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Hemangiomom1990 01-23-2012 03:39 PM

Adults With Phace Syndrome? Anyone?
My daughter was born in 1990, with what turned out to be a hemangioma covering the entire right side of her head (including tissues on the insides of eye sockets and ear canal) and a dandy-walker cyst inside the right posterior part of the cranium, (near the cerebellum). Initially they thought it was Sturge-Webber Syndrome, as they thought (the birthmark) was a port wine stain. When the birthmark started to develop into what was then re-diagnosed as a hemangioma, they were 'relieved' that it wasn't Sturge-Webber Syndrome, and the cyst 'may cause motor skills development problems' but don't worry about it, they find these things in people in there 80's that never had a problem. This was medical technology in 1990. We monitored her motor development, which didnít turn anything unusual. The hemangioma swelled, skin tissue died, leaving scabs and scars. We had ear specialists, eye specialists in Children's Hospital in Columbus Ohio. They did the best they could at the time. In spite of everyone's best, she has lost almost all vision in her right eye, and encountered some scarring. In 1995, she had reconstructive surgery to replace a part of her ear that had fallen off as the tissue died with the fading of the hemagioma. This surgery was provided by a great group of people called 'Operation Smile'. We weathered a storm, her face cleared up, it looks a little poofy on the side where the hemangioma was, and a patch of hair is missing on the back of her head where a large scar was, but otherwise, you would have no idea. I have not allowed this to define her. She grew up the typical teenager (good AND Bad, lol) and now she is in college, making pretty good grades, living on her own, working when she can. Everything seemed perfectly fine, we made it through the storm...... Until about 2 weeks ago (and probably a few months ago for her) She started having migraines. Of course, as a "mom", I told her it was probably visual, was she wearing her glasses? (because the cyst she had, remember, since it caused no motor issues, was just dormant, probably go unnoticed beyond old age.) Her Dr ordered an MRI, and upon seeing the dandy walker cyst, was concerned and referred her to a neurologist at the OSU medical Hospital. She told me she has blacked out a couple times, feels weak, and is on seizure medication (I don't know what kind) Unfortunately, she cant get in to see him until the 18th of Feb. Meanwhile, we have started researching on the internet any information we can find. It all seems to point back to PHACE Syndrome, as the gross (meaning large) hemangioma and the dandy walker cyst points to this. They didn't first recognize this until 1996, and of course at that time, we (thought) we were in the clear. It wasn't actually published in pediatric journals until 2008 (she would be 18 at that time) All my new found knowledge both enlightens and frightens me. There still isn't much out there, especially information for PHACE syndrome in ADULTS. The info I'm getting on the Dandy-Walker cyst alone puts a sick feeling in my gut. The survival rate, and high instance of mental retardation, tells me we have been so fortunate so far. But for how much longer? Anyone else out there with an adult child, or are you an adult going thru this? What can I expect now???

smurph 01-24-2012 01:30 AM

HI there! I'm sorry that I don't really have any information to offer but I just wanted to suggest that maybe you could email one of the PHACE experts on the panel here??? Good luck on your search for answers and more information. I think there may be people/families on here who might be able to help you in this way. This site is a great resource. I will check with one of the other Moms I have met on here because she may be more aware of a network of children with PHACES and maybe some adults too. I'll post more later if I find anything out. Have a good night!
Shannon :)

Jennifer555 02-14-2012 12:35 AM

My son is almost 4 and has PHACES syndrome. Because PHACES is a relatively new diagnosis, there are less than 500 known cases of the syndrome. In addition it mostly being diagnosed in children because they are presenting with the symptoms. Had our doctors not recommended an MRI on my son at 3 months old we would have never known about his cardiac and arterial abnormalities, he would have just been been a baby with some hemangiomas. There are probably many adults with the syndrome who have never been diagnosed.

There are some great doctors who specialize in treating PHACES patients, I would recommend seeking out on of these doctors. Her hemangiomas seem consistent with the PHACES diagnosis, but the doctors would probably want more imaging done of her heart and brain before an official diagnosis could be made.

Hope this helps! Best of luck to you and your daughter.

beatriz 04-12-2012 05:35 PM

Hello, with a son 21 with Phace
Sorry about my very bad english, please.
I have a son (21 years old) with Phace syndrom.
Seems like he's adult, but the problem is that i can't write in english.
Anyone who can traslate if i wrote in spanish?
Please let me know.
Thanks a lot.

abatie 04-12-2012 09:25 PM

There are online translators. Type it in Spanish. Then find an online translator and paste what you typed in. It will put it into English and then you can paste the English version here.

missy 04-12-2012 10:11 PM

We have someone at who is just for spanish questions. If you send it to her, she will translate it for you and send it back.


mel38 04-28-2012 09:32 AM

to anyone out there
Was born with a strawberry on forehead in 1974. They burnt it off with dry ice. I had trouble mentally my whole life and never knew why. Found out at 27 that i had dandy walker varient. Just read on internet today i probably have phace syndrome also. I live in rural ky. I have been on tons of meds. I have almost died 2 times once from meds once from hydrophalus. I completely understand anyone who is having trouble finding answers. There is a professor in seattle washington who studies dandy walker. Go to the website called dandy walker alliance they have the info. Goodluck and may god bless.

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