Agenesis Corpus Callosum

Ninetta82 · 2022-03-14T18:57:52+00:00

Hi everyone, I am wondering if anyone has had experience with agenesis of the corpus callosum. My daughter, 10 months old, has just been diagnosed with partial agenesis (dysgenesis) of CC and has a cyst in her brain. This was not picked up at the anomaly scan which already makes me quite sad. The worst part of our story is that GP has always dismissed my concerns about by baby's development ... it turns out I was right to be worried. I had to fly back to my country to get the tests done for a diagnosis as in the UK they would not refer me yet. My daughter is very delayed on milestones and I am working hard with PT to help her move her body but at times I feel things will never change. I hope to hear encouraging stories as at the moment I feel helpless. Thank you all 🙏

Embracelife · 14/03/2022 19:02

Get genetic tests done a full microarray you might get an idea of underlying condition
Too early to give prognosis but keep working on physio and communication use baby signs and of makaton

Embracelife · 14/03/2022 19:03

She is still your baby it will be ok
Speak to h v if you need support

Original poster

Ninetta82 · 14/03/2022 20:02

Thanks for your reply ! We have done full array cgh and the whole exome sequencing on the three of us which came out clear. It seems an isolated ACC. I spoke with HV who did not do much, I had to push her hard to get a referral to NHS but I have not heard from her at all.

OP posts:

Embracelife · 14/03/2022 20:41

Try to get into under fives groups for babies with delays

Mab27 · 14/03/2022 20:51

My daughter has ACC she was diagnosed at around 3 having failed to thrive and missing milestones. She went to mainstream primary school with a one to one support and an EHCP. She Is now at a special school that she loves. She is 15. I would suggest Corpal.org as a good place to look for help. She has had to deal with a lot but is happy and lots of people wouldn’t notice she had any problems.

Ninettas · 14/03/2022 22:53

@Mab27

My daughter has ACC she was diagnosed at around 3 having failed to thrive and missing milestones. She went to mainstream primary school with a one to one support and an EHCP. She Is now at a special school that she loves. She is 15. I would suggest Corpal.org as a good place to look for help. She has had to deal with a lot but is happy and lots of people wouldn’t notice she had any problems.

Thanks for sharing your story, I really appreciate it. I would love to understand more about how you managed to get your daughter moving and talking. Do they eventually learn? Our daughter smiles loads and loves music, I feel sometimes she would like to do much more but she simply cannot as her body does not respond to her commands so she gets agitated and frustrated. Even reaching for a toy or holding it could be a very difficult task for her so I just would like to understand how I can help her to reach her full potential as I feel I am not able to provide her with the right stimulation. I have already signed up with Corpal and they sent over some useful information however I am struggling with the unknown and with the pain of not seeing my baby thrive.

TallTreeWaving · 14/03/2022 23:09

I couldn’t tell you much information, but I know of a child who has this condition, a really lovely child who has some learning difficulties, but attended mainstream primary and secondary schools with a special needs assistant and has thrived. Maybe it has taken a little longer to learn some things, but this child has good friends, communicates well and seems to be enjoying life. You sound like a lovely mum who will do your best for your child. I’m no expert, but I’d say just play with your little girl as much as possible and she’ll learn new skills in her own time. Ask lots of questions from doctors and try to fight for therapy if that’s an option? I wish you both all the best.

Ninettas · 15/03/2022 09:55

@TallTreeWaving

I couldn’t tell you much information, but I know of a child who has this condition, a really lovely child who has some learning difficulties, but attended mainstream primary and secondary schools with a special needs assistant and has thrived. Maybe it has taken a little longer to learn some things, but this child has good friends, communicates well and seems to be enjoying life. You sound like a lovely mum who will do your best for your child. I’m no expert, but I’d say just play with your little girl as much as possible and she’ll learn new skills in her own time. Ask lots of questions from doctors and try to fight for therapy if that’s an option? I wish you both all the best.

Thank you. It's such a worrying time for me that any story is just helpful to have some hope