Hi Mel,
   I was dx in 2002. All of us fould out by DJ a while back that this disease is genetic. The University of Texas is doing a study on moyamoya. I have told my children to get checked out and also my grandkids the family history. Do everything you can to reach this disease.
   Sharon

Hi Mel, Welcome to our MM family

I’m so sorry you had the need to find us, but so glad you did. There is so much information here that will help you understand this rare disease, and some wonderful people that will be help you in any way they can. We all understand that fear, God love ya, and you're not alone.

The best way to conquer that fear is knowledge. If you arm yourself with knowledge about MM, when you come across the lack of experience in the medical field, they won’t be able to steer you in the wrong direction like we see very often. The more you learn, the less scary it is, because you’ll learn that this disease CAN be treated successfully with an excellent outcome, IF you go in the right direction and get the proper treatment with a doctor that has experience treating this disease.

What bothers me is, if you had a stroke last year, I’m sure you had to have tests, (or you should have) but then to find out a year later you have complete occlusion on one side and extreme blockage on the other side, and MMD was just now diagnosed??? That is soooo upsetting to me and shows the lack of knowledge and experience still out there with MMD. I was beginning to think it was being properly diagnosed more often. What a crying shame. Did you ask your doctors how many MM cases and surgeries they’ve done treating MMD? I believe experience is vital.

As far as explaining it all to your daughter, it must be hard to do at 10 years old, but I feel, IMO, it’s good for them to know. Again, knowledge is the key. If you understand it, it’s comforting. I explained it to my younger niece (8 years old) like I was helping her with her homework and I explained how blood circulates to the brain and heart like plumbing goes to different parts of the house, that’s how they work properly, and you know how you can get a blockage and it can get plugged up at the sink or toilet? Well, you have a blockage in a pipe just like that, and it needs to be fixed, so just like the water needs to flow properly through the pipes for the sink or toilet to work, you need your blood to be able to get where it’s going for your brain to work properly and the doctors want to fix those pipes. In our case, along with the spiritual aspect, it seemed very comforting to her and the fact that she knew what was going on. Also, on a added note, if your daughter were to show signs or symptoms of MMD, the more she learns about it as she grows older, the better and less scary for her. I hope I explained that so you know what I meant.

It isn’t that the information is contradicting, the facts are, they just don’t know yet. The cause of MM is unknown, but because it tends to run in families, researchers think that MMD may be the result of inherited genetic abnormalities.

And about having your daughter tested, what bothers me is, the doctors there did not diagnose you with MMD until it progressed dangerously, so how would you feel confident that they would pick up on it in the early stage for your daughter? If you are ever in doubt, you have an option to mail a copy of your daughters’ films to a MM expert for a second opinion. (One who deals with MMD on a daily basis) Getting a second opinion from an expert is very wise when dealing with a rare disease. They contact you after reading your films with their expert opinion, usually for free, and then you’d know for sure, because you’re right, prompt and early diagnoses is vital.

It’s hard to recommend a certain post because there’s so many, but I will recommend the videos DJ has, they are very informative. He has a wealth of information under “

Links

”. Learn all you can.

Please know you’ll be in my thoughts and prayers. We’ll be right there with you in spirit on the 15th. Please keep us posted.

Mar

Hello Mellze and "sorry" but glad you found us.

I had my double bypass's STA-MCA's done at Stanford last August 06.

I have 5 children....my twins were ten last year at the time of my surgeries....but they took everything well.....as I explained that although I had a rare and dangerous disease....the good news was, that there is a treatment "surgery" for it and after the surgery, I should be better than before and in a lot less danger. I kept focusing on the positives and the fact that I was very lucky to have options for my situation.

Now as far as the genetic factor....that is a mixed bag. They have always felt there is a genetic link with asians and their MM, but the non-asians the jury is still out on that. The university of Texas is currently doing research which I will participate in.....I have posted the info below. (if you do test positive, they will then test ALL your family members! I believe that should be very helpful to you for your concerns)

Do let us know how you are doing and you will be in my thoughts and prayers.....hugs to ya....Diane : )


Research Study - Genetic Basis of Vascular Disease
Moyamoya Disease
We have recently identified a gene that causes Moyamoya Disease. Through our research, we have
determined that this gene is not the only gene responsible for Moyamoya Disease. We are interested in
identifying further genes that cause this condition. We are asking individuals with Moyamoya Disease to
participate in our research study to identify genes that cause this condition.
Participation would involve the following:
1) An initial telephone conversation to explain in greater detail what the study involves (procedures,
time, benefits, risks) and answer any questions. Information is provided so that interested
individuals with Moyamoya disease can make an informed decision whether or not to participate.
2) After the study is explained and consent obtained, participants will be asked about his or her
medical history pertinent to Moyamoya Disease. We will request that the patient allow us to
review their medical records pertaining to Moyamoya Disease. Finally, the participant’s family
history about problems related to Moyamoya Disease (e.g., strokes, heart attacks) will be
obtained.
3) A kit will be mailed to collect “spit” for DNA studies. Postage and containers to return the
collection cup will be provided.
4) The DNA collected from participants with Moyamoya Disease will be used to determine if the
individual has an alteration in the gene identified for Moyamoya Disease. These results will take a
few months and participants will be notified with these research results. If a participant tests
positive, then follow-up counseling will be provided and other family members will be voluntarily
recruited into the study for subsequent testing. If the participant test negative, their DNA will be
used for studies to identify other genes that cause Moyamoya Disease.
These studies will be done on a confidential basis and at no cost to the participants. Results will be
reported directly back to the patient as research results. Interested individuals with Moyamoya Disease
or parents of children with Moyamoya disease can contact us for more details at 713-500-6865 or
Van.Tran.1@uth.tmc.edu (Van Tran-Fadulu) or 713-500-6723 or Bourgeois.Scott@uth.tmc.edu
(Dr. Scott Bourgeois).

Hello Mar....

Boy...wouldn't that be great if they tested us all with those diagnostics!

But the way I understand it is like this: they will take a spit specimen and if you test positive with the genetic marker....then all your family can be tested as well...ie: spit analysis done! to see if they also carry the genetic marker for MM. Then if so....it would be your responsibility to seek follow-up care and monitoring to see if they ever develop or possibly have MM. It is a good place to start.....and if you don't carry this marker.....chances are your MM might not be from your great, great grandma and will just remain a question as to why you were so LUCKY to get this disease!

here is what they said:

The DNA collected from participants with Moyamoya Disease will be used to determine if the
individual has an alteration in the gene identified for Moyamoya Disease.

If a participant tests
positive, then follow-up counseling will be provided and other family members will be voluntarily
recruited into the study for subsequent testing. If the participant test negative, their DNA will be
used for studies to identify other genes that cause Moyamoya Disease.

hope that helps......smiles....Diane : )