Aa
hi all, just an introduction!
Hi! plenty of you know me from Pregnancy 21-34 board, and one of the ppl at medhelp sent me this link!
My name is Cindie, and I'm currently 34w4d pregnant with my first baby a son. DH and I are 21 yrs old, and have been married almost 3 yrs. (6 days after TJ is born will be our anniversary) I'm having a scheduled Csection September 3 and my due date is Sep 13.
We've been together almost 6 years tho and will be 22 in November.
This pregnancy has been a hard and worrysome one. Why? Well at 16w I had an amnio to find out if the baby has my rare skin problem called EHK (epidermolytic Hyperkeratosis) which causes my body to make skin cells 300X faster than normal due to a missing gene and K10 mutation.
My mom and grandma have it and I have a %50 chance of passing it on with each child I have. Well the result of the amnio was: YES our son does have EHK, but he also has Down Syndome.
SO if any of you have any questions on it feel free to ask... I just had my baby shower last saturday which turned out to be ALOT of fun. it was at a pizza place.
And recently we agreed with my mom to move into a bigger house all together so that things would be easier bill wise as well as when it comes to TJ's OT (occupational therapy)
We found a beautiful 5bed 2 1/2 bath house with 3100sq. ft and a HUGE backyard with stamped concrete as well as fruit trees and grass. This house has 2 small bonus rooms which don't count as bedrooms since there is no closet.
Rent is 1700mo. which we currently pay 780mo in our 1 bed 1 bath apartment.
SO 1/2 is only 850. which we CAN afford. We didnt' think we'd get the house cause we couldn't come up with the 2200 combined house and pet deposits, but luckily and thankfully I spoke to my grandfather (my moms dad) and he decided to help us out and pay the entire deposit to get us into the house. which is AWESOME! we are really excited and will be moving hopefully as of Aug 22.
We're very happy because we are going to have a nursery for the baby!
My name is Cindie, and I'm currently 34w4d pregnant with my first baby a son. DH and I are 21 yrs old, and have been married almost 3 yrs. (6 days after TJ is born will be our anniversary) I'm having a scheduled Csection September 3 and my due date is Sep 13.
We've been together almost 6 years tho and will be 22 in November.
This pregnancy has been a hard and worrysome one. Why? Well at 16w I had an amnio to find out if the baby has my rare skin problem called EHK (epidermolytic Hyperkeratosis) which causes my body to make skin cells 300X faster than normal due to a missing gene and K10 mutation.
My mom and grandma have it and I have a %50 chance of passing it on with each child I have. Well the result of the amnio was: YES our son does have EHK, but he also has Down Syndome.
SO if any of you have any questions on it feel free to ask... I just had my baby shower last saturday which turned out to be ALOT of fun. it was at a pizza place.
And recently we agreed with my mom to move into a bigger house all together so that things would be easier bill wise as well as when it comes to TJ's OT (occupational therapy)
We found a beautiful 5bed 2 1/2 bath house with 3100sq. ft and a HUGE backyard with stamped concrete as well as fruit trees and grass. This house has 2 small bonus rooms which don't count as bedrooms since there is no closet.
Rent is 1700mo. which we currently pay 780mo in our 1 bed 1 bath apartment.
SO 1/2 is only 850. which we CAN afford. We didnt' think we'd get the house cause we couldn't come up with the 2200 combined house and pet deposits, but luckily and thankfully I spoke to my grandfather (my moms dad) and he decided to help us out and pay the entire deposit to get us into the house. which is AWESOME! we are really excited and will be moving hopefully as of Aug 22.
We're very happy because we are going to have a nursery for the baby!
I guess I have gone thru alot. :) and today is one of those days i just don't feel all that positive... :( I just found out today that I've got more to go thru because at my appointment, the doctor measured me and found that even tho I'll be 35w tomorrow, I'm only measuring at 31, so he diagnosed me with IUGR or Intrauterine Growth Retardation where the baby doesn't grow as he should, it can lead to death if not monitored closely.. So next week I have a U/S and if things are the same then it looks like he may be born here in August rather than September.
Down syndrome is what's known as Trisome 21 or 3 copies of the #21 chromosome. It leads to particular facial charactaristics and shortened fingers along with some physical and mental delays. Children born with this have a VERY high chance of heart defects, it's either %40-60. So far they haven't found any in TJ.
They also have alot of eye and ear problems, like needing tubes in the ears. there are other issues that can go along with it besides that.
There are really only 3 types of down syndrome and 2 ways to get it. first type and way is called a translocation. which means there is an extra part of #21 chromosome attached to another chromosome. it's a recessive thing the mom or dad carry even if they don't HAVE down syndrome. That leads to about a %15-25 chance of a baby with it.
The second type is just trisome. Where somewhere along conception a 3rd copy gets made. Sometimes only some of the cells in the body will show this 3rd copy, it's known as Mosaic down Syndrome and the symptoms aren't as severe. The other kind is just plain ol normal D/S. And if it's not the translocation type, then most women have different risk percentages depending on they're age group. I had a 1/1000 risk. After TJ is born I'll have a 1/100 risk due to having a child with it.
Down syndrome is what's known as Trisome 21 or 3 copies of the #21 chromosome. It leads to particular facial charactaristics and shortened fingers along with some physical and mental delays. Children born with this have a VERY high chance of heart defects, it's either %40-60. So far they haven't found any in TJ.
They also have alot of eye and ear problems, like needing tubes in the ears. there are other issues that can go along with it besides that.
There are really only 3 types of down syndrome and 2 ways to get it. first type and way is called a translocation. which means there is an extra part of #21 chromosome attached to another chromosome. it's a recessive thing the mom or dad carry even if they don't HAVE down syndrome. That leads to about a %15-25 chance of a baby with it.
The second type is just trisome. Where somewhere along conception a 3rd copy gets made. Sometimes only some of the cells in the body will show this 3rd copy, it's known as Mosaic down Syndrome and the symptoms aren't as severe. The other kind is just plain ol normal D/S. And if it's not the translocation type, then most women have different risk percentages depending on they're age group. I had a 1/1000 risk. After TJ is born I'll have a 1/100 risk due to having a child with it.
i find your story so intriguing. i am so interested. normally i wouldnt want to hear about things like this because it scares me, but i think that your positive perspective on this has changed my way of thinking. i could never imagine having to go through all that pain everyday, i am such a wuss. it sounds like youve been through so much for someone as young as you are.
i dont know much about down syndrome either...maybe you could fill me in a little about it.
i dont know much about down syndrome either...maybe you could fill me in a little about it.
Browneyedmama~ Yea it can be horrible but I've seen some diseases and disorders much worse. You ever watch Discovery Health- Girl with the Butterfly Skin?
I know her, she lives in my town and we met a few years ago. She has a disorder I believe called EB. anytime she is touched even lightly she can get blistering and severe pain. Most EB patients don't live past they're teens or early twenties but last I heard she was like 24...
TJ will need to wear diapers for sensative skin, and all cotton clothing is best, however I believe we can wear anytype of clothing. I know I have growing up.
Every person is different when it comes to shampoos and soaps. Of course as he's a baby I'll use Johnsons No Tears Shampoo and gentle soaps on him. Honestly, the major problems I've seen with this skin disorder come in early childhood. I remember several occasions when I was a young girl maybe 6-7yrs old if even that where my legs would be all blistered and torn up, and I'd have socks on and have to cover the sock w/vaseline to loosen it and then sit in a warm bath til I could pull it off.. I still screamed from the pain.
So yes, it's bad. Especially in younger years when skin is more fragile anywayse, but there are things done to help with the complications. Antibiotics are given for skin infections, which are watched closely to make sure they don't become Staph infections. And IBuprofen is administered for the swelling and inflammation that comes with infections. We also use no-stick dressings and things like that for raw areas. In the summer when we can't handle the heat (we don't sweat normally due to the skin production) we keep hydrated and use ice packs, handheld fans, and general know how to recognise the signs of heat stroke and things like that.
I am fully prepared to care for him regarding the skin condition because I grew up with it and know what treatments worked on me. HOWEVER.. the scary part for me comes with the Down Syndrome because i don't know exactly what to expect, if he'll be able to understand how to care for his skin.. things like that. But I'm sure things will work out.
I'm sorry if this was a little TMI, I rarely go into so much detail, but I find it helps people be able to understand things about me better. (like my love of anything medical related!)
I know her, she lives in my town and we met a few years ago. She has a disorder I believe called EB. anytime she is touched even lightly she can get blistering and severe pain. Most EB patients don't live past they're teens or early twenties but last I heard she was like 24...
TJ will need to wear diapers for sensative skin, and all cotton clothing is best, however I believe we can wear anytype of clothing. I know I have growing up.
Every person is different when it comes to shampoos and soaps. Of course as he's a baby I'll use Johnsons No Tears Shampoo and gentle soaps on him. Honestly, the major problems I've seen with this skin disorder come in early childhood. I remember several occasions when I was a young girl maybe 6-7yrs old if even that where my legs would be all blistered and torn up, and I'd have socks on and have to cover the sock w/vaseline to loosen it and then sit in a warm bath til I could pull it off.. I still screamed from the pain.
So yes, it's bad. Especially in younger years when skin is more fragile anywayse, but there are things done to help with the complications. Antibiotics are given for skin infections, which are watched closely to make sure they don't become Staph infections. And IBuprofen is administered for the swelling and inflammation that comes with infections. We also use no-stick dressings and things like that for raw areas. In the summer when we can't handle the heat (we don't sweat normally due to the skin production) we keep hydrated and use ice packs, handheld fans, and general know how to recognise the signs of heat stroke and things like that.
I am fully prepared to care for him regarding the skin condition because I grew up with it and know what treatments worked on me. HOWEVER.. the scary part for me comes with the Down Syndrome because i don't know exactly what to expect, if he'll be able to understand how to care for his skin.. things like that. But I'm sure things will work out.
I'm sorry if this was a little TMI, I rarely go into so much detail, but I find it helps people be able to understand things about me better. (like my love of anything medical related!)
omg!! thats horrible!! so does the baby have to wear special diapers or clothes to prevent the skin from becoming more irritated?? what about bathing the baby, do you have to use special shampoos or soaps?? and is there different stages of severity for this disease?? i couldnt imagine having to go through that!! it sounds like it would be painful!!
Wendy~ that's really funny about my csection date being your due date! and normally a house like this would run about $2100-2300 a month.. But we got REALLY lucky and the owner of the house also likes us alot.
Browneyedmama~ Thanks, and in response to your questions. EHK is what's known as a K10 mutation or a mutation on the 10th chromosome I do believe. The way it starts in a family is as a spontaneous mutation kind of like the Xmen (born w/super powers)... well, with a S.M. it just happens and the result is the skin problem. Since the skin produces 300X faster than normal it builds up into "scales".. medical terms call it Fish Skin which sounds Horrible. Our skin can't hold moisture due to the rapidity of production. and we're missing alot of the natural lipids that keep your skin so soft and stretchy.
babies born with this have a %25 mortality rate due to skin infections. When they are born naturally and squeezed in the pelvis during birth, the skin can rip off and tear easily exposing them to bacteria in the vagina leading to infections.
HOWEVER: we are having him via Csection for that exact reason, less exposure to bacteria and hopefully less skin rippage. He will go into the NICU and if there are no other problems associated w/the D/S like heart, ear, or eye problems then after his skin heals over a few days he should go home with me. The best possible thing would be for him to come home when i do.
He won't be on any special medication for the skin problem because there aren't any approved treatments for it, they're looking into gene therapy or taking the missing gene from a healthy cell in someones body, multiplying it with stem cells and injecting it into a patient w/ehk. We will use Vaseline and things like that to hold moisture in the skin after baths and for open wounds.
I was on a high risk medicine for a while when I was about 17-18yrs called Soriatane. it's similar as Accutane because it's a Vitamin A derivative. However, it has less risks with bone loss and such than accutane. The drawback is that it stays in your system for 3 years after stopping the medication and is a category X I think med. You can't get pregnant for that 3 years due to possible SEVERE birth defects. it made my skin smoother and it caused the extra layers to slough off more evenly.
But it's not approved for young babies and children. Plus, with regular scrubbing to remove the dead skin and care, his skin should be clearer than mine... It seems to get less severe in each passing generation. my skin is better than my mom's and hers is better than my grandma's was growing up.
Anymore questions? I'd be happy to answer them!
Browneyedmama~ Thanks, and in response to your questions. EHK is what's known as a K10 mutation or a mutation on the 10th chromosome I do believe. The way it starts in a family is as a spontaneous mutation kind of like the Xmen (born w/super powers)... well, with a S.M. it just happens and the result is the skin problem. Since the skin produces 300X faster than normal it builds up into "scales".. medical terms call it Fish Skin which sounds Horrible. Our skin can't hold moisture due to the rapidity of production. and we're missing alot of the natural lipids that keep your skin so soft and stretchy.
babies born with this have a %25 mortality rate due to skin infections. When they are born naturally and squeezed in the pelvis during birth, the skin can rip off and tear easily exposing them to bacteria in the vagina leading to infections.
HOWEVER: we are having him via Csection for that exact reason, less exposure to bacteria and hopefully less skin rippage. He will go into the NICU and if there are no other problems associated w/the D/S like heart, ear, or eye problems then after his skin heals over a few days he should go home with me. The best possible thing would be for him to come home when i do.
He won't be on any special medication for the skin problem because there aren't any approved treatments for it, they're looking into gene therapy or taking the missing gene from a healthy cell in someones body, multiplying it with stem cells and injecting it into a patient w/ehk. We will use Vaseline and things like that to hold moisture in the skin after baths and for open wounds.
I was on a high risk medicine for a while when I was about 17-18yrs called Soriatane. it's similar as Accutane because it's a Vitamin A derivative. However, it has less risks with bone loss and such than accutane. The drawback is that it stays in your system for 3 years after stopping the medication and is a category X I think med. You can't get pregnant for that 3 years due to possible SEVERE birth defects. it made my skin smoother and it caused the extra layers to slough off more evenly.
But it's not approved for young babies and children. Plus, with regular scrubbing to remove the dead skin and care, his skin should be clearer than mine... It seems to get less severe in each passing generation. my skin is better than my mom's and hers is better than my grandma's was growing up.
Anymore questions? I'd be happy to answer them!
hey hon!!! i must say that you sound very mature for your age...i commend you on that!! congrats on the pregnancy!! i am exactly 34 weeks today, so we are very close. my due date is september 17th.
i do have some questions about EHK... i have never even heard of it. what does it do to the skin? is there medication your son is going to have to take?
have you picked a name for your son yet??
you must be relieved that you found the perfect house. it sounds absolutely amazing!! it'll be so good for you to have your mom there to help you out when you need it. i wish you luck with everything.... the move and the baby!! take care
i do have some questions about EHK... i have never even heard of it. what does it do to the skin? is there medication your son is going to have to take?
have you picked a name for your son yet??
you must be relieved that you found the perfect house. it sounds absolutely amazing!! it'll be so good for you to have your mom there to help you out when you need it. i wish you luck with everything.... the move and the baby!! take care
Hi Cindie... I know I've read a few of your posts (talking about the concern of where you'll be staying), so that's great to hear that you were able to find such a big place (it sounds awesome)! Sounds like quite a deal too... you'd never be able to find a place that big for such a low price here in Connecticut.
So it looks like you're scheduled for your c-section smack on my due date. I might end up going a week earlier but it looks like we'll definitely be delivering our wee-ones right around the same time. Anyway... good to see you on the September board!
So it looks like you're scheduled for your c-section smack on my due date. I might end up going a week earlier but it looks like we'll definitely be delivering our wee-ones right around the same time. Anyway... good to see you on the September board!
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