meckel gruber syndrome

is there any couples here that are carriers of this rare disease meckel gruber  sindrome (syndrome)?
please post

[mksmom]

Yes i am, and I feel so lonely.
My baby was diagnosed prenataly in feb 2007.
my husband and i choose to end the pregnancy - sadly- at nearly 23 weeks.

[frmusany718]

It's great to hear from you.  I have been searching for a long time for someone else with this problem.  How was it diagnosed?  
PS I'm trying to figure out a way so we can send each other private messages.

[cakesw]

Yes, I am also.
Our baby was diagnosed in December 2008.   It has been very difficult to find others who have experienced the same shocking news.

[cakesw]

I am sorry I meant Dec. 2007, when we got the diagnosis.  

[frmusany718]

thank you much to all for responding.
what I'm really looking for is to communicate with people with this problem.
so  if there is anybody with this problem please post here AND send me a private massage

[cakesw]

I didn't think that there could be survivors with this disease.  My husband and I are both carriers- one good gene, one bad gene. We both had passed our bad gene onto the baby,  that is how our baby got it.  Neither of us have any signs or symptoms of being a carrier of this disease.  All of the research I've done has led to the conclusion of death shorty after birth, if they make it that far.  
Am I misinformed?  Are there survivors of this disease?  

[frmusany718]

you're right it is 100% fatal.
me and my husband are carriers to and found out about it when a pregnancy was affected.
what i meant other people with this problem i meant couples carriers that have in each pregnancy a 1/4 chance of it being affected (and the baby not surviving)
why don't you send me a private message on this site?

[kaliwali]

We are another couple who carry the recessive MKS gene.  Our first baby was diagnosed at 16 weeks in November 2003.  It was a terrible shock after years of infertility.  We have since had 3 further pregnancies - 2 miscarried and one diagnosed at 12 weeks with MKS.  It is unbelievable when you consider there is a 75% chance the baby will be OK.  So, at 43 years old I am 11 weeks pregnant and go for my scan and have bloods taken to search for MKS in a week and a half.  We are feeling very positive that this time the baby will be clear of MKS.
It has been a tough 5 years but we have not given up.  

[frmusany718]

I hope everything tuns out OK with you. Just curios did they identify the gene in your case? is CVS an option to check if the pregnancy was affected?
you can send me a private message.

[garfield3]

Hey, I just wanted to let you know that I'm here now too.

[garfield3]

You don't know me yet, but I've been emailing back and forth with frmusany718 for a couple of months now.  Please feel free to email me personally at any time.  We can share our stories if you're interested.

[rebneter]

My daughter was diagnosed with MKS3 in june 07, we chose to continue the pregnancy. i had her at 28 weeks (sept 07). she lived for 48 precious minutes. we just found out we are expecting again last week. not looking forward to going through this again...

[cakesw]

It has been awhile since I've written but I wanted this part of my story to be posted.  As stated earlier we found out that our baby also had this disease.  We decided to have it. I gave birth to our boy at the beginning of April.  He came on his own at 37 weeks.  He lived for 9 hours and 21 minutes.  As sad as we are for our loss, we couldn't be prouder of our little angel, Tyler.

[futurehope]

I had 3 pregnancies before. We found out our first daughter was diagnosed with MKS3 in May 06 (17 wks) and second one found out in Dec 07 (12 wks). We decided to end the pregnancy. Really can't continue and suffer from this. It was really sad and in shock. Never hear about this disease before! The third time pregnancy was miscarriage at 6 wks in April 08. I couldn't believe 1/4 chance could happen more than once. Really hope that all of us will have health baby on next time. Does anyone know PGD can screen the MKS or not?

[frmusany718]

Hi I'm so sorry for your loss. There are many genes that may cause MKS some have been identified some not, you need to have blood work to check which gene your a carrier of, if its one that can be identified then PGD is an option for you.
PM me for more information.

[jadedme]

i have also been affected by meckel gruber.
we painfully terminated our first pregnancy due to this at 23 weeks.
our second pregnancy was  normal but we lost the baby due to incompetent cervix. i hate my luck.  i can be reached privately at jaded_me0223***@****, if anyone ever wants to chat.

[AngelPsMom]

I just found out today that me and my husband have the autoressive gene for Meckle Gruber Syndrome. That is how we lost our angel, we found out that she would not make it at 20wks, we lost her at 23wks. It has been the hardest thing in mylife to deal with. Its been 7wks since we lost her. I am trying to be optomistic about my odds. 1 in 4, because when we went to the doctor today I thought we were going to be told that we can't have children. So yeah I was happy with a 1 in 4 chance. I have hope and faith in God that I will have a happy healthy baby.

So if anyone wants to be optomistic with me please share.

[jadedme]

for those who interrupted their much loved pregnancies due to a lethal or poor prognosis for your baby, i recommend this site. it brought me much peace. http://aheartbreakingchoice.com/
if the link gets deleted then visit:
aheartbreakingchoice *******

[AngelPsMom]

The only thing I didn't like about the website aheartbreakingchoice is that on the main page you can click on hopeful for the future and there is an article that I read shortly after we lost our Angel that mad me so mad that I wanted to go through the computer and slap this women. And I will tell you why, she said that she terminated a baby for med reasons, then got pregnant again and was having a healthy baby this time, well come to find out the child has autism and she said that if she would have known that she would have terminated the baby, but she loves her son. I could just have died. But this site I am sure has many other positive things but its hard to get over that fact, because like I said I had just lost my Angel when I read it.

[jc810]

My husband and I just found out yesterday that our son we lost on April 19, 2005 had MKS. At the time was misdiagnosed. We then has a baby April 06, and March 07, and are due again with another healthy baby in Feb 09. If I had known about the syndrome and the 25% chance I would have not tried again but.....I didn't know for a reason. My heart breaks for everyone who had to go thru this and who now have to make the decision to have more or not. I carried my son 36weeks. He had all symptoms I'v read about. It was the most horrible, devastating thing I ever went thru.

[AngelPsMom]

Well this is still good news for us willing to play the odds. It gives me hope, I have only just lost my Angel 2months ago but we are going to try again, I don't only want have one child, and have that child be in heaven, I want to be the mom I have dreamed about being.


Angel Peanuts Mom

[AngelPsMom]

This question to all of you that have lost and kept trying. What do you tell yourself? Any advice? and what if you have had mult losses with MKS??

[AngelPsMom]

Wanted to share this, got it from a friend

Dear Mom and Dad,

I wish that I could have said "good bye".  It sometimes seems unfair that I was never able to say "hello".

I'm OK now; everything is better.  I miss you and always will, but I believe we will be together again, in time for all time.  Right now, though, that seems likely an eternity.  In time it will be for an eternity.

Please, remember me, use my name, tell my family and your friends about me.  Never forget me or pretend I didn't exist.  

Thanks for all you done for me.  Mom, thanks for putting up with all of the changes in your body;  thanks for everything you shared with me.  Thanks for talking to me;  I know your hopes and dreams for me.  Thanks for the songs you sang, and for those gentle pats you gave me while I was floating inside you.  You may not realize it, but the rhythmic contracting helped me rest peacefully and reassured me.  As I grew I could feel your heart beating better and better, and it gave me such a wonderful sense of comfort.

Thanks for tears you shed for me.  I know you did everything you could for me and I am fortunate to have you for my Mother.  I am sorry for the sadness and sorrow you have suffered.

Dad, thanks for being there for Mom and me, it must have been so hard for you, trying to be so strong and brave for Mom, when you were confused, upset and afraid yourself.  I will miss growing up with you, wrestling, being tossed in the air, just sitting on your lap learning how to use the TV remote control.  Please don't ever forget about me.  I will never forget about you.  

If there is something that I have learned, is that you will not find the answer to the 'why' of all of this, not now anyway.  God did not make this happen, but He will help you live, love and laugh again.  Sometimes that can seem very difficult when you hurt and want so badly answers.

I want you to live today; be happy.  Bring laughter back into the house.   Dare to dream again.  You know so much better than many that life is often so short and unpredictable.   Tomorrow is never guaranteed.

I would rather this be all a very bad nightmare, but I can't do nothing to change that now.  However, you can make something good out of my death if you use it for an opportunity to love each other a little bit more, and reach out.  There are so many hurting people out there who need a hand, or a hug or a 'hello' or just someone to listen.  Don't be afraid to admit that you may be one of them.  Be gentle with each other.

On a clear, still night, look for me out there in the peace and quiet.  Look up, not by the Big Dipper or the Milky Way, but over there in the corner of the sky.  See that small, twinkling you never noticed before?

One more thing before I go, thanks a lot for everything you did for me.  Thanks for caring and sharing.  Thanks for trying and crying.  I love you lots.  And Mom and Dad, "good bye", "good bye for just a little longer."

Love you

[jadedme]

i tried again after my first loss. i did manage to conceive a healthy baby but lost her due to an incompetent cervix.

[AngelPsMom]

How early and offen were you checked to see if the baby had MKS??

[frmusany718]

An ultrasound at 16 weeks can tell you (some times a little earlier)
if the gene has been identified, in your case you can do a CVS test before that.

[AngelPsMom]

Research study at Mayo Clinic, anyone else apart of it??? I just told my genetic counselor that we wanted in. I will keep you all posted on what I find out.

Angel Peanuts Mom

[frmusany718]

Yes I'm part of that study, unfortunately I'm not a carrier of any of the genes they identified so far. please keep us posted.

[jadedme]

i know in my case, because i need an abdominal cerclage...that they will try to determine by 14 weeks, but they will look earlier for any signs of meckel gruber starting at 10 weeks...12 weeks and then 14...

[jadedme]

oh wow, i am sorry that the website had that article. when i first discovered it with my first loss all the articles i came across dealth with lethal syndromes for the most part.
maybe you can try blogging, even if done in private. that has helped me so much.

[AngelPsMom]

Just found out that Duke University is also doing a research study. I emailed one of the genetic counselors there to find out how I can be apart of it.

I will again keep you all posted whatever I find out

Angel Peanuts Mom

[frmusany718]

There is a group about meckel gruber syndrome at
http://www.babycenter.com/

[Fairway4716]

My wife and discovered through our first pregnancy that we carried the Meckel Gruber recessive autosominal gene after our ultra-sound showed signs of this disorder in 2005. I understand what all off you who are first finding out about this are going through. It is tough. You dream of a natural order in your family life...get married...work hard...buy a house....and have some children. Finding out this sure put things out of order for me. I had a hard time with first losing our pregnancy and secondly admitting to myself that the next pregnancies could possibly fail as well with the 1/4 odds. Our next pregnancy was successful, we have a beautiful little 3 year old now. Then our third was diagnosed with this disorder and terminated in June 2008. That was still painful, but easier knowing what the syndrome was all about....we avoided all the genetic testing on the second diagnosis which reduced our efforts. We mustered up some strength this past few months and decided to get pregnant again (which, luckily we never seem to have a problem with). We are around 7 weeks and waiting for that 14 week ultrasound. Waiting is tough once you realize the odds and the time it takes to get a proper screen. I keep telling myself that the odds for are really quite good. I am not a betting man, but if you gave me those odds when betting on a sporting event I would bet my money on winning. I think for all of those who have had two diagnosis in a row you must be pretty discouraged. I encourage you all to take care of yourselves in your time of grief. Have some down time, enjoy your partner, engage in your supports (community/friends), seek counselling to identify your emotions, and most of all enjoy the present.

[dakota1235]

I am just hoping to find some resources for someone I know. They have a daughter who was recently diagnosed with meckel gruber syndrome. Her daughter just turned a year old. I have been reading and have not found much info about children surviving this disease, but I am hoping that someone can direct me somewhere. I know there are other children out there that have lived with this disease.

Thanks in advance.

[frmusany718]

You should tell your friend that the doctor misdiagnosed her daughter , do some research on the net and ask any doctor and you will find that this disease is 100% fatal within hours of birth.
Maybe she was diagnosed with meckel's diverticulitis that's something else.

[dakota1235]

I am pretty sure it's not a misdiagnosis. It isn't 100% fatal there is some resreach online that talks about children who live........including this excerpt from the internet journal of anesthesiology   "Meckle-Gruber Syndrome [MKS] is a rare autosomal recessive disorder with an estimated incidence range of 1: 9000 1 to 1:135, 0002. It is associated with occipital encephalocele, hypoplastic kidneys, polydactyly, cleft lip or palate, mandibular micrognathism, anatomical abnormality of the larynx and the tongue, and several other associated malformations including cardiac defects 3 . These patients usually die shortly after birth; those who survive have less severe deformities 4 ."  This is the link if anyone wants to read it....  http://www.ispub.com/journal/the_internet_journal_of_anesthesiology/volume_18_number_2/article/anesthetic_management_of_a_patient_with_meckle_gruber_syndrome_with_complex_cardiac_anomalies_for_non_cardiac_surgery.html

[emyderon]

I have just had to make the painful decision to terminate my pregnancy for a second time due to the Meckel Gruber syndrome. My husband and I discovered we had this gene with my first pregnancy at 20 weeks and knowing the disease is 100% lethal decided to terminate the pregnancy. We had hope (and still do) but my second pregnancy ended the same way...only this time at 13 weeks. :( It's really not easy to cope with and understand why this could happen to all of us, but I'm glad to have this network to communicate with. We are waiting the recommended 3 months and then will be trying again....I strongly believe it is just a matter of time for all of us! Good luck to all and don't give up!

[Tinkerita]

Hi
At 20 weeks of gestation we got recaled for our ultrasound because they had seen problems with our child. When we got there they discovered that he had possibly Meckel-Gruber syndrome. We were devastated as they said he would probably die in utero and if he did get to term he would die shortly after. They suggested abortion. We decided to keep our child and give him the chance to die on his own. They did all kind of genetic research and it all lead to the same conclusion that he would die soon. The pregnancy went well despite all that and at 37 weeks I gave birth to a breached child that we named Jacob. He lived for 16 minutes, the best minutes of our lives. He had all the symptoms of a Meckel-Gruber child but in our eyes he was the most beautiful baby ever. We do not regret our decision to let him live.

[MommaBrownX5]

We just lost our daughter Laylah to Meckel Gruber, September 22nd 2008 at 22wks gestation. We were told by our doctors "Don't worry, it won't happen again." We are now pregnant again, 12wks, and I am terrified that our family will have to go through this again. Laylah was our 3rd child, and so far, the only child affected. We are now learning that we have a 25% chance of this pregnancy ending the same way, how could we not have known? We see our Maternal Fetal Specialist in a week and I'm not sure where to start with the questions. I am so completely terrified, I know I won't make it through another stillbirth.  Anyone with any information or questions I should be asking would be greatly appreciated.

[faithnhuntersmom]

we had a healthy son in 02' and we got pregnant again in 04' and found out in wk 3 it was not a "normal" pregnancy...at 26 wks we induced labor so that our Peyton could not pass inside me and I could be harmed.  He lived for 2 minutes in December 2004. We decided to take a risk and try one more time 3 years later and we did get our Faith in God restored when we were blessed with our daughter in 08'.  She did have a kidney issue, a sign of meckyl-gruber and had to have it removed, but she did survive and is currently a healthy 2 year old.  We took the risk that our 1 in 4 was our first son, but we had to try and we are so glad we took the risk because she brings so much to our lives. And everyday she reminds me of Peyton because of him, that is how we named her, Faith in god that we could have another healthy child.

[NHMomma1980]

Hi Everyone,
My little baby girl was just delivered at 18 weeks due to a severe encephalocele and missing parts of her brain.  They told me that I was putting myself at risk of uterine rupture and even death if we carried the pregnancy any further.  They suspect Meckel Gruber but don't know yet.  Initially there doesn't appear to be any kidney malformations and their wasn't any extra fingers or toes.  Does anyone know if these things are "necessities" for diagnosis?  How long does diagnosis take? We are painfully awaiting the results of the testing and just want to know why our baby girl did not make it.

[sandyi473]

Hi so sorry to read your news. My husband and I have had 5 children 2 of whom had MGS. We were advised by our consultant that MGS babies present in many different ways and therefore a postmortum is the only sure way of getting a proper diagnosis. Both our girls who died looked very similar but did not both have extra digits on hands and feet one had on hands only and the other on hands and feet. Both looked pear shaped in the body and had a slight opening in the skull where some brain matter was able to come out. If I can be of any help please do not hesitate to contact me today is the 17th anniversary of our first baby's birth and death.

[mksmom66]

My husband and I are evidently carriers of MKS.  We are currently carrying our first baby who was diagnosed through US at 14 weeks.  We are part of a study through the Mayo Clinic which will hopefully be able to tell us exactly what genes we gave her to cause this condition.  I am hoping the results of the test will prevent her from having to be tested after her death.

[floridasoldier]

My husband and I are carriers. We delivered a perfect son in 1979. But on Christmas Day in 1981 with no warning we delivered our 2nd son with MGS, He had a large encephalocele, polysistic kedneys, cleft palate, blind, no extra toes and fingers, normal sex, his ears were low and his eyes were close together. But he was a fighter, he lived for 2 years and 18 days. He took his bottle for 1 year and then just stopped. I had to tube feed him the rest of his life. He was my soldier. 10 years later I had a beautiful healthy girl, with no MGS. There is always hope. My daughter has had a son with no MGS and my son has had a daughter with no MGS.

[LCsmom8790]

Wow, so much has changed since we had our first MGS pregnancy in 1984. No internet, no information (besides what the perinatologist was able to find in a nedical journal) but more importantly, no support system such as what is now available. In the '80s, ultrasounds were not routine so when our obstetrician said he recommended an optional ultrasound at 26 weeks "just to make sure everything was normal" we were just thinking about whether the baby would be a boy or a girl. After much thought, advice and prayer, we terminated the pregnancy by delivery, just to make sure we had made the right decision (since MGS is always fatal). We miscarried again in '86, thankful in a way we didn't have to go through the horrible process of testing and delivering a MGS baby. The positive is that we have two healthy daughters, now aged 19 and 23. Knowing that they have a 50% chance of being carriers of MGS and only a 25% chance of not being a carrier, I am very thankful for a community such as this if, heaven forbid, they have to go through such a horrible experience. May God bless and comfort you all.

[angeldyer]

My husband and I are both carriers of MKS.  I delivered by c-section at 37 weeks. Garrett was born with a very large occipital encephacele.  He was born with 1 kidney, his heart was midline(as was his kidney) and he had biliary artresia.  When he was born he weighed 6lb9oz after they removed the encephlacece he weighed 4lb10oz.  The doctors remarked that it was the largest one they had ever seen.  They sent it to the Mayo Clinic for examination.  It was mostly cerebral fluid and cells.  His head was small.  
We brought Garrett home after two weeks.  He lived 10 years.  He was diagnosed at 2 with cystic fibrosis also and he developed a seizure disorder.  My husband an I have had very extensive genetic testing as did Garrett. He never got any bigger than a 2 year old..he never spoke..he couldn't walk..he was my baby for 10 years.  Garrett loved his toys sitting in my lap rocking...and music...he was a blessing.  
I know that MKS is compatible with life because Garrett lived.
Everyone is talking about 25% chance of reacurrance...it's true... first son Mason died at 3 days old...but I have a beautiful 16 year old daughter(my middle child).  I'm not having anymore children; but I worry about my daughter and what this means for her...she is a carrier of MKS and Cystic Fibrosis...

I have alot of information and would love to share.  

[angeldyer]

They are doing a MKS study at Duke...we were a part of it.  It is all annonomous.  They have your doctor draw blood from parents siblings and grandparents.  There is also a spinal exam that they do.  They are checking for a hairy patch or a dimple.  I still get quarterly newsletters...I will see if I can find it... They are very accessabe and very caring.  I have called and they will call you back.  

[angeldyer]

They are doing a MKS study at Duke...we were a part of it.  It is all annonomous.  They have your doctor draw blood from parents siblings and grandparents.  There is also a spinal exam that they do.  They are checking for a hairy patch or a dimple.  I still get quarterly newsletters...I will see if I can find it... They are very accessabe and very caring.  I have called and they will call you back.  

[Dustinandcarrie]

Okay, so.... Dustin and I got married on July 17th 2010... shortly thereafter we were soooooo happy to learn that we were expecting.. it was september 25th and I was about 8 weeks at that time... this was the 1st pregnancy for both of us. So, the 1st ultrasound went okay... a few months later... they said "It's a boy!" and the next day they called me at work and said his kidney's looked "Enlarged".... we went to a specialist an hour away and that's when we were told that he has a 95% chance of "Meckel Gruber", he has 6 fingers and toes and his kidney's took up his entire abdomen... we've pretty much been in shock since then.... our very first child, our son, is not going to survive in this life, with us. But, we have faith in God and understand that there is a path for all of us, this is a major, if not, the most important choice for us to make... it may not be the right one, but we have decided to terminate this pregnancy... our son will not survive with these kidneys.... he will most likely make it 15 minutes (not one human diagnosed with Meckel Gruber has ever survived), the kidneys are so large, there isn't room for the lungs to grow, it just isn't possible... there is no medication or miracle that can fix this. We have a 25% of this happening again and well, we just might take that chance one day. I have tried to be brave and read the stories from others like us, and it has made me stronger and more hopeful. I really love going on Facebook and I was hoping to find a support group on there, I didn't, so I made one.... please join, thanks!

http://www.facebook.com/home.php?sk=group_120017861401125

[meckeldaddy]

My son has Meckel Gruber and is 4 and a half years of age.  He's doing OK.

[streetbobmom]

My son is 24 and has Meckel Gruber, stay positive.

[streetbobmom]

My son is 24 and has Meckel Gruber, stay positive.

[frmusany718]

I reiterate again, any doctor will tell you that meckel gruber syndrome is 100% fatal, there is just no way the baby can live outside of the mother. So anybody writing that they have living child with this .either they dont know what meckel gruber syndrome is or they are anti abortion activists trying to spread false hope.

[superaunt]

its true streetbobmom is my sister and i am not anti abortion there is a small group of kids that do live, my prayers go with  you and i understand if you dont go threw with the pregnancy but just stay strong.

[tmaria1758]

At 20 weeks, my son was diagnosed with Meckel Gruber.  We have decided to carry to term.  For these parents who say their children have lived for years with MKS, I'm curious what type of treatment your child had after birth?  All of the research and all of the doctors we have met with have told us that it is 100% fatal, and that our little boy will live only a few minutes, hours, or days.  According to the doctors, there is no study of a child living past 18 months.  So, if it is true that your children have MKS and are still living, why aren't there studies written about them?  I feel like maybe you are giving us parents with MKS children false hope, or that something is wrong with us because your children have lived while ours are dying.  

[A_G_K]

My brother was diagnosed with this syndrome and I'm trying to learn more about it many years after his death at age 11. Thank you all for these posts

[frmusany718]

its false hope and lies. speak to any doctor and he'll tell you it's 100% fatal.