to go and get the
doctor. MY WORLD STOPPED! We still didn't understand
and because she wouldn't tell us anything we were left for
about 20 minutes to wonder what was wrong with our baby.

After 20 minutes of waiting my doctor came in and said
that they were concerned about the size of the baby's
head. At 30 weeks the head was measuring a few weeks
ahead. They mentioned something about maybe too much
fluid in the 1st and 2nd ventricles. She tried to
reassure me and said that she was going to refer me to
a maternal fetal specialist. This was a Thursday; our
original appointment was made for 8 days later on a Friday.
I couldn't imagine waiting that long so my husband called
in some favors and we were worked in 3 days later that
Monday morning. After a high definitition ultrasound the
doctor explained that there was in fact too much fluid in
the 1st and 2nd ventricles and also a significant amount
of fluid in the 3rd ventricle as well. What I am reminded
of even today from our conversation with him was when he
said, "I am very worried about this baby and I think
you should be as well." He then encouraged us to have
an Amniocentesis test that day and scheduled us an
appointment with our local University Hospital for
a Fetal MRI for 2 weeks later.

In the course of the 2 weeks leading up to our Fetal MRI
we received the results from the Amnio and were so
grateful to learn that all chromosomes were normal
and we were overjoyed to learn from the test that
our baby was a BOY!!! They encouraged us to move
forward with Microarray Analysis testing which is
more extensive but again all chromosomes were normal!
With each passing day leading up to our Fetal MRI I grew
more and more anxious. I was consumed with worry
and anxiety.

Fast forward and at 32 weeks, from the Fetal MRI, we
were given the official diagnosis of Hydrocephalus
and Complete Agenesis of the Corpus Callosum. We
were left to wonder, “What is ACC?” The maternal
fetal specialists and staff at the hospital were
lacking in information and basically gave us some
copied pages from a text book with some harrowing
facts about ACC, nothing positive to say the least.
Words that stood out from our conversation that day
were, "facial deformities...baby may never walk,
talk or eat and will likely have rage issues."
I was numb to these words. I couldn't believe that
only a few weeks before we were just a "normal"
family, excited to be expanding our family without
a care in the world.

Somehow we muddled through the next 5 weeks. I
continued to see my regular OB for twice weekly
check-up’s and BPP’s (Biophysical Profiles) to make
sure the baby wasn’t in distress. They never would
tell me if the baby's head was growing but would
occasionally hint that it was in fact larger than it
should be so I was left to assume that his Hydrocephalus
was severe. And because I needed to deliver at another
hospital I was unsure of when or how he would be born,
who would be my doctor. We knew we needed to deliver at
the University Hospital because they have the only
in-state Pediatric Neurosurgeon and we knew it was
likely the baby would need a shunt placed.

At 37 weeks it was decided to do another amniocentesis
at the University to check for lung development and at
37 weeks and 1 day on Tuesday, August 17, 2010 Levi
joined our family. They wisked him away and it wasn’t
until several hours later that they allowed me to see him.
When I was able to see him and touch him….I was in awe
and my heart was filled with joy at the wonder of him.
He looked just like our other 2 children, absolutely
beautiful. For so many weeks we had prayed so diligently
for him. Surrounded by family, friends and our priests
that day I knew that Levi was truly a gift from God and
today he continues to bless our family.



Levi had a VP Shunt placed a week after his birth and
was released from the NICU one week later. Levi was
officially diagnosed with an Interhemispheric Cyst in
March. The cyst was suspected in utero. Today, at
8 months old, he is doing remarkably well! In comparison
to our other 2 children he is meeting milestones and
developing just as he should.

Levi learning to push up on his tummy well at 5 months old


We qualify for physical therapy 1 time a week. He has
been rolling over since 4 months old and has been sitting
mostly unsupported since 7 months of age. He is like a
little inch worm, squirming on the floor. Not ready for
crawling but by all accounts doing remarkably well!

Levi sitting at 7 months old during a trip to the beach with family


If by sharing my story brings comfort and hope to even
one family then it's been worth my time in sharing it.
I worry so much about Levi. There are so many “what if’s”
that fill my head each day. That being said, I worry
about my other 2 children as well. It’s my job as a mom
to worry and want the best for all 3 of them. But, God
is so good and His grace is sufficient. I am an all
together better person today because of all three of my
children. Our family is stronger, we are better and more
faithful than before.

Levi at 8 months old on Easter Sunday


I say about Levi that he is EVERTHING God intended him
to be and I know he will do great things. He is perfect
and I wouldn't change a thing.


Shea (Levi's Mommy)
E-mail Contact: shealuckett@yahoo.com


There are many different stories and outcomes of
ACC and Moms-To-Be.

I welcome every story.

Do you:

Have questions?
Need support?
Want information?
Have encouragement to give?

Do you want to share your own ACC story here?

If you do, please leave a comment below or you can E-mail me:
hope@aracnet.com

Want to talk to other moms who have been there and
understand? Join the ACC Listserv e-mail support group.

I hope to continue sharing more of these ACC and Moms-to-Be
stories out in the open in an effort to inform, encourage,
support and help other moms (and dads) out there who are being
told that their baby in utero has agenesis of the corpus
callosum.

This ACC and Moms-To-Be section will always remain open
and available to anyone who would like to tell their story.

Dr. Sherr talks about ACC

Dr. Elliott Sherr is a Pediatric Neurologist at
University of California, San Francisco (UCSF).
Dr. Sherr is highly knowledgeable and an expert
on Agenesis of the Corpus Callosum. He sees many
patients, children, who have ACC and Dr. Sherr
is highly respected and well-liked by parents.
Dr. Sherr is on the Board of the National
Organization for Disorders of the Corpus Callosum
(NODCC) and he speaks at the annual Conferences.

Dr. Elliott Sherr is also involved in a very large
Brain Development Research Study on ACC.

I want to bring to your attention some excellent
resources that provide Dr. Sherr's knowledge
about agenesis of the corpus callosum. More
specifically:

At the 2004 NODCC Conference, Dr. Sherr gave
two presentations about Agenesis of the Corpus
Callosum. They are available as Conference
handouts [in outline form] to read below.

2004 Conference handout titled:
"ACC and Associated Features".

2004 Conference handout titled:
"How to Get the Most From Your Neurologist Visit".

In addition, both of the 2004 Conference Presentations
by Dr. Sherr, in their entirety, have been combined into
one DVD for viewing titled:

"Neurologic Issues in Disorders of the Corpus Callosum".
You can purchase the DVD from the NODCC store.

I own a copy of the DVD (recently purchased) and find
it to be very informative. My son, Matthew, who has
complete Agenesis of the Corpus Callosum was diagnosed
at four months and he is 17 years old.

The 2004 Conference DVD is divided into two separate
Presentations:

"How to Get the Most Out of the Visit/Relationship
with Your Neurologist"

and

"Agenesis of the Corpus Callosum and
Associated Features"

A few of the topics and information covered in
the "How to Get the Most Out of the Visit/
Relationship with Your Neurologist" 1st episode
of the DVD include:

Dr. Sherr says:

"I just want to say one thing: that there
are a lot of syndromes that are sometimes
associated with ACC where ACC is not
necessarily the principal issue. And that
doesn't mean that your child's not going to
have ACC related issues but it's important
to recognize that there's probably a lot
going on and ACC is a piece of that as
opposed to the primary driver of the issue."

Dr. Elliott Sherr was involved in an ACC Review
titled: "Agenesis of the corpus callosum: genetic,
developmental and functional aspects of
connectivity".

Genetic Syndromes occasionally and frequently
seen with ACC can be found on Page 8.

CHILD NEUROLOGISTS:

Dr. Sherr states that they should be board
certified in child neurology.

ADVICE REGARDING MRI FILMS:

He says:

"You should have the copy of the films with
you and in today's day and age you can have
a copy on CD. You can also, if you want,
have a film copy as well." (for yourself).

Dr. Sherr talks about asking for a film
copy of the MRI for you to have. Then you
are able to take the MRI film copy with
you to doctors and specialists that your
child sees.

Also discussed on the DVD:

What Type of ACC is this?

complete ACC
partial ACC-hypogenesis/dysgenesis
thin corpus callosum-hypoplasia

What are the associated CNS changes?
CNS = Central Nervous System
(in other words) - Dr. Sherr says:

"When you look at the MRI what other things
are there that can be seen?"

Is the MRI interpretation accurate?

Dr. Sherr says:

"I will tell you...so you know we're doing
research in my group on ACC and so we've had
families from around the country send us their
films and I can tell you that the accuracy...
the families always send us the films and
frequently the radiology report is included
in there."...

"for somebody who is not used to looking at
brains of children on MRI they're more likely to
make that mistake because they just don't have
the experience of looking at them. So the
people that I work with have probably looked
at in excess of 10,000 brain MRI's on children
and so they have a fairly strong wealth of
knowledge about what is what, what is normal,
what is abnormal and if it's abnormal, what is it,
and that is actually very important. And so when
we got the films--we've gotten over 100 set of
films--and I'll tell you that about 5 to 10% of
them were completely wrong"...

"Even the best radiologists are going to make
mistakes."

"So how do you address that?"

Neuroradiologist and
Pediatric Neuroradiologist

"Who's reading the film? Is it a Neuroradiologist?

So there are Radiologists, people who are board
certified in radiology, but then there are people
who do an extra two years of additional training
and all they look at are images of the brain and
the spine and the nerve roots throughout the body
so they're more likely to be experts in reading
brains."

"And then there's another level. It's not
a level that you can get a little certificate for
but there is another level of specialization where
they're Pediatric Neuroradiologists, where all they
do all day long is look at MRI's and other imaging
modalities of kids' brains and kids' spines and the
reason that's important is that the developing brain
looks a lot different on MRI than the mature brain.
There's a lot that's going on obviously inside of
your child's head when they're developing and that
is actually seen to some degree when you take
pictures. when you take this MRI and somebody who
is an expert in that knows about what a brain is
supposed to look like at 3 months and how it's
supposed to look at 3 years, cuz those are very,
very different. And how you interpret the results
is based on your knowledge of knowing how the brain
looks as it progresses during development. So this
would definitely be one of those cases where if
only a local radiologist has looked at it, you
should request that the MRI be reviewed by a Pediatric
Neuroradiologist. And there are ways to have your
local doctor send the films to another radiologist
[Pediatric Neuroradiologist] for a second opinion
and I would pursue those."

Dr. Sherr says:

"Have your Neurologist show you the films and go
over the films with your Neurologist."

He says to question the Neurologist about the
indecipherable terms on the MRI report and have
them explain each finding to you.

MRI's in Children

Dr. Sherr says:

"There are certain things that we can see at
3 years we can't see at 3 months and so if your
child's first scan was at 3 months of age I
would recommend getting a second scan when
they're 3 or 4 years of age."

He provides more detail about this topic on
the DVD.

Preliminary Findings of ACC:
White Matter

Dr. Sherr states:

"Is there a correlation between what we see on
their MRI and how they're doing clinically?"
We did find something preliminarily. We found
that the clinical score correlates with the
amount of white matter and white matter is
insulation in the brain."

"So the more insulation [white matter] that
you're missing the more severe your clinical
condition was. And if the brainstem was
involved that was also correlating with
severity."

Dr. Sherr further states:

"Knowing more about the MRI is going to
provide you additional information about how
your child is likely to do. And I say likely
because this is just a rough correlation. It's
not a guideline. It's not an absolute-ism."

MRIs and ACC

Dr. Sherr says:

"Everybody should have one MRI at diagnosis
and, unless the diagnosis was made later in
life, should have a second MRI."

The DVD includes many other topics and
information about ACC.

At the end of the DVD Dr. Sherr took
questions from the audience. One
question was:

"Why do some people who have ACC function
fairly normally and live a relatively
normal adult life?"

Dr. Sherr replies:

"Some of that might have to do with other
places that fibers cross...so there's
something called the anterior commissure
and it's a place that fibers cross and it's
in front of and a little down from where the
corpus callosum is."



"And actually when we reviewed some people with ACC
we noticed that they had big anterior commissures,
suggesting that maybe fibers that should have gone
through the corpus callosum crossed through there.
So that's one possible explanation."

note: Anterior commissure. Small band of approximately
50,000 axons that connects the cerebral hemispheres. The
anterior commissure connects the temporal lobes and is
located at the base of the fornix.


A few of the topics and information covered in the
"Agenesis of the Corpus Callosum and Associated
Features" 2nd episode of the DVD include:

MRI features that can be associated with ACC:

*COLPOCEPHALY:

"This is a posterior enlargement
of the lateral ventricles that results from the
absence of the corpus callosum."

"Similar phenomenom is the 'steer-horn' shaped
lateral ventricles seen more anteriorly."

*UPWARD DISPLACEMENT OF LATERAL VENTRICLES

Dr. Sherr says:

"The first two [colpocephaly and upward
displacement of lateral ventricles] are
almost always seen with ACC...not always
but almost always...and it's just what
happens to the brain in the absence of
the corpus callosum."

"So it's not a separate diagnosis
all by itself. It [colpocephaly]
is intrinsic to the diagnosis of
ACC."

He also states:

"So it's like if you're building a building
and you take out scaffolding in one of the
main areas of the building then the
building's going to look different. It's
going to have support structures in
different places and so that's what's happening
to the brain."

"But it's not a separate diagnosis. It's
just what happens when the scaffolding,
which is the corpus callosum in a way, is
missing. The ventricle's going to bulge out."

"So colpocephaly and what radiologists
call steer-horn shape ventricles are a
consequence of the absence of the corpus
callosum."

*PROBST BUNDLES

The corpus callosum is made up of 200 million
axons (also referred to as fibers).

Dr. Sherr says:

"Axons are like the telephone wires that are
connecting all the phones together and they are
these wires and they go from one side of the brain
and they cross over to the other side of the brain.
And if they cross over to the other side of the brain
then the corpus callosum is formed and if they don't,
then where are they going to go...

So in certain individuals those fibers go to the middle,
they can't cross, presumably because the structure that
needs to be made in development, (what's called a callosal
sling) is not there and so instead they turn to the left
or they turn to the right and they go alongside the edge
of the callosum (or where the callosum would have been)
and form the Probst bundles. And it's unclear what this
means.

Some people think that if you have Probst bundles that
it correlates with a better diagnosis [outcome]. We
don't know that yet but that's hopefully one of the
things we'll be able to answer more definitively."

Dr. Sherr (in the DVD) goes on to point out visually
on an MRI image where the Probst bundles are.

He then says:

"Not everybody with ACC has Probst bundles but a lot
of people do have Probst bundles but we don't know the
significance of that yet."

*INTERHEMISPHERIC CYSTS:
*a. type 1 - communicate with ventricles
*b. type 2 - not communicate with ventricles
*c. continuum with lipoma

Dr. Sherr says:

"These cysts are fluid filled structures outside
of the brain matter proper."

"So actually when the brain is formed there
actually is a space between the two hemispheres
so it's not within the brain proper...it's sort
of like in between the two sides."

"And the current thinking is that cysts develop
in lieu of the corpus callosum."

*LIPOMA:

Dr. Sherr says:

"One thing that happens instead of a cyst
forming is that a little structure, that's
basically a fat collection, which is called
a lipoma, will form instead.

ACC Brain Images

In the DVD, Dr. Sherr also speaks in detail
about other brain anomalies seen with ACC.

Dr. Sherr said:

"If you just look at the number of people who
have just ACC and nothing else that's a smaller
percentage than the total, so most kids with
ACC are going to have ACC and something else."

Dr. Sherr explains the different views of
the brain on MRI films and shows examples.

Dr. Elliott Sherr advises:

"When you get an MRI scan you need people to do
Axial, Coronal and Sagittal views to get a true
picture of the structure of the brain."

Also discussed:

Can My Child Have ACC and:

Autism
Attention Deficit Hyperactivity Disorder
Obsessive Compulsive Disorder
Cerebral Palsy
Mental Retardation

Dr. Sherr says:

"The short answer is yes."

However, in the DVD he goes on to answer
in more detail.

ACC Syndromes with Molecular Genetic
Testing:

Dr. Sherr says:

"So these are examples where the gene is known
and it causes ACC."

Andermann Syndrome
Mowat-Wilson
ARX related syndromes
L1CAM

He also says that in his experience they are
very uncommon causes of ACC.

The DVD covers a lot more topics and
information about ACC.

At the end of the Presentation Dr. Sherr
took questions from the audience.

(a few of the questions are):

Question:

"Is it acceptable to request a typed up
copy, in layman's terms, of what the MRI
interpretation is?"

Dr. Sherr replies:

"The answer is absolutely yes."

Question:

"Symptoms that might trigger you to get
another MRI?"

Dr. Sherr replies:

"I think that the symptoms that would trigger
somebody to get another MRI down the road
would be a significant worsening. So if a child
is developing at his or her own rate and then
all of a sudden they stop developing or they
decline in development, that would be a reason
to get an MRI. If there's new symptoms that
are significant and not sort of part of things
that they're already doing, you need to
potentially get another MRI, and the last one
would be something that might need to be
discussed with your doctor, depending on what
they are."

Also available from the NODCC is Dr. Sherr's
presentation at the 2008 Conference on podcast, at
no cost, which includes some of the same information
on the DVD from the 2004 Conference plus even
more information. In my opinion, the DVD and the
2008 Conference podcast are BOTH excellent
resources about ACC.

note: The DVD from the 2004 Presentation
gives the advantage of being able to see the exact
area of the brain Dr. Sherr is talking about (because
he uses a red light pointer to visually point to the specific
brain structure in the picture that he is discussing).
The 2008 Conference podcast displays still frame pictures
of the brain and you only hear Dr. Sherr talking about
specific areas of the brain, but do not get to visually
see them being pointed out.

note: you will need to download the TechSmith
Screen Capture Codec (TSCC) to view the podcast:
download here.

2008 Conference podcast with Dr. Sherr

(a few interesting highlights are):

3 family generation of complete ACC and
partial ACC in one family. Dr. Sherr discusses
one family where ACC and partial ACC is seen
in a grandfather, children and grandchildren.

seen at time frame 12:44-15:26

Dr. Sherr states:

"All of these individuals with a corpus
callosum disorder did well or average in
school and the adults have jobs. So these
are folks who are functioning at a very
high level."

ACC and Heart Defects:
seen at time frame 32:53-33:49

Dr. Sherr says:

"Almost 1/4 of the kids had heart problems.
Now these are not innocent murmurs that then
go away. These are actually kids who have real
heart disease. So my recommendation on any child
with ACC is that they get a comprehensive heart evaluation."

Colpocephaly is discussed:
seen at time frame 38:52-40:29

Dr. Sherr says:

"And so if doctors say your child has hydrocephalus
you want to be very careful to ask them, well does
the child have hydrocephalus or does he or she just
have colpocephaly?"

Interhemispheric Cysts discussion
and other ACC features
seen at time frame 43:20

Question regarding Interhemispheric Cysts:

"Do they enlarge or do they stay the same?"

seen at time frame 49:09-50:44

Dr. Sherr's answer:

"I don't think I have good enough numbers yet
but I would say that the short answer is most
don't change in size and a few will change
in size.

"If a cyst enlarges it will result in the
symptoms of hydrocephalus and so usually what
that will mean is that the child will present
with some sort of symptoms...usually it could
mean things like vomiting, particularly vomiting
when you first wake up in the morning, if a child's
eyes seem to be pointing down too much instead of
being right in the middle of the eyelids, if the
child seems to be too sleepy (lethargic) that
could also be a sign of hydrocephalus."

"So for my patients in my clinic who have an
interhemispheric cyst, when they're little I'll
get an MRI every year for the first three years
of life and if there's no growth after three years,
then I'll do one more when they're 5 years of age and
then after that I won't do anything unless they have
symptoms. But that way...I think most of the kids that
have cyst enlargements, it happens early on."

It's definitely worth exploring these valuable
ACC resources mentioned in more depth for yourself.

You can also find additional resources about ACC
(including Conference handouts, podcasts, and other
items) available at the NODCC website.

Do you want to enroll in the ACC Research Study at
UCSF where Dr. Sherr and his colleagues are involved?
Please contact: Brieana Fregeau at 415-502-8039.

Got an Idea?

Do you have an idea?

I have ideas about topics to include here on
the Agenesis Corpus Callosum blog and I'm usually
working on one or have some ideas stirring around
in my mind.

But I am very interested in knowing YOUR Ideas!

What are they?

What do YOU want to see here?

When it comes to Agenesis of the Corpus Callosum,
what type of information are YOU seeking?

It's especially important to me to include a wide
variety of information here that pertains to ACC.

Is there a specific topic here that you like and
want to see more of?

What's not here that you wish was?

School issues?

Speech and Language?

Adults & ACC?

Some other topic?

If you have an idea or several ideas, then here's
a place for you to express them. Share an idea
once or twice or as often as you would like.

Please leave a comment with any ideas that YOU
have.

Go ahead, be the first to share YOUR idea.

I can't wait to read them all.