Genetic Disorders. [Support Thread.] [GDS]

The Above Picture was made by BG member Brooke.


If you ever see someone with the tag [GDS] in their user name it stands for Genetic Disorder Strong. We wear it around so other mothers know we're out there, and we're right here if they ever need to talk to someone about having a Genetic Disorder or their child having a Genetic Disorder.

Any words on here that are highlighted or underlined means you can click on them for more information.

**PLEASE NOTE BEFORE POSTING IN THIS THREAD!!**

If you plan on posting in here, please plan on coming back. We want to keep in touch with you, and believe it or not I get many Private messages asking where certain members are if they have not posted in awhile. So please plan on keeping in contact with us!

If you do not think your child's disorder or your own is worth posting in here you're wrong. It is your child, NOTHING IS INSIGNIFICANT! We want you to join, you deserve the support! Please feel free to post! Join us!

This thread was made for support for mothers with Genetic Disorders that are expecting, or Mother's with children who have Genetic Disorders. We vent, chat, and talk about Mundane things like what is for dinner. We're here to support each other, and we welcome any new mothers!

Below are the Mother's we have within the thread now;

Down Syndrome Mothers;

Sam, who's son has DS.
Ashley, who's son has DS.
Jess, who's son has DS.
Amanda, who's daughter has DS.
Lindsay, who's son has DS.
Andrea, who's son has DS.

Cystic Fibrosis Mothers;

Tawny, who's son has CF.
Lisa, who's son has CF.
Sara, who's daughter has CF.


Syndactyly, Brachydactyly, and Polydactyly;

Brooke, who's son has Syndactyly.
Tiffany, who's son has Syndactyly .
Amanda, who's son has polydactyly and schizencephaly.


Other Genetic Disorder Mothers;

Jenell, who's daughter has Turner Syndrome.
Sara, who's daughter has VUR Reflux.
Jelena, who's son had cardiac surgery at 11 days old.
Desiree, who's daughter has Galactosemia.
Lindsy, who's son has yet to get the proper diagnosis, yet might be given the diagnosis cerebral palsy.
Aly, who's daughter has McKusick Kaufman Syndrome.
Chasity, who's son has Autism, daughter has Chronic Asthma + Type 1 Diabetes, and who's other son has suffered from Seizures.
Bridget, who's daughter has Alpha-1 Antitrypsin Deficiency.
Jenna, who suffers from Neurofibromatosis.

Please feel free to join, we welcome you!



Above image made by BG member Bridget!

Quoting Bec&Nate:“ well i have celaic and i found out today that my baby has the *cushman family 6th finger* other then that we are healthy”

what does that mean??

Quoting Bec&Nate:“ well i have celaic and i found out today that my baby has the *cushman family 6th finger* other then that we are healthy”

So your baby is going to be giving high sixes until that finger is gone?

I always tell that to my daughter, when I am pulling her hand through a sleeve, I say; "Op! There's five, now where's that cute little number 6!?" And she thinks its funny.

Or I tell her to give me a high six, instead of a high five. =P

I'm glad for health! Good for you guys!

Quoting Little☆Angel:“ what does that mean??”

He has an extra finger!

My son is a carrier of a genetic disorder called MCAD meaning he only has one mutated gene passed from either my hubby or me. This disorder causes affected persons (those with 2 mutated genes-one from each parent) to forever be on a low fat diet because their body doesn't have the ability to break down medium-length chain fats. They also have to eat every so often, because like diabetes, if you have this and you don't eat, you can get very sick, but it is much worse than diabetes...your child can even die from this. We learned that Gavin was a carrier when his newborn screen test came back positive for the disease. Luckily after further evaluation and testing, we found out he is only a carrier. On Tuesday, my hubby and I went back to get each of us tested for the to ensure that we aren't both carriers and make sure that our future children aren't at risk of being born with MCAD. If it turns out that we both have one mutated gene and in fact both are carriers...we will have a tough decision to make regarding whether or not we will have any more children.

My son was born with Bilateral Club Feet.. After many casting's he is now in braces and on his way to regular looking feet!!!!!!

Quoting Alyessa:“ All right Momma's. There is no forum I found for support for people with babies, and or kids with genetic ... [snip!] ... A Syndrome that only effects 1 - 3 % of births. She's going to need a lot of surgeries to fix this problem. Now you guys go!”

Can you breifly explain what that is? I am too lazy to google...lol. Plus you know first hand!

Im in the middle of having a lot of tests run on my daughter because ive suspected she has some kind of disorder for well over a year now, but i dont know if its spontaneous or genetic...

Quoting ..andrea..:“ My son is a carrier of a genetic disorder called MCAD meaning he only has one mutated gene passed from ... [snip!] ... and in fact both are carriers...we will have a tough decision to make regarding whether or not we will have any more children.”

We are both absolute carriers of this gene, if we ever wanted to have another baby, we would have to go to genetic cousiling, and what not.

But, we do not want another one, no more chances, we lost one, and this one has medical issues, you know?

So I completely understand how you feel on the; "If, maybe baby." Thing, its a hard choice.

I am so glad he is just a carrier, and now that you know, he will know, so that when he is ready for kids, he can get his partner tested for the gene.
I wish that someone would of told me, ANYTHING, because my daughter wasn't the only one born in the family with the symptoms, but no one said a single thing.

There is a 50% chance that it has effected my oldest daughters reproductive system, but we won't know until she gets her period.

And, I always wondered why mine were so off, if only someone in my family would of said anything. Jeeze.

Quoting WiFeY- MoMMy- PReGGo:“ Im in the middle of having a lot of tests run on my daughter because ive suspected she has some kind of disorder for well over a year now, but i dont know if its spontaneous or genetic...”

What kind of disorder?

Quoting Alyessa:“ What kind of disorder?”

I wish i knew, but starting about a year ago, she would get really bad diarrhea. IT was like water everytime, and it would leak no matter what diaper we used... it was usually in her sleep, and it would get in her hair, clothing, and i just hated it cause i knew that wasnt healthy. Ive had her tested over and over... she still is like that... they said she has low Alkaline Phosphates, but her other tests have come back normal. Ive googled it a million times and its a sign of immature or inadequate liver function... but they wont run more tests because her other tests come back fine...

she has scars because there is so much acid in her stools that she breaks out no matter how fast i try to get her changed [[which is hard when it usually happens the worst at night]]... its a big mess and a major source of stress...

Quoting Alyessa:“ We are both absolute carriers of this gene, if we ever wanted to have another baby, we would have to ... [snip!] ... she gets her period. And, I always wondered why mine were so off, if only someone in my family would of said anything. Jeeze.”

Yeah, we were really lucky! I feel for you so much! I can remember going through all of the testing (at first they thought it was something else much worse) so for the first 2.5 months of his life all I could think about was that there could be something wrong with my perfect baby boy...it was horrible, I couldn't look at him without crying. Tons of my friends have children and have had no problems, so I never thought about somethinglike this occuring. Now that I have been through it, I try to pass my experience along to others that are expecting just so they are aware that these types of things do exsist. Props to you for doing the same!

I am so sorry...I wish there was something someone could do.

Quoting ..andrea..:“ Can you breifly explain what that is? I am too lazy to google...lol. Plus you know first hand!”

Where about in Kentucky are you?

Also, McKusick-Kaufman Syndrome.

My little one, had a mass that they found on the ultra sound. At first it was teeny tiny, they assumed that it was a cyst on her overies, and would go away before birth.
They said cysts are common in little girls, because they have to deal with their own hormones as well as mommies hormones.

Well, the ultra sound tech is obsessive about things she finds on ultra sounds, so she brought us in every week and a half to look at baby and the mass. The mass kept growing. I was 37 weeks and 4/7 days, and she measured the mass, in shock that it had gotten so big, it was as big as a baseball.

I Went to the hospital to get an amnio test done to see if her lungs were ready, if so they were going to deliver her the next morning, right?
They didn't want me to go into labor by myself since I had a previous c-section. Welllllll. My doctor was supposed to be there at 2, to take the amnio test.

At 3:30, I went into labor! [He didnt get there until 4PM]

With the amnio, that he did any way the fluid was green meaning she had used the bathroom already, so at 6:53pm she was here!

So, its a syndrome that effects things like, sight, heart, growth, and reproductive systems.

So she can see, she is growing great, and her heart is fine.

She has two extra fingers, and her second and third toes are webbed, her cervix instead of finishing, it closed up and didnt connect itself to the rest of her, so the mass they found on the ultra sound was her uterus filled up with fluid.
12ounces worth.
They drained her out, and two surgeries later she is doing fine.

They are going to start he reconstructive surgery when she is 6 months old.

Quoting WiFeY- MoMMy- PReGGo:“ I wish i knew, but starting about a year ago, she would get really bad diarrhea. IT was like water ... [snip!] ... get her changed [[which is hard when it usually happens the worst at night]]... its a big mess and a major source of stress...”

Man sounds like me have you ever had her tested for Celiac

Quoting ..andrea..:“ Yeah, we were really lucky! I feel for you so much! I can remember going through all of the testing ... [snip!] ... types of things do exsist. Props to you for doing the same! I am so sorry...I wish there was something someone could do.”

At the end of my pregnancy, I refused anymore ultrasounds, or specialist.
I didnt want to spend the last weeks knowing that my baby might not make it, I wanted to spend them happy that she was here still, and to pretend she was a perfectly healthy little angel.

I am so jealous of parents with babies that are fine.
I get so furious at moms who yell at their kids in public, or when I hear stories of people killing kids.

Or of people aborting them just because they weren't ready.