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

Tue Aug 16 02:19:59 UTC 2011

Ronit, that is wonderful that you're a genetic counselor!  When I went to my
genetic counselor in Portland, OR at the Casey Eye Institute she was
fabulous as well and explained everything very thoroughly.  Additionally,
she made me feel very comfortable and not bad at all for wanting children.
It was nice to be able and educate myself as much as possible about not only
my own eye condition but also about what to expect and prepare myself for
when it came to future children.  I personally recommend going to a genetic
counselor and just like any professional you might go to, if you don't like
how someone is treating you then find someone who is kind and professional
about how they do their job.  I learned myself that it's important to check
pride at the door when it comes to talking to folks like this because no
matter how kind and professional someone is facts can sometimes be a hard
pill of reality to swallow.

Erin

-----Original Message-----
From: blparent-bounces at nfbnet.org [mailto:blparent-bounces at nfbnet.org] On
Behalf Of Ronit Ovadia Mazzoni
Sent: Monday, August 15, 2011 3:10 PM
To: NFBnet Blind Parents Mailing List
Subject: Re: [blparent] preg, ultrasound, etc. (all in one msg)

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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