UPDATE to Genetic testing, POSTED ON 8/12/08 ---- to this original post started on 12/08/07----(see further below in thread)




I have been following this subject closely....and correct me if I am wrong....but I have not seen anyone post a positive result yet?????

WELL, let me be the first to say...... Theresa from Stanford called me last night.....seems they are in collaboration with the Houston Study and out of 92 Stanford (Dr Steinburg's patient's) I was 1 of the 3 that came back positive!!!!

Not a result I would have wanted to see.....but better to know your enemy. This is the same defective gene that is identified with AAA's (Abdominal Aortic Aynurisms ~sp?)
It is Waaaayyyyy to early to even know what any of this means. It is a milestone...but unchartered territory.....we are taking the first baby steps.

Hmmm....now to get a blood sample from all my kids....they are going to love that!!!!!

hugs to all.....Diane

You bring up a good point Newt.

I am not really sure.....this all caught me totally off guard.

I will line up my follow-up questions with my next phone call. Hmmm....two markers?

Did they tell you they found "1" on you and not the other?

I am certainly interested in hearing from any of "us" positives and what similarities/backgrounds we might have in common. Scientifically....this is so very interesting.....but personally....a bit frightening.

Seems....if MM is one in two million.......those with the markers might be one in 50 million????? Guess I really am extra "special" LOL

smiles....Diane

Hey Diane,
     I wasn't told I had the marker.  I just thought it was interesting.  I had so many problems with the samples I am not even sure U of Texas got a good sample.  I emailed Ellen Regaldo about it but did not hear back.   You are just extra extra special! ; ;
                           Natalie

  My daughter is going in for surgery 12/20/07.  We took her to our local ER, because we thought she was having an appendicitis.  They did a CT scan (the only test they did) and found a mass on her liver, and we were told she probably had cancer.  We immediately had her transported to the Children's Hospital where she had her EDAMS surgeries performed, because we do not trust our local hospitals. They did more tests and concluded that she has a tumor hanging from the left lobe of her liver that contains blood vessels.  After consulting with her Neurosurgeon they agreed that she would have to be off her blood thinner a week before this surgery.  The good news is that it is highly doubtful that this tumor is cancerous, and it can be removed with minimal involvement of her liver, because of it's position. She was recently diagnosed with Livedo Reticularis, which she had this since the day she was born. I wonder if this all ties in together?  The Pediatric Surgeon told us that in the case of rare diseases they never rule out any correlation, because sometimes this is how developments are discovered. I called for information on the genetic testing study in Texas, but never received a return call. I am grateful for the Moyamoya family and find this website invaluable.  Pray for our family, and I will post any updates.

Hi guys....this is probably a bit long...but it is the original protocol / consent from the study hope this helps....I will post back soon as I hear some info: thanks


EMAIL FROM DR. BOURGEOIS APRIL 07

Bourgeois.Scott@uth.tmc.edu

You are being invited to take part in this study because you or a family member has vascular
disease, such as coronary artery disease, a stroke, or peripheral vascular disease. This research
project is being conducted by Dr. Dianna M. Milewicz from the University of Texas Medical
School at Houston.
Your decision to take part is voluntary and you may refuse to take part, or choose to stop taking
part, at any time. A decision not to take part, or to stop being a part of the research project, will
not change the services that are available to you from the physicians or hospital.
You may refuse to answer any questions asked or written on any forms.
This research project has been reviewed by the Committee for the Protection of Human Subjects
(CPHS) of the University of Texas Health Science Center at Houston as HSC-MS-06-0564.
PURPOSE OF STUDY:
The primary goal of this study is to identify the genes that, when altered, lead to vascular
diseases such as coronary artery disease, strokes or peripheral vascular disease.
INCLUSION CRITERIA
(1) Sbjects with premature onset of vaso-occlusive disease (defined as <55 years of age
for males and <60 yars of age for females), including strokes, coronary artery
disease, and peripheral vasculardisease.
(2) Patients with the diagnosis of Sneddon’s syndrome.
(3) Patients with the diagnosis of Moyamoya disease.
(4) Children with vaso-occlusive disease, including stroke.
(5) Family members of patients with a family history of vaso-occlusive disease or
mutation.
EXCLUSION CRITERIA
Individuals who do not have a vascular disease, premature vaso-occlusive disease or do not have
a family history of it or any of the above mentioned conditions.
The tissue collected from you will be used to grow cells for further studies. The cells may be
kept frozen for further study at a later time. The cells and DNA samples will be banked for
studies until the sample is gone, which may take years. The samples and medical information
from the questionnaires may be shared with other investigators at other sites who are studyingindividuals with aortic aneurysms and dissections but your name and any other information that
can identify you will not be shared and will be kept confidential.
If you leave outside of the Houston area, we will send you a kit to collect saliva, and a prepaid
mailing kit to send it back to us. Alternatively, your physician may draw your blood and send it
to us.
You will be asked to donate samples only once if there are no problems with the laboratory
analysis of your samples. Your medical records will be obtained from your primary doctor.
These studies may determine if you have an alteration in a gene or protein. Any results will be
reported back to you or your physician. The tests that we do will be done in a research lab and
should not be used to make any clinical decisions until the results are confirmed by a clinical lab.
Information on how and where to send your samples for confirmation of your results by a
clinical lab will be provided to you.
It is possible that this study will identify information about you that was previously unknown,
such as information about a predisposition to a disease. Such incidental findings, if any, will not
be shared with you or anyone related to you unless the incidental finding is a risk for a disease
known at the time of testing to be likely to cause premature death if untreated. Should such lifethreatening
results be uncovered through these research studies, you will be notified via certified
mail and/or phone call. Genetic counseling will be provided to you and your family members to
explain these results.

Oh and here is a phone contact I found: (sorry to be giving everything "bit by bit" lol!

QUESTIONS:
Dr. Dianna Milewicz, the principal investigator for this study, will be glad to answer any further
questions that you may have about this research study. You may contact Dr. Milewicz’s office at
(713) 500-6715 at any time during the study.

Natalie,

Can I assume you have had treatment for Moyamoya? 
Did your doctors indicate that the two diseases were related?  Did you also undergo treatment for the  Fibro-Muscular-Dysplasia?  If yes, what is the treatment?  More surgery? What kind?

Sorry about all the questions.   

Thanks,
Cynthia

I have sent my samples in for the study and i have not heard anything yet and I am wondering if there is any thing that i should do.  please let me know thank you. Denise

UPDATE on the genetic study......one of my paternal uncles tested positive.....and both my 12 year old twins have also tested positive.  (I have not told them anything as it would only upset them) My older boys do not have the genetic marker. (well actually, 2..do not, and 1 chose not to participate and remains an unknown)

No one has really told me anything of substance and I think, as it is so early in the research process...they really don't know what all this means  Everyone is keeping a low profile and just gathering data. I am interested in any others here on the site that may have "hit the MM lottery as I did" at least we can have an exclusive club within the club...lol!

The only thing I think (?) is the marker is mostly a marker for AAA's (abdominal arortic aneurysms) and somehow MM has shown a higher prevalance with people having a predisposition for / or associating with AAA's.
So, at this point....the fact that some of us have this marker.....would make me concerned more for the heart risk....and I would not feel that any emminant danger of MM is written in their future. I do think that they should always be more aware of their risk factors....and if something does seem amiss, then (armed with this info) they should be taken more seriously than the average patient.

That's my 2cents on it.....Until they tell me otherwise.. ???

best regards.....diane : )