[blparent] genetics

[Deborah Kent Stein]

Hey, I never thought about that particular form of irony!  Two sighted 
people producing a blind child and then worrying over blind parents "passing 
it on."  Surely Ronit can give us a lot more information about LCA than I 
can.  It's my understanding that the various forms are all retinal 
conditions that are present at birth.  Some cause congenital total 
blindness.  In some forms there is low vision, and in some the visual 
impairment is also linked to other conditions such as kidney problems, 
hearing loss, and seizures.  There are some claims that LCA is linked with 
autism, but that is said about virtually every form of congenital blindness, 
and the "autism" is often reversible.  (Another topic for another day!)

Debbie


----- Original Message ----- 
From: "jan wright" <jan.wrightfamily5 at gmail.com>
To: "blparent" <blparent at nfbnet.org>
Sent: Tuesday, August 16, 2011 2:22 PM
Subject: [blparent] genetics


> Erin, this is so neat! And, the thing is that i have noticed that
> children (even at an early age) mimick their parents' reactions to
> disabled people. When parents harbor some discomfort about disability
> -- and even skin color;  their children internalize it and do the
> same. Glad that this did not happen in your case. It makes me hopeful.
> yes, I agree! i knew a mother who wanted a boy so much that when she
> found out that she was having a girl, she openly grieved and thought
> about giving her daughter to another relative to raise. sometimes,
> people want a little clone and not a real baby.
>
>
>
>
> Deborah,
> you wrote:
> "There are about a
> dozen retinal conditions that are all called LCA, and the genes for 
> several
> of them have been identified."
> Are there differences in the severity and symptoms, etc? I find it a
> bit humorous/ironic.
> His parents were concerned about us marrying. They wondered about us
> having a blind child and they wondered how we would cope with everyday
> life challenges. of course, the old mantra: "it would be easier with a
> sighted person," reared its ugly head.
> And, now to know that they both contributed to their children having
> LCA: as sighted parents, but i may very well not have the gene at all.
> I'm not saying that they caused their children's blindness. I am just
> saying that they  were so worried that two blind people would produce
> a blind child: and it was actually two sighted carriers who produced
> two.
>
> Hi Ronit,
> To be fair, i didn't get that far. It was the nurse and the midwife
> who tried to scare us for 15-30 mins about downs and then wrote in our
> chart that we wanted genetic counseling when we continued to decline
> it. Yes, it would have been nice for someone to explain more about the
> genetics of LCA; and probably other things, as well. i do understand
> about being thorough and being prepared. But, it seemed as if the
> nurse and mw had an agenda and I was nauseous  and was not in the mood
> for people who would not listen.  i'll admit that it would be
> interesting to know 'what' i am a carrier of and 'what' Dh is a
> carrier of, just for information sake! It is interesting to know
> "what" kinds of things are actually genetically linked.
> I think that geneticists do get a bad wrap because (and I do know one
> who was trying to encourage my daughter to go into the field)  because
> some do make a judgement as to "perfect" and "unwanted genes." And,
> genes that cause blindness are certainly "unwanted." This particular
> geneticists did advocate for terminating pregnancies if the child had
> a disability. But, i do realize that she could have been in the
> minority. Besides, all geneticists and counselors should understand
> that there is an element of randomness.
>
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