Help!!

My daughter Lindsey had MM surgery on March 31, 2010 and also has Down Syndrome and heart defects.  She just celebrated her 23rd birthday on July 29.  She is doing great.  Still having little TIA's and the heat really gets her bad but she is doing great in comparison to before surgery.  We are going back to Standford on Oct 12 for our 6 month checkup.

I have a son who also has Down Syndrome and heart disease.  He will be 26 years old in September.  For about 6 years he has been declining in health and cognative abilities but nothing is ever diagnosed.  About two months ago he had an episode (for lack of a better word) that was really simular to what was happening to Lindsey.  It was shocking and we kind of blew it off because I think we were still in shock over Lindsey's diagnosis and surgery. He also began complaining of headaches and has them now on a regular basis.  On July 4 he had another episode which made us realize that we can't ignore it.  It is real.  Again two weeks later.  When he has the episode he is unable to lift his arms and his left arm begins to shake sort of like what Parkinson's disease looks like.  I am beside myself.  We have made an appointment with a neurologist but unable to see her until August 31.  He will have an MRI this week but I'm not sure how much it will show.  He also has brain calcifications in 3 different areas of his brain.   Part of me can't believe that this could be happening again but part of me feels like it just might be.  We were also told this week that his aortic valve is now leaking severely and he will have to be closely monitored to determine the best time for valve replacement surgery.

What are the chances that a 2nd child could have the same "rare" disease? 

I was not going to write until I found out more information but I'm going crazy with worry and thought some feedback might help me out.

Thanks in advance for taking time to respond.

Sincerely,

Corinne

Corinne, I'm very sorry to hear of all the health issues for your family. I hope all goes well. Both my daughter and I have moya moya. We're  doing well. I believe there have been at least one  pair of siblings (twins) with moya moya on this forum. I don't think anyone can definitivley say what the chances are since this is a rare condition. Some of the reports out there indicate there is no hereditary connection but there seems to be some genetic correlation. Again, I hope the best for you and your family.
Russ

Corrine -

I am very sorry to hear of all the health concerns for your family.  Sounds like you are a strong woman and have courage to face what life gives you!

There are families on here that have two sibilings that both have MM.  My friend Michelle and her brother both have it....and there is even at least 2 sets of twins that both were blessed with MM.  So it's a very real possibility. 

Hang in there!

-Shari

Corrine
I am very sorry to hear of all the health issues your family is going through. There are quite a few familys that have the parent and a child or children that have MM. I hope you are using the same nurologest for your son as who diagnosed your daughter.

My brother when he was the same age as when I had my stroke started to get migrains. He was worried that he might have it. so my nurologest took a look and ran sone tests and he does not have any signs of MM. Since MM is concidered progressive my brother will continue to be monitored like I am using a journal that captures all the migraine info (where were we when it started, how long did the medication take to work, ect)

I hope this helps!
Stay strong,
Becky

In my family there are two cases of Moya Moya: my brother and myself. My sister doesn't have it. To this day no one can tell me for sure if it's hereditary or genetic.

My twin sister and i both have MoyaMoya. She was diagnosed 5 months before me. That was in 2003 and 2004... Whether its genetic or not, im not sure?? although both of us have participated in several genetic studies..

it is totally possible my twin sister and i have MM!!!!!!!!

twin2

Hey Everyone,

Thanks for responding.  WOW, so many with more than one.  I guess we are doing the right thing by getting him tested.  We will see the same neurologist, however, she missed it in Lindsey, but Lindsey was sort of a complicated case.  We found Dr. Steinberg on our own.  That said, she does have 3 other patients with MM that she has referred to Dr. Steinberg, so she knows what to look for.

Sometimes I just second guess my decisions because you think that this is not really happening AGAIN.  I worry because Marc (my son) is just not as strong (it seems) as Lindsey is.

MRI tomorrow morning.  Maybe it will reveal something.

Thanks for the thoughts and prayers.  I'll write something if we find out.

Sincerely,

Corinne

Well....this is a topic close to my heart. I have tested positive for a genetic link to Moyamoya. There is an ongoing research with Stanford and the University of Texas and I was tested shortly after my surgeries in 2006. At the time, I was 1 of 8 that tested positive out of 134 MM'ers tested at Stanford. I am not Asian, I am American of English decent. I have since tested my children of which 2 out of the 5 are carrying the gene as well. (they happen to be twins) It was concluded that my deceased father carried the gene as his living brother (my uncle) also was a positive match. The results of the study have yet to be published. For now, all I know is that it is linked to vascular disorders (heart problems) and AAA's (Abdominal Aortic Aneurysm) My Dad's side all had heart problems! Guess with me, it reared as MM! If you are interested, I am pretty sure they would love more "subjects" for testing. The larger the pool the better the research. It is a simple spit kit to start, then you can do blood and even tissue samples! I did all of the above as they wanted everything, once they found a match! LOL

For Asians, they already feel there is a familial link, for some, MM is prevalent with other disorders, ie: down syndrome, dwarfism etc.... and now, they have isolated TWO separate genes shown to be linked to MM. (I am positive for 1 of the 2) Alas, there are still many MM'ers to which their MM will always remain a total mystery.

I hope this is helpful.....smiles, Diane : )

Contact info for the MM research is:

Monika Varga
Clinical Research
Neurosurgery Department
Stanford School of Medicine
mvarga@stanford.edu

Hey Diane,

Thanks for sharing the information.  I think my husband and my daughter participated in the study at Stanford.  My daughter who has Moyamoya also was born with congenital heart disease and has had 4 open heart surgeries.  My husband had two heart attacks at the age of 45 so they asked him to participate in the study to see if his heart condition had any link to Lindsey's moyamoya.  At least this  is what we understood.  At the time we were still in shock at learning that Lindsey had moyamoya.  We go back to Standford in October so I will inquire about the study once again.

The more research I do on Moyamoya the more I realize that if my son also has it, it would answer a lot of questions that we have had with his health through the years.  It would all make sense.

Thanks for taking time to respond.  I appreciate the information.

Corinne

My pleasure Corrine!

And you have so much on your plate. I am sorry for all the uphill struggles you have to endure. My husband is a Peds Cardiologist and I often hear about all these little ones having heart surgeries....then add MM to the mix! May God bless and give you the strength continue through special each day.

take care....Diane : )