This girl!

This girl!

Monday, April 29, 2013

I won't be my daughter's enabler!

I said before I was going to talk about Sophia's progress and each one of the therapies she is receiving and how far she has gotten, and I will but today I need to skip all the way to the present. As of today Sophia knows how to ask for more food, she grabs my hand and puts it on the bowl and opens her mouth waiting for me to put food in it, like a little bird. She knows what the spoon is for, she knows the process in order to get food in her mouth, yet she doesn't want to do it herself because she also knows that I will do it for her. I don't want her to think that she doesn't need to even try to do things because she knows her mama can do it for her. Sophia is very smart and she has shown me that on many occasions, she gets it, she understands, she  can do it. I know she can. I believe in her!

Sometime ago a woman I met at a day care said that she didn't think Sophia should go to school, "Poor girl, she doesn't even know how to walk! How is she going to be ok there?!"  She was raised in an old fashioned way, in a country like the one I come from, where when you have a special needs kid you want to protect them and do everything for them. You assume that they can't do a lot of things and they never will, so the best thing for them is to stay at home. Even if you want them to go to school, special education is so expensive that most families don't have any other option than to keep their child home.

 Fortunately, here in the United States, Sophia has all the help and resources she needs to be able to reach her potential: therapies, doctors, teachers, she even has a one on one at school. Yes, Sophia has everything she needs to be the best she can be, yet sometimes I think I'm the one who is stopping her from doing just that. By feeding her like a baby, or doing everything for her I'm enabling her to be totally dependent on me,  I do that out of love, I know,  but this is the kind of love I don't want  for her. Not from anybody, not even me.

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.

Wednesday, April 24, 2013

And then they were three.

Sophia just couldn't wait to enter this world.  I had been on the pill for few years so when my husband Eric and I decided to try to have a baby, my doctor told me it was to take at least a year for it to happen. Well, the very next month there was a Clear Blue pregnancy test saying "pregnant" on the bathroom sink.
I had my sister in law on the phone when I took the test and we were screaming and laughing and crying, I was so happy.
It was a normal pregnancy until I was 34 weeks along. After a routine ultrasound the doctor told me that he saw something strange about Sophia's head shape. He thought that it could be something called craniosynostosis which means that the bones of the head fuse prematurely and that if that was the case all we had to do is a surgery to fix it. He sent us to a special place where they do diagnosis through ultrasound in Boston. The doctor there said that there was a syndrome, there was no doubt. Sophia was not opening and closing her hands (apparently it's something they look for) and her feet had an unusual angle. They said that these three characteristics by themselves didn't mean anything but together they mean there was a syndrome. We were devastated. We hugged each other and cried. I remember that all I could say was: "I just wanted her to have a good life"

It was a Friday and that weekend was really hard since we had to wait until Monday to talk to my OB.
I cried so much. My dream of a perfect family was crushed. We didn't know what to expect and we were scared.  We decided to do an amniocentesis to know what we were dealing with and since I was 36 weeks along, the risk of inducing labor was not a big deal. The results came back showing that Sophia has a chromosomal disorder that nobody else has or at least there's no documentation of anybody with same exact combination. So my Sophia is unique!
So the amnio helped us finding out what she has but it didn't really help us knowing what to expect. We had to wait and see. And so Sophia was born at 38 weeks. She ended up not having craniosynostosis, so we didn't have to deal with a head surgery.
 She was the most beautiful baby I ever saw. I loved everything about her. Everything! even her unusual angled feet, even her two short fingers, I loved her uniqueness.  I loved my baby, she was here and she was mine, and she came here for me to love her just the way she is.

Look at this pic. Who would not love her???

How everything started...

I had to move thousands and thousands of miles away from my home town to find the love of my life and the best partner I could ever ask for.
I was an English teacher in Colombia who wanted to get some experience in an English speaking country, so I came to work at a ski resort and then extended my work visa to stay a little longer and work as a paraprofessional at a special education classroom (irony much?), there I learned more than a couple of things that would help me a few years later.
After a couple of years i was lacking of motivation to keep living so far from my family and decided to move back home for good and I gave myself 6  months to learn, to save and to enjoy this country. Little did I know that life had different plans for me. In October 2005 I met the man who would be the father of my beautiful Sophia. It was truly love at first sight, we knew we had found each other and decided to walk together from that moment on. Here is a picture during our trip to San Francisco:

We got married a year later on a beautiful day in September and even though my family could not be there with us, it was one of the happiest days of my entire life. And this is how everything started.