Agenesis of corpus callosum

SunshineShades

Does anyone have a LO who has been diagnosed with ACC? I am currently 36 weeks pregnant and went in for an ultrasound on Monday after some bleeding. At the ultrasound they could not see the third ventricle in her brain.

On Monday I go for another ultrasound at a Children's hospital as they have better equipment and then see a doctor right after and possibly a genetic counsellor.

I had 2 anatomy ultrasounds at 19 and 24 weeks and the abnormality was not discovered then. As well as an IPS (Nuchal translucency) ultrasound done at 11 weeks. Which also came back normal.

Could it be possible that this last ultrasound was wrong, or because of how she was laying it was just missed?

What could I be looking at in the future with a LO with ACC? I know what I read online it can be a wide range, but I am looking for some positivity from Real Life Mums.

TIA!!

Justinlove

I don't have time to fully respond right now, but I will come back later and post.  My DD has ACC and it was not discovered until a 30-something week ultrasound.  It is EXTREMELY difficult to see the absence in early ultrasounds because it is very small and the baby has to be positioned "just so."  It is also something that many "everyday" ultrasound techs do not do an extensive search for--it is more often detected by specialized techs/doctors.  It is easier to see the absence (it can appear as enlarged ventricles or other empty space) as the head gets bigger. 

I just had another u/s with this baby yesterday at 30 weeks and the way she was positioned (transverse) made it difficult for the doctor to see her complete CC (although he has seen it before since we were specifically looking for it). 

See that cutie pie in my sig?  That's my girl and she is simply amazing!

 

SunshineShades

Thanks JustinLove.
can you think of anything specific I should be asking at my appointment on Monday?

Assembly_Reqd

Nate has HCC which is hypoplasia or underdevelopment of the CC due to deletions on chromosome 1. It was not diagnosed prenatally becaue he has a CC it is just thin. The chromosome deletions are interstitial so the visual chromsome matching done by the CVS did not detect them. After birth, we were told he has PACC or partial agenesis. The diagnosis changed after a sedated MRI at 6 months old to HCC. Since the structures were bigger, they could be seen better and the MRI was looked at by a different radiologist.

There is a huge spectrum of outcomes, mainly because there are children who only have issues with the CC and there are children like Nate who are considered ACC-Plus. Since Nate is not a pure ACC-er, me giving you a list of what to expect will be worthless to you. Anecdotally, you will hear that ACC children "do better" than PACC or HCC. I am on the fence regarding this. I will say that there are several adults who find out they have ACC when they needed an MRI for other reasons. The ACC dx explained a lot of stuff for them such as being socially awkward or clutsy.

After you know better what you are dealing with, there are some great web resources you can turn to. I wouldn't  borrow trouble and dig too deep into everything until you know more. Your DD will probably have an MRI right after birth to confirm the diagnosis. You will also be seeing a geneticist to verify if the ACC is isolated or part of a syndrome. I would hed over to the NODCC website-National Org. for Disorders of the CC and cruise around there a bit. The podcasts from past conferences are helpful. From those I learned that a surprisingly large percentage of children with ACC have normal intelligence, they just need educational supports to help them with their individual learning style which is mainly "repetition, repetition, repetition"

Another blog to google is titled "Angels around the world" written by a mom. She has done awesome work and with the help of the other parents in the ACC community, has written many posts regading different ways our kids learn and what has helped other people. There are two groups on Facebook for DCC people to which I belong. You can search for ACC or HCC and join those. ( Pick the results with the most members) They are closed groups, but there is no review process or anything.

The good news regarding this diagnosis is that Early Intervention will consider it a "diagnosis with high probability of developmental delay" In most states, your daughter will automatically qualify for therapy services. Take advantage of all that is offered. I think we started Nate's PT at 2 months old!

Good Luck with the rest of your pregnancy. Nate is a pretty awesome little guy. I truly believe he picked us to be his parents. He knew we would be bored silly with a typical child.  Feel free to ask more questions. It is a very scary diagnosis. We were terrified. There are a couple other DCC moms on here and I hope they can chime in too.

Justinlove

(Typing on my iPad so please excuse weird auto corrects)

 

If the specialist suspects ACC after the u/s on Monday, then a couple of things to ask and star preparing for.

1.  Does your hospital have a NICU in case there are issues after birth?  Sine ACC is a midline issue, some kids have difficulty with eating early on (poor swallow/suck coordination for example).

2.  Can they go ahead and collect cord blood to be sent for genetic testing?  You will get results MUCH sooner if possible...plus, no additional pokes for your kiddo later.

3.  Will they do an MRI during your hospital stay?  You want them to as it is the only way to confirm ACC.

 4.  Can they recommend a pediatrician who either has experience with ACC patients or those with special needs.

 

A good pediatrician will be able to guide you along the path of therapies and specialists.  You will want to see a geneticist, neurologist, opthalmologist As well as be assessed for Early Intervention.  I know it sounds overwhelming, but catching some things early on can be extremely beneficial.  There are some associated syndromes that are particular to girls with ACC that a neurologist can help identify or eliminate (luckily for DD, she does not have any).  Kids with ACC are also more likely to have optic nerve malformations, hence the opthalmologist.

 

stay away from google.  The range of impairment is so vast that you really just have to wait and see.   

pandabear12178

My daughter doesnt have ACC but she has SOD (missing the septum pellicudum ). I have a very good friend whos daughter has ACC and she is a perfect "typical" little girl.

When we got Ariannas DX ( Schiz, SOD, Polymicrogyria ) it was not detected until 28 weeks when I mentioned being so small. I was sent to CHOP for an US, MRI, and EKG. Also was followed by MFM for the remainder of my pregnancy.

And just random info: Albert Einstein has ACC

Assembly_Reqd

pandabear12178:

And just random info: Albert Einstein has ACC

This is a popular myth. Einstein's postmortem brain pathology actually shows a larger then normal corpus callosum. 

yoyomacosa

Hi, I'm new here too but my daughter has ACC.

With us, it was not discovered in utero. As I believe some others have said, you have to be looking for it at the anatomy scan to have any sense of whether the corpus callosum could be missing and it's not something that is routinely checked for.

As for what you might be looking at in the future, the others are right: only time will tell. I think most of us were horrified by the diagnosis initially only to find out that it doesnt have to be that bad. My daughter certainly has her struggles -- right now, her biggest challenge is with motor skills as many (but not all) ACCers have low muscle tone. But I would say that overall she is doing well and we think her intelligence will be normal.

I still hold out hope that she will be an independent adult, which is absolutely possible with this diagnosis tho there are some who end up being very impaired. Like with autism, it's a broad spectrum. The real life Rain Man did not have his corpus callosum. He had a photographic memory because he learned to develop that part of the brain -- a feat that many people who have their corpus callosum might not be able to achieve. He could recite all the US presidents backwards and forwards but he couldn't brush his own teeth. 

As for the poster who mentioned Einstein, this is not true. His corpus callous was actually recently extracted from his brain. 

https://www.newyorker.com/online/blogs/backissues/2012/05/einsteins-travels.html