HI my name is Carol I have 3 gorgeous children
Taylor who is 16
Ethan who is 7
and Brielle who is 4 1/2
Brielle was born with Mosaic Down Syndrome and on Sunday night we were given the diagnosis of MMD.
On Thursday she lost movement in her leg so I took her to the hospital it took 4 days and LOTS of tests to find out that she had a stroke.  Later that night they diagnosed MMD.

We have since learnt that she has had 2 strokes in the past that we have missed  :'(

We live in Canberra Australia are there any other Australians in here??

We are currently searching for a surgeon in Aust to do the surgery, if they cant find one here we will be going to the USA to have it done.

As you can imagine we are reeling from the news and are not sure what the future holds.

Hi Carol, Welcome to our MM family

I’m sorry to hear your precious little one has been diagnosed with MM, but I’m glad you found us. We’ve all traveled this road one way or another and understand your fears and concerns all too well. You are not alone. Please know we’re here for you if you have any questions or just need someone who understands.

I don’t know Brielle’s specifics, but I do know with a good MM experienced neurosurgeon, this disease can be successfully treated to help prevent any further strokes. I pray that’s the case for Brielle. I don’t know whether you know this or not, but incase you don’t, I thought I'd mention that many members here have mentioned a MM experienced doctor there in Australia. Prof Marcus Stoodley-Associate Professor of Neurosurgery, University of New South Wales Neurosurgeon, Prince of Wales Hospital & Sydney Children's Hospital. Email: m.stoodley@unsw.edu.au

Here is the thread where some of the past members talked about him.
http://www.moyamoya.com/cgi-bin/yabb2/YaBB.pl?num=1181213093

My thoughts and prayers are with you, Brielle and your family.

Please keep us posted.

Mar

Hi Carol,

As MAr said, you are not alone. We are from Spain and as this a very rare disease, I found here a great support. We travelled to the US for the surgery because in Spain there was not enough experience with the technique recomended for our daughter Paula, but it seems that in Australia you'll have experienced neurosurgeons. I wish you all the best (Paula was also 4,5 years when she was operated) and of course, don't hesitate to ask as many questions as you have. We are here to help, as other helped us in the worst moments.

Take care of yourself and think that being already diagnosed, is a great step (Paula was 10 months withour it).

All the best,


Paula

Hi Carol,

I'm very sorry to hear that your daughter Brielle has MMD, but I am SO glad that you took her to the ER during her stroke, & that she was diagnosed relatively quickly (although I'm sure those 4 days probably seemed more like 4 years as you waited for news from the doctors!) 

I'm also glad that you found your way to this website & the wonderful community here.  Now that the doctors know that Brielle has MMD they can help her heal.  Please post back as you're able & let us know how you are all doing.

Best regards,

Jennifer
Mommy to a 6 y/o with MMD
www.caringbridge.org/visit/rubymaejingli

Hey Carol

I'm sorry for your diagnosis but I'm glad you found us. Here's a link to another Aussy's post who was diagnosed recently and was planning to see Dr Stoodley:

http://www.moyamoya.com/cgi-bin/yabb2/YaBB.pl?num=1245931245/0#0

Good luck

Mark (Luca's Dad)

Welcome to the family Carol. I am glad you made it to here so you can find the neurologest you need. Experence is key to dealing with MM. If you have anyother questions after you see the neurologest please feel free to ask. There is a large group of us of all diffrent ages, global locations, gender, and heritige (ethnic background). I will pray for Brielle, and everyone else in your family.
Stay Strong, and don't wait,
Becky

Welcome to the group.I'm sorry for the diagnosis but glad you found your way here.It's a great group! My daughter was diagnosed at 5 yrs old,she was also born with Down syndrome.Her surgeries were with Dr.Scott in Boston.She's 12 yrs old and doing wonderfully now.Many prayers for your family.The waiting can be soooo fustrating and stressful.We're here for you....
Mary Grace

Thank you everyone for the warm welcome and the information  :).
I am expecting a phone call from our pead today at some point and hopefully he will have some news. 
I will also ask him about Prof Stoodley as he sounds like he knows what he is doing and that is extremely important to us.

I am so fearful of Brielle having another stroke that I am being an ultra paranoid mother ATM which isnt me usually.
I will keep you updated when I know more.

Once again thank you all, I am sure I will be in here a lot over the next couple of months.