PKU Carrier anyone?

Miss Jennifer · Apr 13th, 2012, 11:20 AM

Hi ladies. I just found out last night through DNA testing that I am a carrier for PKU. In order to pass it on, my husband would also have to be a carrier, and as of right now, he tested negative. However, there are 400 mutations of the gene defect and not all can be identified. This is a lifelong struggle for children born with PKU, so I a so scared. If anyone has any information or experience, I would appreciate it!

My doctor said no need to pursue CVS or Amnio, because the results wouldn't change anything. I just wish I could have peace of mind that baby is ok.

overcomer79 · Apr 13th, 2012, 11:44 AM

I'm not sure what PKU is but I have a similar situation as I have albinism.

While hubby doesn't have albinism, if he is a carrier and passes the gene, then our children will inherit it.

It didn't happen with my first son. I don't know if will happen with my duaghter or not.

I guess there isn't much you can do but be prepared.

Do you know how common it is to have PKU gene? If it is rare (like albinism is) then you're chances are that the baby wil be fine. However, do realize that this baby will be a carrier of that gene.

Miss Jennifer · Apr 13th, 2012, 13:24 PM

Praying for your daughter! Thank you for the response. 1 in 50 Caucasions are carriers - so I am very worried. We have no history, but you don't need a history to be a carrier, as you know. My fear is there is no test to completely rule out he is a carrier. Genetics is just not 100%.

overcomer79 · Apr 13th, 2012, 15:32 PM

Is this your first? I just researched PKU and I have to say I would be worried and upset.

Can they not do an amnio just to make sure?

I know that wouldn't change the decision but at least you would know one way or ther other.

I would seriously let your dr know how much this is stressing you out. Normally I am against amnios 100 percent but from what I read, it doesn't express itself until the baby is older so its not like when he/she is born, you know.

Either way I'm praying for your LO and that your OH is not a carrier. 1 in 50 sounds a bit high but if you think on it, it is only 2 percent of Caucasians.

overcomer79 · Apr 13th, 2012, 15:37 PM

I just noticed your conception attempts too. I would really think it would be rare for two people to be together that has the carrier. If you think about it, you were in the 2 percent. Your OH tested negative, good sign. Please don't stress by googling hun. It will not do LO any good and stressing won't do you any good.

I would say with your attempts, an amnio might not be a good ideal but maybe mentally prepare yourself with the possibility and educate yourself and just do the best you can with your situation.

Sproglet · Apr 15th, 2012, 01:18 AM

Don't forget- even if hubby was a carrier, the risk of the baby having PKU is only 1/4 ( so it isn't definite!) because they have to inherit both your faulty genes to get it. also the risk of LO being a carrier is 1/2.

I am sure they will test LO as soon as he/she is born so if he/she does have PKU you will find out for definite then. In the meantime I would research PKU- but don't stress about it too much. In the unlikely event that baby has PKU you will have a little bit of time to prepare yourself because it's only a concern once baby starts weaning, right?

Miss Jennifer · Apr 15th, 2012, 19:38 PM

Thank you so much for your responses. My first thought was amnio, but then when I had a second to calm down, I knew I couldn't put my baby at risk for my own well being or peace of mind. Even my doctor said we would not move forward with an amnio because it's not a disorder most people terminate for. He said it was my decision of course.

What I did find out is the test my husband had only has 43% accuracy, so it missed 57% of PKU carriers. There is a gene sequencing test done by a simple blood draw that determines with greater than 97% accuracy if a person is a carrier. I'm meeting with a genetics team and will see if this is an option.

Thank you for your care and concern - this is my first and it took ALOT to get here!!!

Babysept · Apr 19th, 2012, 12:11 PM

Hi Jennifer, I am currently 18 weeks pregnant and can tell you all you need to know about PKU as I have it so please ask anything you want. I am 29 and was diagnosed at birth and have been on the specialised low protein diet for life. I have lead a perfectly normal life

PKU although it sounds scary when you research it is not something to be worried about - even if your husband is a carrier of the gene there is still only a one in four chance that you child will have PKU- I'm the only one of 4 in my house to have PKU ! Let me know if there is any other info you need

Miss Jennifer · Apr 19th, 2012, 12:50 PM

Quote:

Originally Posted by Babysept

Hi Jennifer, I am currently 18 weeks pregnant and can tell you all you need to know about PKU as I have it so please ask anything you want. I am 29 and was diagnosed at birth and have been on the specialised low protein diet for life. I have lead a perfectly normal life

PKU although it sounds scary when you research it is not something to be worried about - even if your husband is a carrier of the gene there is still only a one in four chance that you child will have PKU- I'm the only one of 4 in my house to have PKU ! Let me know if there is any other info you need

Thank you so much for your response, I just responded you in second tri too!!! I am sooo worried. I know there are so many more serious things I could worry about, but I am just so worried about my baby having a hard life!

PKU Mumma · Jun 27th, 2012, 03:32 AM

Hi Miss Jennifer,

I too have PKU. I am 29 and am perfectly healthy! I am currently trying to get my phenylalinine levels down so I can fall pregnant. While this isn't easy and neither was having PKU in general... I have had an amazing life and I wouldn't have had some of the wonderful experiences I have if I didn't have PKU. My sister also has PKU and we are both healthy and very happy!

Whilst it must be very scary to think of what could happen especially when you research it please don't be too scared as your baby has just as much chance of being happy and healthy as any other baby as long as they stay on their diet throughout their life.

The new products that have come out over the years have made my life easier and easier as I get older!

Like the other woman with PKU said... if you have any questions or would like to chat about anything please don't hesitate to contact me!

Apr 13th, 2012, 11:20 AM	#1
Miss Jennifer Pregnant (Expecting) Active BnB Member Join Date: Jul 2010 Location: New Jersey, USA Posts: 450	PKU Carrier anyone? Hi ladies. I just found out last night through DNA testing that I am a carrier for PKU. In order to pass it on, my husband would also have to be a carrier, and as of right now, he tested negative. However, there are 400 mutations of the gene defect and not all can be identified. This is a lifelong struggle for children born with PKU, so I a so scared. If anyone has any information or experience, I would appreciate it! My doctor said no need to pursue CVS or Amnio, because the results wouldn't change anything. I just wish I could have peace of mind that baby is ok.

Status: Offline

Apr 13th, 2012, 11:44 AM	#2
overcomer79 Mum (Mom) BnB Addict Join Date: Jan 2009 Posts: 4,428	I'm not sure what PKU is but I have a similar situation as I have albinism. While hubby doesn't have albinism, if he is a carrier and passes the gene, then our children will inherit it. It didn't happen with my first son. I don't know if will happen with my duaghter or not. I guess there isn't much you can do but be prepared. Do you know how common it is to have PKU gene? If it is rare (like albinism is) then you're chances are that the baby wil be fine. However, do realize that this baby will be a carrier of that gene.

Status: Offline

Apr 13th, 2012, 13:24 PM	#3
Miss Jennifer Pregnant (Expecting) Active BnB Member Join Date: Jul 2010 Location: New Jersey, USA Posts: 450	Praying for your daughter! Thank you for the response. 1 in 50 Caucasions are carriers - so I am very worried. We have no history, but you don't need a history to be a carrier, as you know. My fear is there is no test to completely rule out he is a carrier. Genetics is just not 100%.

Status: Offline

Apr 13th, 2012, 15:32 PM	#4
overcomer79 Mum (Mom) BnB Addict Join Date: Jan 2009 Posts: 4,428	Is this your first? I just researched PKU and I have to say I would be worried and upset. Can they not do an amnio just to make sure? I know that wouldn't change the decision but at least you would know one way or ther other. I would seriously let your dr know how much this is stressing you out. Normally I am against amnios 100 percent but from what I read, it doesn't express itself until the baby is older so its not like when he/she is born, you know. Either way I'm praying for your LO and that your OH is not a carrier. 1 in 50 sounds a bit high but if you think on it, it is only 2 percent of Caucasians.

Status: Offline

Apr 13th, 2012, 15:37 PM	#5
overcomer79 Mum (Mom) BnB Addict Join Date: Jan 2009 Posts: 4,428	I just noticed your conception attempts too. I would really think it would be rare for two people to be together that has the carrier. If you think about it, you were in the 2 percent. Your OH tested negative, good sign. Please don't stress by googling hun. It will not do LO any good and stressing won't do you any good. I would say with your attempts, an amnio might not be a good ideal but maybe mentally prepare yourself with the possibility and educate yourself and just do the best you can with your situation.

Status: Offline

Apr 15th, 2012, 01:18 AM	#6
Sproglet Mum (Mom) BnB Addict Join Date: Mar 2012 Posts: 3,298	Don't forget- even if hubby was a carrier, the risk of the baby having PKU is only 1/4 ( so it isn't definite!) because they have to inherit both your faulty genes to get it. also the risk of LO being a carrier is 1/2. I am sure they will test LO as soon as he/she is born so if he/she does have PKU you will find out for definite then. In the meantime I would research PKU- but don't stress about it too much. In the unlikely event that baby has PKU you will have a little bit of time to prepare yourself because it's only a concern once baby starts weaning, right?

Status: Offline

Apr 15th, 2012, 19:38 PM	#7
Miss Jennifer Pregnant (Expecting) Active BnB Member Join Date: Jul 2010 Location: New Jersey, USA Posts: 450	Thank you so much for your responses. My first thought was amnio, but then when I had a second to calm down, I knew I couldn't put my baby at risk for my own well being or peace of mind. Even my doctor said we would not move forward with an amnio because it's not a disorder most people terminate for. He said it was my decision of course. What I did find out is the test my husband had only has 43% accuracy, so it missed 57% of PKU carriers. There is a gene sequencing test done by a simple blood draw that determines with greater than 97% accuracy if a person is a carrier. I'm meeting with a genetics team and will see if this is an option. Thank you for your care and concern - this is my first and it took ALOT to get here!!!

Status: Offline

Apr 19th, 2012, 12:11 PM	#8
Babysept Father to be New BnB member Join Date: Apr 2012 Posts: 4	Hi Jennifer, I am currently 18 weeks pregnant and can tell you all you need to know about PKU as I have it so please ask anything you want. I am 29 and was diagnosed at birth and have been on the specialised low protein diet for life. I have lead a perfectly normal life PKU although it sounds scary when you research it is not something to be worried about - even if your husband is a carrier of the gene there is still only a one in four chance that you child will have PKU- I'm the only one of 4 in my house to have PKU ! Let me know if there is any other info you need

Status: Offline

Jun 27th, 2012, 03:32 AM	#10
PKU Mumma Waiting To Try (WTT) New BnB member Join Date: Jun 2012 Posts: 2	PKU babies can be healthy! Hi Miss Jennifer, I too have PKU. I am 29 and am perfectly healthy! I am currently trying to get my phenylalinine levels down so I can fall pregnant. While this isn't easy and neither was having PKU in general... I have had an amazing life and I wouldn't have had some of the wonderful experiences I have if I didn't have PKU. My sister also has PKU and we are both healthy and very happy! Whilst it must be very scary to think of what could happen especially when you research it please don't be too scared as your baby has just as much chance of being happy and healthy as any other baby as long as they stay on their diet throughout their life. The new products that have come out over the years have made my life easier and easier as I get older! Like the other woman with PKU said... if you have any questions or would like to chat about anything please don't hesitate to contact me!

Status: Offline

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PKU Carrier anyone?

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