re: Genetic Disorders. [Support Thread.] [GDS]

Quoting Bec&Nate:“ Man sounds like me have you ever had her tested for Celiac”

Is that a symptom?? Are there other symptoms?? At first they thought it was due to her umbilical hernia, but it has almost gone and she is still going through it...

Her doctor is a quack i think... how do i go about getting her tested for it? Can i request it or do i need to have a doctor suspect it first??

Quoting WiFeY- MoMMy- PReGGo:“ Is that a symptom?? Are there other symptoms?? At first they thought it was due to her umbilical hernia, ... [snip!] ... quack i think... how do i go about getting her tested for it? Can i request it or do i need to have a doctor suspect it first??”

Time for a different doctor.

I have to take my little Mouse 3 hours away to her doctors.

Quoting WiFeY- MoMMy- PReGGo:“ Is that a symptom?? Are there other symptoms?? At first they thought it was due to her umbilical hernia, ... [snip!] ... quack i think... how do i go about getting her tested for it? Can i request it or do i need to have a doctor suspect it first??”

I have bad Diareah *sp* my anel hole has prem damnage bc of the acid talk toyour doc about it i had to go to a differnt doc bc the one that i went to was a DICK HEAD and do repeat a DICK Head

but here are some symptoms

What are the symptoms? How long have they been present? How often do they occur?

• Abdominal cramping/bloating

• Feet (Reduced fat padding)

• Abdominal distention

• Flatus (Passing gas)

• Acidosis

• Gluten ataxia

• Appetite (Increased to the point of craving)

• Mouth sores or cracks in the corners

• Back pain (Such as a result of collapsed lumbar vertebrae)

• Muscle cramping (Especially in the hands and legs)

• Constipation

• Night blindness

• Decreased ability to clot blood

• Skin (Very dry)

• Dehydration

• Stools (Loose? Hard? Small? Large? Foul smelling? Floating? Clay, Light tan or Gray-colored? Highly rancid? Frothy?)

• Diarrhea (See Stools below)

• Tongue (Smooth or geographic - looks like different continents)

• Edema

• Tooth enamel defects

• Electrolyte depletion

• Weakness

• Energy loss

• Weight loss

• Fatigue

Quoting Bec&Nate:“ I have bad Diareah *sp* my anel hole has prem damnage bc of the acid talk toyour doc about it i had ... [snip!] ... continents) Edema Tooth enamel defects Electrolyte depletion Weakness Energy loss Weight loss Fatigue ”

The only ones she has are the increased appetite [[right now she is sneaking into the poptarts even though she had three earlier and she is always sneaking into the fridge...]], constantly thirsty [[im always wondering if she is dehydrated]] and the diarrhea...

if it is celiac how do you treat it? diet or meds?

Quoting WiFeY- MoMMy- PReGGo:“ The only ones she has are the increased appetite [[right now she is sneaking into the poptarts even ... [snip!] ... thirsty [[im always wondering if she is dehydrated]] and the diarrhea... if it is celiac how do you treat it? diet or meds?”

just diet you cant have gluten google it it will give you tons more info I dont eat wheat rye barly or oats

Before i was prego i drank atlease 160oz of water a day now that i am prego it goes ver 230oz a day

Quoting Bec&Nate:“ just diet you cant have gluten google it it will give you tons more info I dont eat wheat rye barly ... [snip!] ... wheat rye barly or oats Before i was prego i drank atlease 160oz of water a day now that i am prego it goes ver 230oz a day”

o wow... she has a lot of that in her diet right now... like i said she just had poptarts for breakfast... if it is celiac then ive been making it worse...

Quoting WiFeY- MoMMy- PReGGo:“ o wow... she has a lot of that in her diet right now... like i said she just had poptarts for breakfast... if it is celiac then ive been making it worse...”

i made it worse for 18 years so maybe if u start cutting her back on stuff and talk to your doc about it

Quoting Alyessa:“ Where about in Kentucky are you? Also, McKusick-Kaufman Syndrome. My little one, had a mass that they ... [snip!] ... out, and two surgeries later she is doing fine. They are going to start he reconstructive surgery when she is 6 months old.”

I live right outside of Bowling Green, you? Will your daughter ever be able to concieve?

Quoting ..andrea..:“ I live right outside of Bowling Green, you? Will your daughter ever be able to concieve?”

You're probably just a few hours away from me! We live right outside of Evansville!

Yes, they said that after she has her reconstructive surgery, she will be able to have a normal life, but when she is ready to have sex she has to have creams for the scarring.

I do not know if she will want to have kids though, you know? For just incase she doesn't want to have them come out affected.

But that is up to her. =)

My son has Cystic Fibrosis. Both his father and I carry the gene apparently, and it causes extra mucus buildup in the lungs, digestive system and, in boys, seminal tubes. Basically the mucus makes it easier for bacteria to grow so he'll get sick a lot. If he gets too sick however, it could travel into his lungs and cause his death. He will also be sterile, as 99% of males with CF are. Hopefully we will continue to have it semi-easy...only one 10 day hospital stay so far!

Quoting Tait's Mommy:“ My son has Cystic Fibrosis. Both his father and I carry the gene apparently, and it causes extra mucus ... [snip!] ... sterile, as 99% of males with CF are. Hopefully we will continue to have it semi-easy...only one 10 day hospital stay so far!”

After having my daughter and not knowing that I carried the MKKS gene, I learned I am too the carrier of the cystic fibrosis gene.

I also have two twin cousins who are around 30 now that have CF.

Quoting --Aly--:“ After having my daughter and not knowing that I carried the MKKS gene, I learned I am too the carrier of the cystic fibrosis gene. I also have two twin cousins who are around 30 now that have CF.”

The doctors dont help at all either...they're like "the average lifespan of someone with CF is like 40 years" and im thinking...well I'll only be 60 then, and 40 years with him wont be long enough.

ETA: We'll probably have to do IVF with the next baby, since there is a 25% chance with every pregnancy that they'll have it. So if we do IVF they might be able to take out the gene in one of us, so we wont have to put another baby through this

Quoting Tait's Mommy:“ The doctors dont help at all either...they're like "the average lifespan of someone with CF is like ... [snip!] ... have it. So if we do IVF they might be able to take out the gene in one of us, so we wont have to put another baby through this”

One of them died about 5 years ago.

We're not having any more because there is a 50% chance it will effect another baby.

Are they not doing anything to less his suffering? If he is having any.

We've spent a month and a half in hospitals and intensive care. We stayed at The Ronald McDonald house.

Quoting --Aly--:“ One of them died about 5 years ago. We're not having any more because there is a 50% chance it will ... [snip!] ... If he is having any. We've spent a month and a half in hospitals and intensive care. We stayed at The Ronald McDonald house.”

He's not suffering at all. He is a perfectly happy and usually healthy baby. In fact, I wouldnt have known he had it if it werent for his newborn screening. He shows NO symptoms at all. When we stayed at the hospital last month they had those gren pull out chairs in there. Then when Kyle came we had to get a cot so he could sleep there too. Uncomfortable to say the least.

And I just dont think about how short his life will be, just trying to make the most of what time he has with us

Quoting --Aly--:“ One of them died about 5 years ago. We're not having any more because there is a 50% chance it will ... [snip!] ... If he is having any. We've spent a month and a half in hospitals and intensive care. We stayed at The Ronald McDonald house.”

Im late to the party, but can I ask what kind of reconstructive surgery your daughter has to have. My son has a cleft, will need a few surgeries after birth and specialized care. I know how you feel about being resentful towards some unfit mothers w/ beautiful kids. Im nervous about his surgeries but I know it will be for the best.