I have muenke syndrome...

[Lisa]

just had our consult with the genetecist. I tested positive for muenke. This actually makes me feel really good about Bradley's prognosis now. I am completely healthy, with no health problems and had no clue I could have something like this. So anyone can have the syndrome and not know it. I was right on target developmentally as a child, and have no signs of hearing loss, so I'll be praying Bradley has the same outcome.

[HaydensMommy830]

Wow Lisa, thats crazy that you have had it all along and never knew it. That does give you a positive outlook on it where Bradley is concerned. Keep positive!

[EmmaLacey]

Wow! I can't believe that you just found this out now. Hopefully Bradley will live as healthy and normal a life as you have.

[Josephsmommy]

That's awesome that there is a huge chance that Bradley won't have any effects from the syndrome!

[beccad]

Lisa that is amazing that you did not even know that you had this. I know you must feel much more positive about Bradley's future. I guess that is a blessing for him now growing up with a mom that has the same thing.

[three.little.boys]

That is amazing Lisa. While I am sorry you are +, I guess it doesn't really matter, except to show you that Bradley will be a smart and successful adult!!!

[mckennasmum]

wow, what a shock! Great news for Bradley's long term though!

[Abby'sMom]

It's comforting to know that just because a geneticist finds a gene mutation it doesn't mean it's going to hold our children back in any way. I think as medical advances are made in genetics that we're going to find that many of us have some sort of "syndrome" that we otherwise wouldn't even know about.

I'll continue to pray that Bradley's only symptom of Meunke is his cranio. and that it poses no future problems.
:hugg

[Christina's_Mommy]

Well, it's good to know that you had no problems from it. I didn't know I had it either till after Christina was diagnosed. I did have some developmental delays as a child (speech mostly, some OT) and have hearing problems. I know that Christina has the developmental delays (OT, Speech) but hopefully it won't be like mine and hope that she doesn't get the hearing problems. I didn't have cranio as a kid but Christina did. We both (and my mom though not diagnosed) have very short fingers and one pinkie is shorter then the other on the three of us, (Right hand)

Thanks for the update Lisa!! I pray that Bradley has the same outcome as you. :)

[Lisa]

Carol,
I do have the broad thumbs and big toes. All of my toes and fingers are very short and fat. My pinky fingers are crooked also, but none of these characteristics would cause concern or even appear abnmormal.
I agree Mandy, that as more studying is done in genetics, more and more people will be classified into syndromes. Our Dr. reminded us, that all a syndrome means is that people with this "label" share some similar characteristics. It's not as scary sounding when you think about it that way.
Oh, and our genetist also corrected me and said the proper pronounciation of the word muenke is like moon-kah. She did her fellowship with Dr. Muenke himself, so she knows how to pronounce it. Glad I don't have to worry about being referred to as monkey syndrome now, lol.

[craniomommynbaby]

I'll bet that it is a relief to have some answers and know that a syndrome does not mean that you have to have all the characteristics. That is what scares my siblings. They did not have cranio, but they wonder if they might unknowingly have the syndrome and pass it on to their children. I think that they had a harder time dealing with Simon's surgery than we did, and they just cannot bear to think of going through it with their own. I have no idea how to reassure them.

[Lisa]

We have the same issues here Cindy, my sister is concerned for her future children now. Now that we know I have it, she can be a carrier of it and not even have it, and pass it to her children. There is also the chance that our older son that doesn't appear to have it, can pass it on to his children, and whenever there is a chance of the syndrome passing, of course cranio can occur, I just hope they see how well Bradley did, and not in any way let that deter them from having children.

[Christina's_Mommy]

Carol,
I do have the broad thumbs and big toes. All of my toes and fingers are very short and fat. My pinky fingers are crooked also, but none of these characteristics would cause concern or even appear abnmormal.

I totally agree. I had no clue what-so-ever that they were even "shorter then the norm" till we saw our genecists. My thumbs are low-placed. I think Christina's are also. That is when she told us about the fingers. From what she told us, our toes are just like what you said also but I don't see the difference. :thinking:dunno

Oh well. I guess if I don't see any difference really then nobody else really will except those who know what they are looking for and that isn't the general population.

[Lisa]

I know, I am thankful in a way, that if it had to be a syndrome, it was one that is very mild in presentation, and most will never even know he has it.

[Christina's_Mommy]

As far as your sister, from what our genecists said, you either have it or you don't. There is no carrier. If she tests positive, then yes the chance is there for her kids. If she does not have it, then she shouldn't have any problem.

As far as Trevor, could be be tested?

[Lisa]

Trevor can be tested, but I will not be putting him through that. When he gets to the age to have children or to the age where he wants to know if he has it, we are leaving that up to him. Right now we don't see any reason to have him tested.

The type of muenke you have depends on the carrier issue. Our's is a mutation of the FGR 3 chromosome, and that type is passed down and can be carried through generations. Our genetecist did say that you can be a carrier. Because she told us there was a 25% chance Trevor's children could have it, even if he doesn't.

[melsch]

Well, I know the diagnosis is a complete bummer, but I think you have a great attitude towards it. It is living proof that Bradley will do fine. As for Trevor, I think it's a great plan to let him decide when he is older. Why put him through it at this age...nothing you could benefit from it...

[Janet]

My goodness Lisa...I'm just seeing this now, that's incredible that you are just finding out now.

[Christina's_Mommy]

I didn't know there was more then one type. I just thought that there was only one "form" of the Muenke gene....Hmmm..

[Monica]

That's amazing that they just found this. I was interested in hearing some of the characteristics. That we know of, we have no syndromes in our family, but my oldest has a heart murmur that they say is most likely harmless. But the doctor told us, "when you start looking for anomalies, you're most likely going to find them". I'm glad you have some answers and certainly you can now be a positive example for Bradley.

[Elizabeth]

Lisa, I just read this thread! I have been so out of the loop the last couple weeks.

Bummer about your diagnosis, but I am so glad to know that Bradley's outlook could very well be as great as yours! He has done so well already. I think he's such a little sweetie-pie! Glad to know that he could be totally "normal!"

Now, as for the Moon-ka thing...I'm still gonna call it monkey. It's a lot more fun. Gotta have what little fun we can with this, right?? (Actually, I have always read it as "mewn-key" but have on occasion referred to it as monkey on here. I hope that no one is offended!)

[cheryl2]

I always read it as "mwenkee"

[sophie'smom]

Hi Lisa, this is so interesting and it also offers much hope for all of us I think. I am waiting to hear if my little Sophie has SC - she has so far tested negative for Muenkes, Crouzons, and Pfifer. I agree that many of us probably have something and just don't know it. With genetics advancing they are able to test for things that we had never dreamed of. Good and Bad I guess - ha? I am also very hopeful that even if any of our children do develop some sort of issue from a symptom, treatment today is excellent and I think their chances of overcoming are tremendous. Thank you for sharing the news as it offers lots of hope.

[momtokendall]

Hello all-
Just wanted to add some words of encouragement, because I know how worried I was when Kendall was a baby (she is 6 now). Kendall (dx with Muenke) did receive OT, but was discharged last spring. When she was discharged we had full cognitive testing done, and her IQ came out in the gifted range, she is a bright, lovely girl, who has a good future ahead of her.

We did participate in the NIH study and got to meet Dr. Muenke himself, which was cool! And there is only one form of the syndrome. You either have the mutation or you don't. You could have the mutation and have little or no symptoms, but you still technically "have" the syndrome. There is no symptomatic diagnosis, only the DNA test can confirm that you have the syndrome.

[Lisa]

Hi Kendall's mom,
I believe I joined your group on yahoo sometime ago, but never really got to talk with you much. That is wonderful to hear that Kendall is doing so well, I hope the same for my Bradley. Welcome to the group and I look forward to talking with you more.

[momtokendall]

Hi Lisa!
I remember you, Bradley is so cute! The yahoo group isn't very active, but I always keep it on just in case- I remember feeling so alone when Kendall was diagnosed- no one had heard of it!

It is nice to hear from you- you sound pretty upbeat? Awesome that you have done so well you didn't even know!

[Ben's Mom]

My son was diagnosed with Muenke syndrome in 9/2006. After genetic testing, we found out my husband and his father both had the syndrome. Neither had andy cranio issues. My father-in-law does have some hearing loss in one ear.