I'm Leah, mom to Angela who is turning 11, and has Down Syndrome. I know Mary Kate from another site a couple years ago.

I need help. Or insight. Or someone to tell my my kid is going to survive this. For the sake of saving time and energy, I'm going to repost my blog entry here. I use my blog to keep family and friends up to speed. Keep in mind this was written so that those unfamilair with MMD would sort of understand it, so I left out some of the big words, etc. This is from Friday last week (April 27th)
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Early this morning we had Angela's appointment with the neurologist. Since her MRI was done a couple weeks ago and I hadn't heard anything, I'd decided that "no news is good news". And then a few days ago I realized...hmm...when her EEG was done they called me in a couple days to say it was normal. When her EKG was done they called me in a couple days to say it was normal. I haven't heard boo about the MRI....and now I know why.

I really didn't think it was possible, but what Angela has is worse that MoyaMoya disease.

In Moyamoya disease, there is a narrowing (sometimes blockage) on the internal carotid artery in the brain. As the narrowing progresses the brain, being in short supply of blood and oxygen, will start to create new blood vessels that kind of search out new blood supply. When this happens they can do a procedure, (very basic explanation here) that gives the brain a new blood supply to leach onto to. It's major neurosurgery.

So, as an infant Angela was found to have a narrowing on her Right carotid artery. But there was no revascularization, however her SYMPTOMS followed those of MMD. We've watched her all these years. About 3 or 4 years ago she started having TIA's (transient inschematic attacks, which are basically like mini-strokes.) but her MRI showed now changes in either the narrowing or revascularization, leaving everyone puzzled.

About 4 weeks ago she started having what are called "Tripping spells". Apparently these spells are indicative of a new blockage, so we repeated the MRI.

The MRI results are devestating.

Angela now has a significant blockage on her LEFT carotid artery that was not there before. It is WORSE than the original blockage on the right. There is NO revascularization going on. THAT is the worst part of all. If there were revascularization starting, we'd have an operable situation. Without the revascularization, the problem blood vessels that are located in the brain stem are not operable.

In the 4 weeks since the Neuro last saw her, Angela's gait has changed significantly, and it's because the right side of her body is now affected as well. Her speech is somewhat more difficult to understand. Her pupils are uneven. She is very tired. He said the behavioral issues are most likely because she ALWAYS has some level of a headache, and the escalations are problably when she's at more of a migrain level.

He is contacting the Neurosugreons in Boston and Mayo who specialize in MMD and have more experience with the disease in kids with DS to see if they have any thoughts. All of her records are being sent to each of them. All the rest of her symptoms fit MMD, the narrowing on both the left and right Carotid arteries fit MMD, but the lack of revascularization has him puzzled.

Angela's biggest risk right now is a massive stroke. A massive stroke on the left side of the brain at the level of the brain stem will not be survivable.

I am in shock and numb. I have known for years there was something more happening. In the last month my stomach has been in knots knowing that there is something more. But I expected him to say the MMD had progressed to the point where it's time to do the surgery. I didn't expect to be told it's likely there is nothing they can do.
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Ok, so now I've had a few days to digest this. As of 5:30 last night we still have not heard from Dr. Scott in Boston or Dr. Meier at Mayo. (I am only an hour from Mayo, by the way.) I've met Dr. Meier years ago, but have never met Dr. Scott, just emailed with him a few times.

So, I'm still scared to death. What our neurologist wonders is if anyone (particularly Scott or Meyers) has every seen MMD where the brain doesn't start revascularizing? He's seen several kids with MMD, but Angela is the only one with DS that he's seen.

I feel like I'm living with a timb bomb. Angela's speech has become more difficult to understand since Friday, but we haven't seen anymore tripping spells. We have seen episodes of her right arm trembling.

Please tell me somehow our neurologist is wrong.

Ok, so clearly our Neurologist hasn't tried to contact Dr. Scott yet, because I did at 4:30 this morning and he's already gotten back to me!!!!

He wants to see her, and says that if there IS revascularization she needs surgery NOW.

I'm really irritated with our Neurologist right now.

I can't tell you that your neurologist is wrong, but I can say that he may well be overly pessimistic.  While, if there is no revascularization going on, an indirect bypass may be unworkable, Angela migh still be a good candidate for a direct bypass surgery.  While an indirect bypass would involve "planting" the STA to the brain and waiting for new collateral vessels to form, a direct bypass would take the STA and fuse it right into the MCA, providing virtually instant new blood flow.

I agree with Mar, you should have your daughter's films sent to Dr. Steinberg.  His opinion is free, and he may prove much more optimistic than your daughter's neuro.

I should know.... my daughter was dx with moyamoya after suffering two strokes.  Her neuro in Philadelphia said she probably wouldn't live more than two weeks, and that there was no hope.  Dr. Steinberg , however, thought she was a good candidate, and we opted for surgery at Stanford two months later.  Daphne had those strokes when she was 13 months old, and now she is over 3 and a half years old and has suffered no further damage, (thank God) and has dramatically improved blood flow. 

I am sorry for all that your going through right now.  Please keep your hope.  I know how important it is to have hope    My prayers are with you and Angela.

Jenny (www.daphnestory.com)

I reiterater what mar and koti say.....best of luck love and prays....mike