Waiting...

Well, I never heard from the neurosurgeon over the weekend. I tried really really hard to be patient, but by Sunday my patience had run thin. As much as I tried to tell myself "no news is good news" I just couldn't hold out any longer. So I called the neurosurgeon on call, who pulled up Angela's chart and read me the notes from Friday's angiogram. It said, "No evidence of vascularopathy, and no evidence of Moyamoya."

That means that Angela does NOT have any vascular disease, nor does she has MMD! That was music to my ears. What we still don't know is why she's having right-brain disfunction, and if she'll continue to have it. I have lots of questions for the neurosurgeon, but until I hear from him I'm in the dark!

Things that make you go "hmmm"

Ok, very first words out of the NS's mouth were, "I don't think she has Moyamoya, and I don't think she needs surgery...yet."

He doesn't think her MRI is remarkable for MMD, (is sharing information with Stanford and Boston though) but her MRI isn't completely normal either. There is NO evidence of stroke at this point. The vessels he sees on MRI appear stong and healthy. HOWEVER, within the circle of Willis (the main vasular system in the brain) she is missing one vessel on the right side. BUT, the same vessel on the left side has crossed over to the right and seems to be doing what it's supposed to be doing, just over there instead.

He has no explanation for the 3-4 weeks that we saw dramatic right-brain decline (and I brought along letters from the ST about their observations as well.) And said that....sometimes....there can be right-brain malfunction for absolutly no reason at all that we can see on any scan. That sometimes it's just too deep for anyone to actually find. And that it will likely happen again.

That said, we're still doing the angiogram tomorrow. He said if we were looking at MMD, the SPECT scan wouldn't be that important, but since we're now looking at something different, he'd really like to have that done. It can show us brain function problems that won't show up on an MRI. But THAT test was cancelled for tomorrow because they can't do them at the same time/on the same day. We'll probably schedule it a couple weeks out.

We ended up coming home tonight. They decided they didn't need to admit her, and I needed to let Ronald McDonald house know by 4:00. By the time I knew what we were doing it was 4:30. The hotels in the area who have RMH rates were already booked. So, it was pay regular rates of $45/night, or spend the same in gas driving home, then to the clinic and back AGAIN tomorrow morning. I was all ready to get a room because I was wiped but Angela announced, "Moooooooooom! No Pool????" and I realized that was going to be an issue. So we just came home.

We have to be back there at 6:30 tomorrow morning, which means get up at 4:30. Lovely.

She also had to see the pediatrician down there for a pre-op. It was a resident with no DS experience, but he tried very hard. LOL He went out to consult with the ped, then came back and asked when her last Thyroid and CBC work was done. Hmmm...I had no clue. He went back out, then came back and told Angela, "I want you to take this paper to the lab, OK? They're going to need to get a little blood sample."

Angela looked at him like he was an alien, crossed her arms and STUCK HER TONGUE OUT AT HIM!!!!! "I said NO POKES TODAY!!!!! I'm NOT having a POKE!!!" Then refused to look at him again. We left with her trying told bag gigantic crocodile tears. When he said goodbye she stuck her tongue out at him again. LOL

So tomorrow will be another long day. BUT...if all goes according to schedule, her dad is picking her up at my house afterwards and keeping her until Sunday evening.

That means I can take a nap. I'm really needing a nap.

MRI

The MRI went fine

We got to the Neuro's office, gave Angela her night-time meds, and she slept through the entire 90 minute procedure. It was a little tough getting her to walk out to the car in the downpour we were having, but other than that it was a piece of cake.

This morning we have her IEP, then head to Mayo. It's only an hour and a half away so not a big deal. If I can get online I'll post an update tonight about what the Neurosurgeon and Neurologist say.

So what are all these tests?

Here's an explanation of the tests Angela will be having next week:

Full-spine MRI: Lots of people have had MRI's done. A full-spine MRI takes a couple of hours, and sometimes involves having dye injected. Angela had a brain MRI done a couple weeks ago and without any sedation layed perfecty still for an hour and 20 minutes! This time we're doing late in the evening and she'll have her meds so she should sleep through the entire procedure. Here's a description of it if you're interested.

SPECT: Single-photon emission computed tomography (SPECT) studies use radioactive materials to get information about blood flow and activity in the brain.

Radioactive materials are inhaled or injected and then move through the blood to the brain, where the different regions of the brain can be studied for abnormal functioning.

Angiogram of the Head and Neck:

Angiogram of the head and neck is an X-ray test that uses fluoroscopy to take pictures of the blood flow within the blood vessels of the head and neck. A thin flexible tube called a catheter is placed into the femoral blood vessel (femoral artery) in the groin or just above the elbow (brachial artery) and guided to the head and neck area. Then a dye (contrast material) that contains iodine is injected into the vessel being studied to make it more visible on the X-ray pictures.

An angiogram of the neck (carotid angiogram) can be used to evaluate the large arteries in the neck that lead to the brain. An angiogram of the head (cerebral angiogram) can be used to evaluate veins or the four arteries (four-vessel study) supplying blood to the brain. An angiogram can detect a bulge in the wall of a blood vessel (aneurysm). It can also detect narrowing of a blood vessel or a blockage in a blood vessel that slows or prevents blood flow, an abnormal collection of vessels (arteriovenous malformation), or abnormal vessels supplying a tumor. The angiogram pictures can be produced on regular X-ray films or stored as digital images in a computer.

See an illustration of the blood supply to the brain.

Why It Is Done

An angiogram of the head or neck is done to:

• Detect blockage or narrowing of the arteries in the neck that supply blood to the brain (carotid angiogram). Blood flow to the brain that is slowed or stopped increases the risk of having a stroke or a "mini-stroke" (called a transient ischemic attack, or TIA). See an illustration of an angiogram of a TIA.
• Evaluate symptoms that might indicate problems with the arteries that supply the brain. Symptoms may include severe headaches, memory loss, slurred speech, dizziness, blurred or double vision, weakness or numbness, and loss of coordination or balance.
• Detect an aneurysm in the brain or in a blood vessel leading to the brain. See an illustration of an angiogram showing blood flow in the brain.
• Investigate the pattern of blood flow to a tumor. This can help determine the extent of the tumor and guide treatment.

Thursday

Wow...Looooooooooong day here today! First, I had a meeting with a public health nurse and new social worker about the TBI waiver. (traumatic brain injury) I am in LOVE with this man. Well, maybe not HIM, but that he is here to represent ANGELA, and HER NEEDS, and not the needs of the county. So they have all the medical documentation, along with everything from the psychiatrists, etc. He is recommending her for THE HIGHEST level of the waiver, called a TBI-NB waiver. Meaning Traumatic Brain Injury -Neuro Behavioral. This will about TRIPLE her funding! A certain percentage can be used to pay me, a certain percentage for weekend respite care, a percentage for 'stuff' (we can fence that *^&$# pond in our back yard...or fill it in!) A certain percentage for training (Like the conference PLUS a PCA to go with us!!!) Oh, and ANY needs that the social worker deems immediate necessities. He wants all our doors to be hardwire alarmed with a panel that talks and tells you WHICH door opened...like "basement walk out" or "Garage service door". We could do things like put in taps that CANNOT scald her, handrails in the shower, a certain type of shower head, etc. (he wasn't saying she needed those things, just listing them as examples.) OMG, that FOUR HOUR meeting MADE MY WEEK!!!!!!

Then there were the phone calls. HOLY COW I've heard from everyone today! Without repeating it all, here's the plan....

Tuesday 8:30 pm to the hospital for a full-spine MRI. We'll not only be ruling out AAI, but checking for an other anomolies along the way. Ths is to rule out her problems being orthopedic vs. neurological. This is a 2 hour scan. We're doing it late so I can give her nightime meds and she sleeps through the whole thing instead of having to sedate her with an IV.

Weds at 12:30 arrive at Mayo Clinic for check-in. 1:20 meet with the neurosurgeon and neurologist. When that's done she'll be admitted to the hospital, stay overnight then Thursday morning will have an SPECT and Angiogram. (and a couple other tests that I've now forgotten the name of.) THESE are THE TESTS that we need done. When these are done we will know if we're going to Boston, Standford....or worst case scenario....nowhere but to sit back and wait for her to have a stroke.

So that's what I know. I'm having a good day today because I have a new love in this new social worker. He said things to me, or asked questions that I'd been feeling for months, but never been able to put words to. Things like, "So...when was the last time you were able to let your guard down and just be you?" Ummm HELLO! 11 years ago when she had her first stroke!

So, that's our day. We'll see how next week goes.

5:30 PM here

Here's what was said at our dr. appt. Our Neuro spoke with the neuro at Mayo, and was of 1:00 was still playing phone tag with the NS in Boston. BUT, the Mayo dr. said at very least Angela needs a couple more test done which goes along with what Dr. Scott said. She's now being schedule at Mayo for a PET scan. This is next in the "least invasive first" process. They'll read the PET scan right then and to the arteriogram while we're there if it's decided she needs one. One problem, on Friday we started her on aspirin therapy and she's supposed to be off that for 10 days before they can do it, BUT the Mayo guy is leaving on vacation and he wants this done before he goes. So, we'll see what he says. I'll know by tomorrow afternoon what we're doing.

Another thing was everyone wants hip films done to rule out orthopedic problems causing the gait issues. Our neuro is confident they are neurologically based, because her gait today is MUCH better than it was on Friday. Fluctuating gait is usually a neuro problem, not ortho. But since nobody ELSE has seen her walk (like the other 2 neuros) he wanted those done. We did them today before we left, and will have those results back in the morning.

I also to him about Dr. Steinberg at Stanford, and that I'd heard he had another procedure developed, and gave him the contact information. He's getting in touch with him as well.

One thing that he mentioned is that Angel hasn't had any major strokes yet. I told him Dr. Scott send me a copy of a paper he published last year that said in the 16 patients with DS that he treated over several years, only a couple had strokes. The rest had only TIA's similar to Angela's.

Speaking of that study. Our neuro has always wondered if all kids with DS have some narrowing of their carotid arteries. Dr. Scott's paper says:

Down syndrome may, through its constellation of
associated systemic manifestations, expose patients
to the cumulative effects of other associated risk
factors for moyamoya syndrome and thereby increase
the patients’ susceptibility to the disease. It
has already been noted that certain clinical conditions
are associated with moyamoya syndrome independent
of Down syndrome, including congenital
heart defects,21 autoimmune disorders of the thyroid,
23,27,28,46 and head and neck irradiation.11,25,33,37
Two of our patients with Down syndrome developed
acute lymphocytic leukemia before the onset of clinical
symptoms attributable to moyamoya syndrome;
the incidence of leukemia in Down syndrome is 10-
to 20-fold that in the general population.58,59 Both
patients received systemic and intrathecal chemotherapy
as part of their treatment protocol, and 1
patient received a course of cranial radiotherapy.
How these clinical associations independently affect
the risk for developing moyamoya syndrome among
children with Down syndrome is unknown. However,
given the risk of significant strokes among patients
with moyamoya syndrome, coupled with the
effectiveness of treatment if it is instituted before
debilitating strokes occur, we suggest that prophylactic
screening of patients with Down syndrome for
moyamoya syndrome with MRI/MRA may be useful.
A similar strategy to screen for moyamoya syndrome
among patients with sickle cell disease has
been advocated by some. Additional study of the
cost-effectiveness of this strategy may be warranted......

The association of Down syndrome with moyamoya
syndrome is still not understood. The fact that
so many children with Down syndrome have cardiac
structural anomalies suggests that the genetic defect
in Down syndrome may also lead to disturbances in
the formation or growth of vascular structures elsewhere
the body. Patients with Down syndrome have
been noted to have an increased number of retinal
vessels, compared with gender- and age-matched
normal control subjects. These vessel are said to have
a “spoke-like” pattern, with frequent early branching,
and this observation lends support to the postulate
that there is a general vascular dysplasia in
Down syndrome.55 Other vascular abnormalities described
in Down syndrome include abnormal nailbed
capillary loops and renovascular hypertension.56
Neuropathologic investigation of a child with Down
syndrome who did not have moyamoya syndrome
revealed significant structural abnormalities in vessels
of the circle of Willis, ie, irregular internal elastic
membrane surrounding regions of marked endothelial
hyperplasia, which again suggests a possible underlying
structural change in the cerebral arteries of
children with moyamoya syndrome and Down syndrome.

And so we wait to hear from Mayo.

Update 9:00

I talked to our Neuro's office. We're going in at 12:30 today to discuss "what's next". He's talking to Dr. Scott now, and has already talked to Dr. Meyer at Mayo. I'm guessing Angela will be admitted for the last 2 tests she needs, those will be sent to Boston and we'll know more from there. Dean is going with me to the appointment.

What's the hold up?

Ok, we were supposed to wait while our Neurologist is contacting Dr. Scott out in Boston and Dr. Meyer at Mayo. As of 5:30 last night he hadn't talked to either of them yet.

Last night I was up in the wee hours, and remembered that years ago Dr. Scott was VERY easy to get in touch with. So I looked him up and emailed him. I hit "send" and 4:35 this morning. At 5:28 he replied!!!!

It's clear from his reply that he has NOT heard from our dr. yet. This really irritates me!!!
.................
Ms. Spring, I don't remember your daughter's studies, but most kids with
moyamoya -- and certainly those with Down Syndrome-- have a progressive story with one stroke after another. They should undergo revascularization surgery when the diagnosis is made -- of course, providing that the arteriogram, etc show the appropriate disease., and I am certain that this is what I told you years ago. I am attaching an article on Down and moyamoya that we published last year. Your daughter needs an arteriogram and surgery should be considered for her at this point. If you would like to come to Boston for evaluation and treatment, I would be happy to help with her care. Please contact my office
............................

I've already left a message with our neuro's nurse. I tried to be nice. I tried to be nice. I tried to be nice.

Watched pots never boil

5:30...wouldn't you know I walk outside for 5 minutes and that's when the phone rings. Sadly, only a voicemail message from the Neurologist's nurse saying he still hadn't talked with Dr. Scott in Boston or Dr Meyer at Mayo.

.....................sigh.............................

TICK TOCK PEOPLE!

UGH It's 3:45 pm. I'm going crazy waiting for the neurologist to call me back. I know he's busy, and that we're not his only patient, but HELLO I'M GOING CRAZY HERE!!!! I've talked to 3 or 4 different doctors today, but none of them were the one I WANTED to talk to!

Meanwhile Angela, who is sick with strep and has a high fever, is hosting a show in our empty living room cuz it's just like a stage. Maybe I can get a video tape of of it.