This girl!

This girl!

Friday, April 26, 2013

Deletion 2q36 and duplication 9p21... wait, what??

That is my friends, the name of Sophia's chromosomal disorder. Not many people can say that they have their karyotype or chromosome "map" and yet Sophia does:



Deletion 2q36 means that her chromosome number 2 is missing a part from the longer arm (q) in the segment 36, you can see it on the map colored in green. Duplication 9p21 means that her chromosome number 9 has extra material of the shorter arm (p) in the segment 21 and it's placed on the top of number 2.

 Ok, so what does that mean for Sophia? Well, because of this disorder Sophia has several disabilities like hearing loss, speech delay, feeding problems, hip dysplasia, epilepsy and hypotonia among others.  I will blog about each one of these problems one by one and I'll talk about her progress and what the prognostic is.

Since there's no literature about another person with the same exact disorder we don't know what to expect. But that has been kind of a good thing. You see, we din't know whether she was going to be able to do things like sit up independently  and she did. Or whether she was going to make eye contact and interact with us, and oh boy she does. We didn't know if she was going to be able to play while being on her knees, and she does.  Things that for parents of typical kids are a given for us they are a motive of celebration, like throwing a party kind of celebration. Sophia is just taking her time on hitting every milestone and we have to respect that, it's in her own time not ours and in that sense I will just take one day at a time, enjoying every single goal she meets and celebrating with Sophia and her daddy all her triumphs.


11 comments:

  1. Sofíe tu eres un angelito del cielo que vino a enseñarnos la importancia de saber disfrutar la vida con todo y sus complicaciones, con sus angustias , con su emoción , con las alegrías pero por encima de todo viniste para enseñarnos el significado del verdadero amor a todos y cada uno de los que hacemos parte de una u otra forma de tu mágico mundo.

    Te amamos mucho princesitas

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  2. My daughter does things at her own pace too.

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    1. And we need to understand and celebrate with them their accomplishments. I checked your bog, your daughter is adorable!

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  3. Hi! Just found you from Love That Max. Your daughter is beautiful!! I know a few people with random genetic anomalies, and I'm glad you've gotten her karyotype. They say the hardest part is not having any sort of diagnosis. My daughter (who has Down syndrome) has taught me to slow down a bit, allow her to do things in her own time, and she never ceases to surprise me. :-)

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  4. Thanks for stopping by Becca. It does help to know why she is the way she is. Yeah, we have to take one day at a time and give them the confidence they need to reach each goal and celebrate with them.

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  5. Your blog title caught my eye from Love that Max. As another special needs mom searching for answers for my delayed son on unknown reasons. We also take things one day at a time. We celebrate all the inchstones even if they are not on a typical pace. Glad you have answers and she is a cutie.

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    1. HI, i am so sorry it took me so long to reply, I was fairly new to blogging when I wrote this post and hadn't figured how it worked then, :) but I want to say thank you for your kind words, Hope everything is well with you little one.

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  6. I came across your blog via the TToT blog hop. I'm glad that Sophia is making such a great progress. It must be hard not knowing what's ahead of you, but it seems that your little girl is finding her way, despite what the maps may say. Go Sophia!

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    1. wow! it took me only two years to reply! Thank you for being a great supporter of my Sophia Stephanie!

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  7. I've got my little genetically awesome boy (who is still undiagnosed) so I'm happy to get a chance to read your story! Sophia is gorgeous! We are at http://lousierhicksbabyboy.blogspot.ca/

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    1. Hi there, I am sorry it took me two years to reply :( but I am here! I hope you found a diagnose for your precious boy!

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