Re: pregnant and wondering about hereditary things

[Guest guest]

DeeDee

Congratulations on your pregnancy. I know that it can be a bit overwhelming dealing with everything and being pregant too. I was in the same boat last year. My son Owen has a carnitine deficiency but his is believed to be a secondary disorder. (Still trying to get a diagnosis on the first one) As far as prenatal testing, depending on whether or not you have a diagnosis, some disorders do have some testing available. You should talk to a geneticst about that as soon as you can.

My son Owen just turned three and my newer baby, Gabe just turned 9months, and he is doing great. As far as screenings, there is a newborn screening that is taking place in most states now that can catch over 30 different disorders. My new baby had the screening. We live in Massachusetts. If your state does not offer the screening, as your OB or Pedi about it. Screenings are available and are very inexpensive for those states that it is not mandatory.

Many metabolic issues are hereditary, however, things can happen for many different reasons and they are not always necessarily hereditary. As far as what is hereditary though, there are many, many patterns of inheritance so I would not want to try to answer that question for you. Make sure your OB is aware of your childs problems so that any and all possible screening would be available to you. Amnio, AFP, Level 2 ultrasound, etc.. All my best to you DeeDee. I have been there, and now I have a healthy beautiful little 9 month old.

Sincerely,

Bridget

pregnant and wondering about hereditary things

I recently wrote about my 3 year old being carnitine deficient and needing a low fat diet.I was just wondering if anyone knows if these things are hereditary.I just found out yesterday that I am about 2 months pregnant and am concerned about this baby having all the same problems my son is having.Also I was wondering if there are any prenatal tests or screening tests for the baby after birth to look for metabolic problems in this area? If anyone has any ideas,I'd like to hear from you.Thank you!DeeDeePlease contact mito-owner with any problems or questions.

[Guest guest]

DeeDee

Congratulations on your pregnancy. I know that it can be a bit overwhelming dealing with everything and being pregant too. I was in the same boat last year. My son Owen has a carnitine deficiency but his is believed to be a secondary disorder. (Still trying to get a diagnosis on the first one) As far as prenatal testing, depending on whether or not you have a diagnosis, some disorders do have some testing available. You should talk to a geneticst about that as soon as you can.

My son Owen just turned three and my newer baby, Gabe just turned 9months, and he is doing great. As far as screenings, there is a newborn screening that is taking place in most states now that can catch over 30 different disorders. My new baby had the screening. We live in Massachusetts. If your state does not offer the screening, as your OB or Pedi about it. Screenings are available and are very inexpensive for those states that it is not mandatory.

Many metabolic issues are hereditary, however, things can happen for many different reasons and they are not always necessarily hereditary. As far as what is hereditary though, there are many, many patterns of inheritance so I would not want to try to answer that question for you. Make sure your OB is aware of your childs problems so that any and all possible screening would be available to you. Amnio, AFP, Level 2 ultrasound, etc.. All my best to you DeeDee. I have been there, and now I have a healthy beautiful little 9 month old.

Sincerely,

Bridget

pregnant and wondering about hereditary things

I recently wrote about my 3 year old being carnitine deficient and needing a low fat diet.I was just wondering if anyone knows if these things are hereditary.I just found out yesterday that I am about 2 months pregnant and am concerned about this baby having all the same problems my son is having.Also I was wondering if there are any prenatal tests or screening tests for the baby after birth to look for metabolic problems in this area? If anyone has any ideas,I'd like to hear from you.Thank you!DeeDeePlease contact mito-owner with any problems or questions.

[Guest guest]

DeeDee

Congratulations on your pregnancy. I know that it can be a bit overwhelming dealing with everything and being pregant too. I was in the same boat last year. My son Owen has a carnitine deficiency but his is believed to be a secondary disorder. (Still trying to get a diagnosis on the first one) As far as prenatal testing, depending on whether or not you have a diagnosis, some disorders do have some testing available. You should talk to a geneticst about that as soon as you can.

My son Owen just turned three and my newer baby, Gabe just turned 9months, and he is doing great. As far as screenings, there is a newborn screening that is taking place in most states now that can catch over 30 different disorders. My new baby had the screening. We live in Massachusetts. If your state does not offer the screening, as your OB or Pedi about it. Screenings are available and are very inexpensive for those states that it is not mandatory.

Many metabolic issues are hereditary, however, things can happen for many different reasons and they are not always necessarily hereditary. As far as what is hereditary though, there are many, many patterns of inheritance so I would not want to try to answer that question for you. Make sure your OB is aware of your childs problems so that any and all possible screening would be available to you. Amnio, AFP, Level 2 ultrasound, etc.. All my best to you DeeDee. I have been there, and now I have a healthy beautiful little 9 month old.

Sincerely,

Bridget

pregnant and wondering about hereditary things

I recently wrote about my 3 year old being carnitine deficient and needing a low fat diet.I was just wondering if anyone knows if these things are hereditary.I just found out yesterday that I am about 2 months pregnant and am concerned about this baby having all the same problems my son is having.Also I was wondering if there are any prenatal tests or screening tests for the baby after birth to look for metabolic problems in this area? If anyone has any ideas,I'd like to hear from you.Thank you!DeeDeePlease contact mito-owner with any problems or questions.

[Guest guest]

DeeDee;

Dr in Canada did a lot of work on in utero Mito testing. There was

an article on the UMDF Newsletter some time ago ... so ... perhaps if you

call UMDF they may be able to send you the article. Contact information for

UMDF is on their website at <www.umdf.org>

Jean

PS ... Congratulations!

ladwig8 wrote:

> I recently wrote about my 3 year old being carnitine deficient and

> needing a low fat diet.

> I was just wondering if anyone knows if these things are hereditary.

> I just found out yesterday that I am about 2 months pregnant and am

> concerned about this baby having all the same problems my son is

> having.

> Also I was wondering if there are any prenatal tests or screening

> tests for the baby after birth to look for metabolic problems in this

> area? If anyone has any ideas,I'd like to hear from you.

> Thank you!

> DeeDee

>

> Please contact mito-owner with any problems or questions.

>

>

[Guest guest]

DeeDee

Look up the following site for information on newborn metabolic testing: Tyler for life foundation http://tylerforlife.com

mom to Kayley (03/16/00 - 23/09/00 Leigh's) and Sinead 3yrshttp://myweb.freecasa.com/MCMA8011

[Guest guest]

DeeDee,

I don't know about prenatal testing, but I do know that families are sometimes encouraged to pursue testing on siblings. Some of the cases where this might occur would be if there is any type of family history, if you suspect symptoms in the second child, if your child with carnitine deficiency begins to show change in symptoms (i.e. begins to worsen in some area). I'm sure there are other reasons for testing as well.

We did not pursue testing on our oldest son, Mitch, (he is now almost 7) because he has always been symptom free until the last two months. We are now waiting for direction from the metabolic clinic to see how much and what type of testing to do with him. His symptoms are much less severe than his sister, Lexi who showed symptoms from birth.

I wish you a happy and healthy pregnancy....

ruth for the hilandgang

[Guest guest]

I didn't see the original message, so sorry if I'm off base here. The only thing my geneticist said was that if they know what the genetic defect is, they can test for it in advance. But, in cases like my son, where they think it's autosomal recessive and the nuclear DNA that codes for the mitochondrial function is defective, there is no way to test for it. They just don't know where the nuclear DNA mutations are that cause mito. She told me that if we wanted another baby, she would suggest using a donor egg or sperm.

I think I might want one (or two!) more children one day. There's a part of me that feels like just getting pregnant again, but as of now, we are considering adoption.

Lori and

Re: pregnant and wondering about hereditary things

DeeDee, I don't know about prenatal testing, but I do know that families are sometimes encouraged to pursue testing on siblings. Some of the cases where this might occur would be if there is any type of family history, if you suspect symptoms in the second child, if your child with carnitine deficiency begins to show change in symptoms (i.e. begins to worsen in some area). I'm sure there are other reasons for testing as well. We did not pursue testing on our oldest son, Mitch, (he is now almost 7) because he has always been symptom free until the last two months. We are now waiting for direction from the metabolic clinic to see how much and what type of testing to do with him. His symptoms are much less severe than his sister, Lexi who showed symptoms from birth. I wish you a happy and healthy pregnancy.... ruth for the hilandgang Please contact mito-owner with any problems or questions.

[Guest guest]

I feel like getting pregnant too sometimes -- and I'm a man.

Mito is so inheritable and so catastophic and so incurable and so likely, I suggest you resist the urge.

The particular mito (melas) disorder in my family's line is so entirely passed on by only the female that, yes, using a donated egg is technically available and has a high change of melas free children.

However, many mito disorders are inheretible from even the father. The "art" of genetic counseling leaves a lot to be desired as they don't know enough yet about all the manifestations, cases, causes, etc. of mito disorders. I supposedly cannot pass on the melas, but I have stopped at one child. Just my 2 cents.

********

On Wed, 23 Jan 2002 20:32:09 -0600 "Lori Cutillo" writes:

I didn't see the original message, so sorry if I'm off base here. The only thing my geneticist said was that if they know what the genetic defect is, they can test for it in advance. But, in cases like my son, where they think it's autosomal recessive and the nuclear DNA that codes for the mitochondrial function is defective, there is no way to test for it. They just don't know where the nuclear DNA mutations are that cause mito. She told me that if we wanted another baby, she would suggest using a donor egg or sperm.

I think I might want one (or two!) more children one day. There's a part of me that feels like just getting pregnant again, but as of now, we are considering adoption.

Lori and

Re: pregnant and wondering about hereditary things

DeeDee, I don't know about prenatal testing, but I do know that families are sometimes encouraged to pursue testing on siblings. Some of the cases where this might occur would be if there is any type of family history, if you suspect symptoms in the second child, if your child with carnitine deficiency begins to show change in symptoms (i.e. begins to worsen in some area). I'm sure there are other reasons for testing as well. We did not pursue testing on our oldest son, Mitch, (he is now almost 7) because he has always been symptom free until the last two months. We are now waiting for direction from the metabolic clinic to see how much and what type of testing to do with him. His symptoms are much less severe than his sister, Lexi who showed symptoms from birth. I wish you a happy and healthy pregnancy.... ruth for the hilandgang Please contact mito-owner with any problems or questions.

[Guest guest]

You know, this is really a sticky ethical issue. I agree with you and will not have any more biological children. But, there are many people who go ahead. And consider this, if you had known in advance (in utereo), you would have likely terminated the pregnancy and would not have your child. A child that has an incurable disease is a blessing and has a perfect soul who has much to offer and gain from life (usually). I try not to stand in judgment of those who throw caution to the wind because I realize that had I known from prenatal testing, I would have terminated my mito son's pregnancy and missed the most joyous experiences of my life (and he, thankfully, has a good quality of life).

Take care! Lori

Re: pregnant and wondering about hereditary things

DeeDee, I don't know about prenatal testing, but I do know that families are sometimes encouraged to pursue testing on siblings. Some of the cases where this might occur would be if there is any type of family history, if you suspect symptoms in the second child, if your child with carnitine deficiency begins to show change in symptoms (i.e. begins to worsen in some area). I'm sure there are other reasons for testing as well. We did not pursue testing on our oldest son, Mitch, (he is now almost 7) because he has always been symptom free until the last two months. We are now waiting for direction from the metabolic clinic to see how much and what type of testing to do with him. His symptoms are much less severe than his sister, Lexi who showed symptoms from birth. I wish you a happy and healthy pregnancy.... ruth for the hilandgang Please contact mito-owner with any problems or questions.