[blparent] preg, ultrasound, etc. (all in one msg)

Mon Aug 15 22:10:29 UTC 2011

I just wanted to jump in on this topic since there was some discussion about genetic counseling. I am a genetic counselor and it is definitely a choice whether you receive genetic counseling or not, but just know that genetic counselors don't "push" anyone to do anything. Termination or not, it is always your choice and even if there is no test to look for a certain eye condition, it is sometimes helpful to learn about the genetics of a certain condition just to be aware of it. Doctors don't do a very good job educating patients about the inheritance of a condition, so that is the job of the genetic counselor.

Just wanted to show that not all genetic counselors are bad. :) I'm totally blind and use my blindness to my advantage all the time when it comes to educating my patients about my disability. Blind people and disabled people can do everything they want to, and now I can add "being a mom" to my list of things I've done. :)

If anyone has any other questions about genetic counseling, I'd be happy to answer them. I really don't want this profession to get a bad wrap from the blindness community and I am trying hard to educate everyone about what we really do. Granted, genetic counselors need to be more open to people with disabilities, but I am working on educating my coworkers and colleagues as well about this.

Ronit

On Aug 15, 2011, at 1:59 PM, Erin Rumer wrote:

> Yes, I'm from a family of 4 kids and I'm the only one with LCA.  However, I
> do know of several people where some of their siblings and a parent has it
> along with some other relatives outside of the immediate family.  It's funny
> how genetics work.  It just all depends on what type of genes they are along
> with who are carriers.  I'm a firm believer that everything happens for a
> reason so it really doesn't matter if a child turns out to be blind or just
> a carrier as long as they have all the love and support they need in life
> just like all children need.
> 
> I was super touched the other day because Dawson and I were at our breast
> feeding support group that we go to on Thursdays and a mom came in with her
> 16 month old son who has downs syndrome.  Dawson and this little boy began
> to play right away and share toys.  The mom excitedly pulled her camera out
> and said that Dawson was the very first baby to get the chance to play
> one-on-one with her son because he's been recovering from multiple surgeries
> for so long.  I was so honored that my son could be that little guy's first
> play mate and it touched me even more to see how much in love this mom was
> with her baby and he with her.  I wish all those parents out there that get
> caught up with stupid stuff like hair color and comparing all their baby's
> mile-stones with the babies around them could see what I saw the other day
> and get a reality check on what's really important.
> 
> Erin
> 
> -----Original Message-----
> From: blparent-bounces at nfbnet.org [mailto:blparent-bounces at nfbnet.org] On
> Behalf Of Deborah Kent Stein
> Sent: Monday, August 15, 2011 11:56 AM
> To: NFBnet Blind Parents Mailing List
> Subject: Re: [blparent] preg, ultrasound, etc (all in one msg)
> 
> 
> 
> About LCA, my brother and I both have it and it hasn't turned up anywhere
> else in the family.  It is an autosomal recessive condition, which means
> that both parents have to be carriers and then there is a 1 in 4 chance that
> a child will be affected.  To my knowledge there is still not a prenatal
> test to detect whether a fetus will have the condition.  There are about a
> dozen retinal conditions that are all called LCA, and the genes for several
> of them have been identified.
> 
> Debbie
> 
> ----- Original Message -----
> From: "jan wright" <jan.wrightfamily5 at gmail.com>
> To: "blparent" <blparent at nfbnet.org>
> Sent: Monday, August 15, 2011 1:40 PM
> Subject: Re: [blparent] preg, ultrasound, etc (all in one msg)
> 
> 
>> Thanks to all who wished congrats. i am counting down weeks/days.
>> Hi jill,
>> Thanks and I had not heard of the name Hilmi. I'll ask my dh. i wonder
>> if it is a nickname or full name.
>> i like Samandar and Taj. But, DH does not.
>> Yakub or Yaqub is not bad.
>> We still have Zariyaan. (pronounced like Zahr- ee - on).
>> Erin, It is quite strange because my DH and his sister both have LCA,
>> but no one else in his family has ever had it. He has two other sibs
>> that do not have it and a whole slew of cousins, etc.
>> I guess that means that our child will be a carrier. Honestly, DH
>> didn't know much about his disease. The doctors did not tell him much
>> -- just tried to cure him; which obviously didn't happen. I don't
>> think that he actually "knew the exact name of his eye disease until
>> he saw doctors from the USA. But, i could be wrong. What i do know is
>> that he knew very little about his eye disease.  I read that it was
>> uncommon for a child to have it unless both people are carriers. i
>> don't think that i am. But, honestly, i don't know much more about it
>> and was reluctant to do the genetic counseling thing because; well, it
>> already seemed like they were leaning to the "you might want to
>> terminate," and i just didn't need that stress.
>> Cravings:
>> It is strange that you mention hard Boiled eggs:
>> mine is Hard boiled eggs and ice cream right after.
>> or peanutbutter and cream cheese sandwiches.
>> 
>> V: from what i heard, the placenta doesn't move, right?
>> so, the baby just has to move, right?   The placenta is between me and
>> baby. i don't know, the tech didn't mention possible complications,
>> but maybe she would leave that up to the doctor.????
>> 
>> Carriers: the hard thing is that you can't try them for 1-2 hours to
>> see if they are going to hurt your back. And, you will have to put a
>> 10lb of sugar or something in the carrier to simulate a baby before
>> buying.
>> (smile)
>> 
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> 
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