Blind and Visually Impaired Community
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Any people familiar with Microdeletion Syndrome 8q21.11? (self.Blind)
submitted by PeaceAndBalance
Hello all, new to Reddit so I wanted to introduce myself.
I'm Lindy and I have a baby who is currently blind.She was born with Microdeletion Syndrome 8q21.11, Congenital Glaucoma and Peter's Anomaly. Willow was born with cysts in both eyes, causing blindness. She's 19 months old right now and has been under anesthesia about 20 times. The most important surgeries include the removal of her right eye, laser, cornea transplant (she's due for another one soon) and retina surgery.
Willow had some vision for a bit over a year but it is completely gone now, and the doctors are stumped. They're still trying to see what's up though, so I haven't lost hope!
Are there people here with a microdeletion syndrome? Or parents who have a child with a similar condition? I would love to chat! :)
I'm Lindy and I have a baby who is currently blind.She was born with Microdeletion Syndrome 8q21.11, Congenital Glaucoma and Peter's Anomaly. Willow was born with cysts in both eyes, causing blindness. She's 19 months old right now and has been under anesthesia about 20 times. The most important surgeries include the removal of her right eye, laser, cornea transplant (she's due for another one soon) and retina surgery.
Willow had some vision for a bit over a year but it is completely gone now, and the doctors are stumped. They're still trying to see what's up though, so I haven't lost hope!
Are there people here with a microdeletion syndrome? Or parents who have a child with a similar condition? I would love to chat! :)
meganbernadette 3 points 3y ago
Hi! My 25 month old daughter also has peters anomaly and has been under anesthesia about the same number of times. She also has had a transplant. We are still searching for the genetic cause, all genetic testing came back with no answers. There are two amazing Peters anomaly groups on FB that have been extremely helpful to me! Feel free to DM me.
PeaceAndBalance [OP] 1 points 1y ago
Peter's anomaly is a weird thing, huh. I never use that diagnosis because it's just such a wide category and the symptoms can be so many different things.
How's your daughter doing? Have they found some answers since then?
How's your daughter doing? Have they found some answers since then?
[deleted] 1 points 1y ago
[deleted]
meganbernadette 1 points 1y ago
She’s doing great, a typical 4 year old. Vision is 20/200 in right eye and light perception and color in left but it doesn’t stop her. We did 3 extensive genetic work ups including whole genome sequencing of her and myself and my husband and have not found the cause or any leads. It’s a total mystery and I hope we have more answers for her one day if she wants them.
PeaceAndBalance [OP] 1 points 1y ago
Science will keep advancing, so one day it'll happen. 😀 👍
Woowoo010791 2 points 1y ago
My son has 8q21.11-8q21.12 he is 18months old
PeaceAndBalance [OP] 1 points 1y ago
Hi! Thanks for reaching out. :)
ChocoKittens 2 points 3y ago
rarechromo.org might be a good place to start looking for families with similar deletions going on.
My daughter has different deletions, plus a trisomy, but I’m happy to discuss anything you would like to. She’s an adult now, so we’ve definitely been through some things too! She’s doing well.
My daughter has different deletions, plus a trisomy, but I’m happy to discuss anything you would like to. She’s an adult now, so we’ve definitely been through some things too! She’s doing well.
8microdeletion 1 points 1y ago
Hello, I am Korean. My daughter has the same syndrome. I want to talk to you
PeaceAndBalance [OP] 1 points 1y ago
Hi there. Feel free to message me anytime. :)
Rainydaygirlatheart 1 points 11m ago
How is your daughter doing now?
PeaceAndBalance [OP] 1 points 11m ago
She needed an emergency surgery a few weeks ago. Her retina detached. Her treatment is far from over.
8microdeletion 1 points 11m ago
plz check the message :)
Rainydaygirlatheart 1 points 11m ago
Just replied to your msg!
PeaceAndBalance [OP] 1 points 1y ago
Wow, my life has been crazy. I haven't replied to any of these messages and you're all so wonderful. Thank you so much, I appreciate everyone of you.
We're in the US right now for Willow's follow-up treatment. She had a surgery last week. The doctors are positive that they gave her the best possible chance to get some vision, but we need a little bit of luck. The doctor told us that if we're religious or spiritual, we need to ask the higher power for some help because it's now up to her eye (she only has one) to start working, or not.
We're in the US right now for Willow's follow-up treatment. She had a surgery last week. The doctors are positive that they gave her the best possible chance to get some vision, but we need a little bit of luck. The doctor told us that if we're religious or spiritual, we need to ask the higher power for some help because it's now up to her eye (she only has one) to start working, or not.
Rainydaygirlatheart 1 points 2y ago
My son has 8q21.11 microdeletion syndrome and is now 12. We only know of one other family in the US with the syndrome. He wears glasses though his vision is similar to his fathers. I would love to connect and give you more information.
PeaceAndBalance [OP] 1 points 2y ago
Hi there! Thanks for your message!
I'll DM you.
I'll DM you.
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