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	<title>Girl in a Party Hat &#187; Mosaic Down syndrome</title>
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		<title>One Brave Mom</title>
		<link>http://girlinapartyhat.com/index.php/2008/11/one-brave-mom/</link>
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		<pubDate>Thu, 06 Nov 2008 21:22:26 +0000</pubDate>
		<dc:creator><![CDATA[Amysilverman]]></dc:creator>
				<category><![CDATA[Uncategorized]]></category>
		<category><![CDATA[children]]></category>
		<category><![CDATA[Down syndrome]]></category>
		<category><![CDATA[family]]></category>
		<category><![CDATA[friends]]></category>
		<category><![CDATA[geneticist]]></category>
		<category><![CDATA[Mosaic Down syndrome]]></category>
		<category><![CDATA[mosaicism]]></category>
		<category><![CDATA[parenting]]></category>

		<guid isPermaLink="false">http://girlinapartyhat.wordpress.com/?p=674</guid>
		<description><![CDATA[I met the most remarkable woman yesterday. We&#8217;d been emailing for weeks (months?) about our daughters. The woman lives in town, friend of a friend of a friend. My daughter is 5; we found out she had Down syndrome when she was several days old. Still, I remember the time before the diagnosis felt like eternity. [&#8230;]]]></description>
				<content:encoded><![CDATA[<p>I met the most remarkable woman yesterday.</p>
<p>We&#8217;d been emailing for weeks (months?) about our daughters. The woman lives in town, friend of a friend of a friend.</p>
<p>My daughter is 5; we found out she had Down syndrome when she was several days old. Still, I remember the time before the diagnosis felt like eternity.</p>
<p>This woman&#8217;s situation is worlds apart. She learned her daughter had Down syndrome when she was 3 years old.</p>
<p>You didn&#8217;t misread that.</p>
<p>I might have made a quick reference to this after I first learned of it &#8212; so forgive my redundancy &#8212; but the story is one I can&#8217;t stop replaying in my mind.</p>
<p>The baby was born to young parents (unlike me and my &#8220;geriatric maternal age&#8221; at 36) so there wasn&#8217;t the hint of a problem. And Baby Girl was perfectly normal, happy, healthy. But by the time she was 2 and a half, Mom noticed she wasn&#8217;t saying much. After months of debate and discussion and doctor visits, the pediatrician finally came up with a brilliant idea: a blood test.</p>
<p>Turns out, Baby Girl (now Little Girl) has a relatively rare form of Down syndrome called mosaicism. I&#8217;m not Science Girl, but basically it means that where every one of my Sophie&#8217;s cells is affected by Trisomy 21, Little Girl&#8217;s got &#8220;normal&#8221; cells along with the kind you see in Down syndrome.</p>
<p>It manifests differently in every case, but in this one it means that Little Girl looks totally typical. She has curly hair. Her mom was amazed to hear that Sophie&#8217;s hair is straight, while Annabelle, Ray and I range from curly to wavy depending on the humidity.</p>
<p>&#8220;Yeah, I asked the geneticist about it,&#8221; I told her, explaining that people with Down syndrome don&#8217;t have curly hair. Almost never. &#8220;He looked horrified.&#8221; (I don&#8217;t blame him; my kid was about to have open heart surgery and I was asking about her hair. Shoot me. I like distractions.)</p>
<p>We had the same geneticist, and I remember at the time we saw him, when Sophie was 3 months old, Ray remarked that the old guy seemed pretty bored. Run of the mill DS has to be the most common thing he sees. Yawn.</p>
<p>&#8220;Was he fascinated by your situation?&#8221; I asked. Oh yes, Mom replied. He kept them in his office for two hours.</p>
<p>Little Girl is getting all the services Mom can muster; she&#8217;s about to start pre-school; Mom and Dad have read the books, done the homework. She has stomach and thyroid issues common to DS. Funny, Sophie doesn&#8217;t have either. (Not yet, at least.)</p>
<p>But I wonder how Little Girl will match up with Sophie. All kids are different &#8212; and kids with DS are no exception &#8212; but I have to admit I&#8217;m curious. I want to meet Little Girl.</p>
<p>I had to ask. I leaned across my Bento box, feeling (and I&#8217;m sure looking) a little nervous. The topic hadn&#8217;t been broached.</p>
<p>&#8220;Um, so, in your life, have you ever known anyone with Down syndrome?&#8221;</p>
<p>Mom shook her head. Me either, I told her.</p>
<p>&#8220;Have you met anyone with it, since, well, you know&#8230;.&#8221;</p>
<p>No. She hasn&#8217;t.</p>
<p>I remembered how I felt, and how I still feel. I&#8217;ve tested the waters with kids who have DS, but I have to admit that I still haven&#8217;t truly forged a relationship with an adult with DS. I keep swearing I will. One of my dozens of unkept New Year&#8217;s resolutions this year was to volunteer at the local ARC rec center. It hasn&#8217;t happened, and I&#8217;d like to say it&#8217;s only because I&#8217;m busy. But it&#8217;s also because I&#8217;m scared.</p>
<p>I wondered if Sophie was scary, in a similar way. I know she would be to me, if the tables were turned.</p>
<p>There was nothing else to do. I dove in.</p>
<p>&#8220;I think you should meet Sophie,&#8221; I said. &#8220;I don&#8217;t want that to freak you out. I think she&#8217;s awesome&#8221; (I&#8217;d already done quite a bit of bragging) &#8220;but I know it&#8217;s not the same. I don&#8217;t want it to be weird.&#8221;</p>
<p>She didn&#8217;t hesitate. She wants a play date.</p>
<p>In any case, I think I&#8217;ve made a friend.  </p>
<p>We hugged goodbye on Mill Avenue where our paths took us in different directions, and I got into my car, shaking my head. She says she was like a cat stuck over a bathtub, resisting the water, but I didn&#8217;t see that in this woman.</p>
<p>All I saw was one brave mom.</p>
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