Sturge-Weber syndrome

[_wb_]

Yesterday we got the results of an MRI-scan on my 4 month old daughter Lola: she has the Sturge-Weber syndrome. This is very bad news for me and my wife, our oldest daughter (2 years old) is too young to understand.

Lola didn't have any seizures yet so far, but it is very likely that they will start before she is one year old.

We had a holiday planned after the MRI scan. Of course we hoped to get a different test result, but anyway it will be good to take some time off to process the news.

 

[levi]

Argh, bad news! You and your wife, and especially Lola have my best wishes. Take all the time you need.

 

[Fzero]

Same from here too _wb_, I've not heard of that until now, our best wishes for your family

 

[mcobit]

That is bad news indeed


My best wishes to all of your family.


Hope everything will turn out ok.

 

[milkshake]

Sorry to here that, I hope things work out for the best.

 

[moxie]

Ouch

 

[ingoreis]

Realy bad News from such a nice and friendly Person like you.

I hope only the Best for you and your Baby.

Maybe it was realy a Faildiagnosis and its not realy so bad.

Sorry for my poor English.

Best Whishes from me and my Girlfriend.

 

[Caine]

Oh no...that sounds terrible. I'm at a loss for words...

Best of luck to you guys.

 

[Klumpen]

Oh shit. :/

I never heard of this before and it seems quite rare, I wish you the best in handling it.

 

[Null]

+ your family at this difficult time.

 

[_wb_]

It is rare indeed, and it can happen to anyone, it's just a matter of very bad luck -- or more precisely, a rare somatic mutation in gene GNAQ on chromosome 9q21.

Prognosis for Sturge-Weber is very uncertain: basically she could grow up like a normal child, or she could be severely physically and/or mentally handicapped. Or anything in between. At the moment everything is still OK, but it's not likely to stay that way. Not impossible, but not likely. She could have her first epileptic seizure today, next month, in a year, in two years, in ten years, or never. Most likely it will start before she's two years old. Maybe we will be able to control the seizures with medication, maybe not. Maybe she will need brain surgery. Maybe she will have a normal intelligence and no physical problems, maybe she will have some mental retardation and muscle weakness on one side, maybe she will be severely mentally disabled and paralyzed on one side. The uncertainty is a huge sword of Damocles for us. It's hard to adjust our expectations and hopes with such a range of possible outcomes. We're afraid to hope for the best, because that's what we have been doing so far, and it hurts to get those hopes shattered. All we can do is prepare for the worst, adjust our expectations to the realistic, and try to keep hoping for the best.

Anyway, thanks for your messages of support!

 

[comradekingu]

Support from Norway. Your family unit seems like such a nice one, and that is most important to a child. Im happy for lola in that she has you.

Edit: email sent.

 

[Monkfish]

You should take all the time you and your family need to adjust to this, at least you will all support eachother through whatever happens, and be aware that people here will support you too if you need it. I myself am a father but i also have certain physical issues so i'm aware that it can also put strain on others around me but as long as everyone supports everyone else then things are a little easier. Just be as happy as you can with your family, things will gain a certain normality after some adjustment.

 

[rohezal]

I wish you and your family the best.

 

[Hồng Thất Công]

I'm dumbfounded by the news! Wish lola and your family the best! 

When my wife was 2-3 months into her pregnancy with our twins, doctors diagnosed the twins with downsyndrome.  We consulted another doctor, took the test, same result again.  We were devastated.  They advised us with two choices - terminte the pregancy immediately, or, raise the twins with downsyndrome for the rest of our lives.  We did not hesitate and chose the 2nd choice.    The hostpital put us through psychological therapy to ensure we could deal with the situation when the twins arrive.  My wife and I could'nt eat, sleep, or relax for a second for another six months.  We always prayed at night that all the test results were wrong.  

When the twins arrived and, guess what, they were perfectly fine.  They just turned six the other day and my wife and I looked at them and we were literally in happy tears due to the decision we made.  

I wish you and your wife and lola the best!

Let me know of anything I can do to help.

Shenmue

 

[Mr_Loon]

Sad news, all the best to you & the family. Hope you have a great holiday and hope you're the kind of guy who can take each day as it comes.

 

[Løra (Lolla)]

I'm ever so sorry to hear this news about your darling baby girl Lola. My thoughts are with you and your family. We are all here to support you. *big big huggles to Lola from me & Isobella*

 

[Farox]

This indeed is a very sad news.

I wish all the best for Lola and all of you.

 

[KickAss]

my thoughts and hopes are with you.

as a father i can not imagine the terror you must be going through.

i have seen a couple of sturge weber patients (most of them babys and young children during my time in the university eye clinic) and i can tell that the disease varies a lot in each individual.

lots of strength and peace for your family.

@ shenmue: respect, dude. takes a lot of courage to face such upcoming grief willingly. happy to hear your kids are fine

 

[Ziz]

I wish you and your family the best, too. :\