Would you have her tested?

posted 26th Jul '12
If your first child was delayed and you got her diagnosed with a micro deletion (a tiny piece of a chromosome didn't copy in utero) and you were told it's most likely to have been a random occurrence but if one of the parents were to have it that gives each of their children a 50/50 chance of receiving the bad chromosome. If both parents have it well that guarantees it but that would be rare from what I know. My oldest didn't meet milestones on time, she ended up crawling around 18 months with a lot of physical therapy and wearing little plastic braces around her feet up to her ankles and walked at 23 months.

Her little sister seems to be meeting milestones..she crawled a little on the later side around 11 months but didn't start pulling up to stand until 13 months. Just 2 weeks ago she took a few steps towards DH but then sat down and she hasn't done but a couple of steps every once in a while since and she will sit right back down. She seems more content crawling. She will push things around and walk behind them, do you think she needs supportive shoes? She has the same feet/ankles as her sister...looks like cankles like they aren't there. So she will be 16 months on the 1st and isn't walking, would you have her tested to see if she has the micro deletion as well at this point? I'm pregnant with our third and she is due in October and i'm strongly considering having DH and I tested once we have the money so we can be prepared for it if our middle and/or third child have the same disability.
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I have 3 kids & live in Arkansas
posted 26th Jul '12
If it isn't incredibly invasive, yes, I would. I would rather know for sure than wonder every day.

Best of luck!
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I have 2 kids & 3 angel babies & live in Switzerland
posted 26th Jul '12
I would. Especially if your worried about it. Does it delay them only physically?
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I have 2 kids & live in New Jersey
posted 26th Jul '12
Isabels deletion was a random occurence.
Her daddy and I were tested and had no disorders.

So they told me there was no need to have the other children tested..
but if she EVER could have children theyd most definitely have the syndrome.

Isabel's delayed now.. she was not at first. She experiences hypotonia..
She barely can hold her head up now. She is also starting physical therapy early.
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I have 4 kids & live in Kingsport, Tennessee
posted 26th Jul '12
Quoting L&J ♥:" I would. Especially if your worried about it. Does it delay them only physically?"
Oh no, my oldest has been delayed in all gross and motor skills. She is 3 and only uses a handful of words, hasn't used a sentence yet. Speech wise she is below a 2 year old's level. She has needed help learning how to do things like put shapes into the correct cut outs and just ALL of that stuff so she is in preschool at First Step where she receives therapy.
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I have 3 kids & live in Arkansas
posted 26th Jul '12
Quoting Heather[AJB]+1 DIVA:" Isabels deletion was a random occurence. Her daddy and I were tested and had no disorders. So they told ... [snip!] ... was not at first. She experiences hypotonia.. She barely can hold her head up now. She is also starting physical therapy early."
Yeah if it's just one of the chromosomes in the pair that have a deletion or micro deletion and they don't end up having babies with someone missing a piece of the same chromosome pair then her children have a 50/50 chance of receiving the bad chromosome   . I hate it for Isabela because that would be so hard for her to go through just as it's hard for you and your SO or DH and I know it's hard on little Isabela. I'm so glad you and her father don't have it, it's something that you probably would have known about with its severity though, huh? I hate that about the hypotonia, my oldest has low muscle tone as well it can be part of her micro deletion so that had to have played a part in delaying her crawling and walking. The PT she had that helped her learn to crawl believed she had low muscle tone in her hips and ankles, she was the one to refer her to a prosthetic and Orthotic place here in town to get the braces.
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I have 3 kids & live in Arkansas
posted 26th Jul '12
Quoting Vindictive:" If it isn't incredibly invasive, yes, I would. I would rather know for sure than wonder every day. Best of luck!"
Well she was first sent to a neurologist who studied her, took urine and a blood sample and I believe they found the unusual result in her blood work and they sent that to the Geneticist so hopefully it's just blood work. I think we should do it, like you said better than wondering   thanks lady!
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I have 3 kids & live in Arkansas
posted 26th Jul '12
<blockquote><b>Quoting I Love Dem Baybees!:</b>" Oh no, my oldest has been delayed in all gross and motor skills. She is 3 and only uses a handful of ... [snip!] ... shapes into the correct cut outs and just ALL of that stuff so she is in preschool at First Step where she receives therapy."</blockquote>


Oh wow.. than yeah i would definitely have her tested
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I have 2 kids & live in New Jersey
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