My Son and I have Koolen de Vries syndrome and my 2nd Daughter has mild Ventriculomegaly 10.8mm and 11.5mm at 22 weeks/ Positive stories please Mamas!

[MumOfMiracles]

Hi ladies, so long winded title but wanted to give the full story. 50% chance of my Daughter having KDVS, my Son bless him had a really hard start in life but is a happy and healthy 14 month old who's doing awesome with his progress. My other Daughter is nearly 3 and has had no issues at any point. All else with baby girl so far appears normal which is great and only a mild case so far but going back in 4 weeks for a re scan as fetal medicine scan picked it up. Anyone else in or been in a similar situation? Would appreciate hearing from you! Thank you xx

My sweet boy at playgroup today! xx

I don’t know anything about the syndrome you refer to, but mild ventriculomegaly was found at my 20 weeks scan. I had TORCH screening and amniocentesis and these came back clear. After 4 weeks, the ventricles went back down to normal levels. All is fine now. I would advise you join some Facebook groups. I found them to be very helpful. Try not to worry, although I appreciate it’s a worrying time.

Thanks so much for your reply, really assuring to hear! x

My lovely nearly 8 year old boy has ventriculomegaly. His was not picked up antenatally though, he was diagnosed at a few days old.

Aww really? How is he doing? Xx

@elliejjtiny, seeking support with anxiety issues so please only share if you think it will be a help to hear it. Thank you xx

He is doing really well. As a rough guide based on the parents on the ventriculomegaly support group it's mainly the babies who have measurements over 20ish who have other problems. Even then there are many babies who had measurements of more than 20 who have been absolutely fine. I know it's scary but your baby's measurements are relatively very close to the normal range.

Thanks so much for sharing @elliejjtiny, that is really encouraging to hear. Had so much worry and emotions last week but this week am feeling calm in comparison and am back to enjoying my pregnancy again. She is definitely kicking stronger and more often so am sure I have another little fighter in there! 💪🥰😘

Have you tested for kdvs prenatal? My ds had enlarged ventricle in utero and has kdvs. Are you on the kdvs Facebook group(s) ?
As you know kdvs has wide range of abilities

No I'm not didn't know there was one? I had KDVS for 37 years and didn't even know it, glad to say though my beautiful boy is doing amazing! Such a smiley and active little soul, love him. I go back on 10th June for a re scan and they are already aware about me and my Son so will see how it goes. I did call to request a MRI but had no news of an appt yet. Thank you for taking the time to share. xx

Found out we both had KDVS from a Tri gnome test, most up to date genetic test there is currently where we are. Took 14 months to get the diagnosis of blood tests, scans, consultations, so its so good we finally know what we are working with. x

There is a 50/50 chance of her having KDVS so will see how things progress. x

Search on Facebook koolen de vries 1.3k members nd koolen de vries europe

Also kdvsfoundation.org/sp_faq/dr-koolens-clinical-survey/

www.17q21.net/en/index.php

There are a few parents with kdvs themselves on the groups not many

Thank you! How is your sweet boy getting on? x

He is early 20s. Was diagnosed with ASD...loves YouTube and Google maps and getting out and about . Typical kdvs friendly personality. Lives in supported living. Communicates with ipad AAC app. There is a,wide variety in people with kdvs : )

Hi, my son who is 14months just got diagnosed with KVD. I see that you as an adult just found out. So it is possible to live life with this syndrome and not even be aware of it? Do you show any physical features of this syndrome? It has been very tough on me finding out this news and I have so many concerns and worries for my little one.

Hi @MumOfMiracles . I’ve no knowledge of the syndrome that both you and your DS have, but just wanted to say that our youngest DD (now 2) was diagnosed with mild ventriculomegaly, which progressed to moderate VM before being diagnosed with Hydrocephalus and having a shunt placed at 1 month old. She was born with Spina Bifida though and It’s what’s caused the Hydro.

She’s the happiest little girl though ❤️

So sorry I missed your comment Joanne. Will personal message you. This is me and I have 3 beautiful children, two of which are my kool kids. I also have 2 FB support groups? Would you like to join either? Mamas Heart Support group and KDVS UK Support Group? I am also a writer and advocate in the rare disease community. Love to you and yours.

@MumOfMiracles
My daughter has moderate bilateral ventricularmegaly. Was 14mm at the 20 week scan. We had a fetal mri at 22 weeks, regular scans for the rest of pregnancy to check it didn't increase. She then had a ultrasound on her head at 1 day old and 3 months old and an mri at 18 months. It has remained at 14mm the whole time and the mri also showed that some of her white brain matter was missing.
She is absolutely fine and has smashed every milestone.

I am now pregnant again with twins and twin 1 also has the same, though his is currently mild at 10mm.
We have now been referred to gosh for genetic testing.

Hope this is helpful to you.