# Goldenhar Syndrome or other Craniofacial conditions



## Janers

I'm wondering if there are any parents out there who have a baby or child with Goldenhar Syndrome?

Its not particularly common, and I am having trouble connecting with anyone who has much experience with this condition.


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## bbkf

Hello I'm suprised to see this! My baby has suspected goldenhar or possible treacher collins (more likely goldenhar) she has a cleft lip palete and one ear is underdeveloped also. I'm waiting on test to confirm goldenhar what symptoms does your baby have? How are u finding things?


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## Janers

I didn't think I'd find anyone in the same position!

My baby is 2 months old, and she was born with a very underdeveloped left ear, there is just a very tiny "nub" in its place. The left side of her face is slightly smaller then the right. 

She has a mild case, if you look at her face the difference is not very noticeable, and actually a lot of people don't even realize she's missing an ear!

We've been to a few specialists, ENT, Audiologist and opthamologist, and each one has requested we come back, shes so young none of them were able to tell us anything definitive.

Right now i'm mostly concerned about her hearing. I really hope to get some positive news about her ears. I know shes young, but right now she doesn't really respond to sound, even loud startling noises. 

So Anna was diagnosed with Goldenhar when she was about a day old, what further tests are you waiting on for diagnosis? How old is your LO? 

Goldenhar is pretty rare where I live, I knew nothing about it before my daughters diagnosis. I


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## bbkf

Hey I'd never herd of it before either! My LO is 3.5 months her ear is also just a little nub, she's had hearing tests and she can hear in both ears so they will construxuct her an ear when she is 8 or 9 years old. My daughters is mild aswell once side is slightly less developed but not much.

I'm waiting for genetic testing to confirm its definatly goldenhar, oh and my daughter didn't used to respond to noise at 2 months so it doesn't necesarily mean she's can't hear. Were actually going for her cleft lip sugery in 2 days! Its crazy our LO's are same age n have goldenhar I couldn't even find many peoples experiences or stories when I googled it :/


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## Janers

Isn't that interesting, our daughters sound very similar.

It has definitely been a bit of a rollercoaster, when we first got her diagnosis I googled it and saw pictures of the more severe cases and I expected the worst for our girl, but you really wouldn't notice the difference in her face, which I'm thankful for. 

My baby was also born with a couple heart problems, so the first week of her life she was in the NICU and we had a lot of information thrown at us at once, including the Goldenhar diagnosis.

I'm happy to hear your daughter can hear out of both ears, that definitely makes me feel hopeful for my Anna! We're going back for testing in March.

I was reading this website: https://www.experienceproject.com/groups/Have-Goldenhar-Syndrome/98003 People of all ages post on here with their experience having Goldenhar, I found it interesting to read what people with Goldenhar found challenging.

Is this your first baby? 

Good luck with your little ones surgery!


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## bbkf

Ah ill have a look on that site, yeah she's my first baby.

When will anna have her hearing tested? My LO had hers done at a few weeks old.

Will she have to have any surgeries for her heart? And google can definatly scare you as it always shows worst possible cases! 

Luckily our daughtners are quite mild, iv got a lot of operations and things to deal with in the future but iv always thought it could be a lot worse and I'm happy if she's happy anyway.


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## Janers

My goodness your right, it absolutely could be worst, I thought that from day two... day one it felt like nothing else could possibly go wrong, but once i processed everything I could see we were actually very lucky!

Anna has some holes in her heart that they will monitor, thankfully they are very small and dont require surgery. She also has something called SVT which caused her heart rate too shoot up to 280 bpm, she was born via c section when that happened, but it does not require surgery just monitoring in case it happens again.

So thats interesting your LO had her hearing diagnosed at a few weeks old. Once Anna was discharged from the NICU we were booked in with the audiologist for the next day, so she was just 1 week old, and they looked at her and basically said theres nothing for them to do until shes 3 or 4 months old. So we are waiting until March too have some hearing tests. Even then they said they won't be able to fully diagnose her underdeveloped ear without a CT scan, which they wouldn't want to do until she's a bit older. I've been a bit confused about the hearing tests, and have lots of questions for the March appointment.

Do you know how many surgeries your little girl has a head of her? Your a brave lady, I know its hard to see your baby in the hospital, and too watch her go through surgery must be tough.


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## bbkf

Hmm that's strange she had hearing tests straight away where they sounds or vibration and monitor the brain activity so they no she can hear in both :/ they must be able to do the same for LO. Hm I'm not sure how many ops maybe 4 or 5? She" have 2 for her lip and palete then she'll need bone taken from her hip to put in her gum, and cartilage taken from her rib to make an ear then another op to do her ear. Quite a few! I'm about to leave for her lip op tomorrow so ill let u no how it goes! 

I would definatly push about the hearing tests if they can do it for us they should be able to do it for you guys aswell and then its one less thing to worry about aswell.


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## Janers

How did your babies surgery go? I have been trying to get on here too message you for ages!


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## bbkf

Hey it went great thanks she was an angel wasn't nearly as bad as I thought! How's your LO doing?


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## Janers

What was her recovery time? I;m glad it went well!!

My babe is doing great! I was exclusively pumping and bottle feeding her the exoressed milk up until a couple weeks ago when she managed to catch onto breastfeeding. Which has been huge! I was determined to get her off bottles.

Now i'm just wagerly awaiting her appointments next month, we see an opthomologist and the audiologist.

She's definitely responding to sound, shes starting to look in my direction when i talk to her, which really has put my mind at ease.

She's also smiling alot, cooing and i think i heard the beginnings of a giggle. Melts my heart!


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## Janers

Hi again, I would really like to keep in touch (I know I don't always have much to say) but I think its really interesting that our LO's are so similar, it would be great to keep in touch.

I just wanted to say I took my daughter to the audiologist today and they tested her hearing in her left ear (the side that is missing the outer ear) and they were able to tell me her cochlear bone is conductive, and with a hearing aid she'll have no problems with hearing. So in the next few months they are going to consider fitting her with a softband hearing aid, and once she is older they will do something more permanent.

If you can I'd love to hear how your LO is doing!


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## bbkf

Hi sorry I havnt been in this section for ages! My daughter's ear sounds identical to yours I think she will be having a hearing aid aswel I actually have a hearing appointment tomorrow so I'll see what they say then.

Her recovery time from her operation was literally a few days it was amazing! Shel be having her palette operation soon I'm just waiting on a date for it now.

Sounds like both little ladies are doing good! :)


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## Janers

It sounds like they are going to consult a rehab audiologist to decide when and what type of hearing aid Anna will need.

They classified her as having conductive hearing loss, which I figured since she has no outer ear. 

They still can't tell me what type of inner ear she has, they just let me know her cochlear bone is responsive (I'm not sure "responsive" is the right term to use, but the bone works!). So when she's older we'll do a CT scan or an MRI to find out more.

When we booked this appointment they told us Anna would have to sleep through the whole thing in order to complete the tests. I couldn't believe it, how would I get my 5 month old to nap on command, and then have people poking around her head, but somehow we managed to make it work! She slept the entire time! I couldn't believe it, I was sure the appointment would be a complete bust.

Let me know what you hear about your LO!

I'm happy your babys recovery time was so fast! I think its just crazy, babys are far more resilient then us adults, if we had a surgery like that, i'm sure it would take us much longer to recover!


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## hanbnan

I realise this is an older thread, and I hope your little ones are all thriving! I can offer a slightly different perspective, because I am 30 years old, and have Goldenhar Syndrome myself.

I am newly married, and the hubster and I are just now starting to try for babies, which has it's challenges because of my Goldenhar, but we've been instructed to go ahead and try - before Drs step in.

Anyway, I'm sure I can offer some insight, if anyone is keen to hear from another adult who has lived her whole life with Goldenhar.


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