It's been a while...

I can’t believe it has been so long since I have given you an update on our sweet girl. It may have something to do with the fact that I was completely swamped by school and student teaching this past Fall. So I’ll try to catch you up on our life the past few months. In September we moved back into our house. As most of you know, we house sat for some dear friends while they did mission work in Peru. During that time we rented our house out to close friends of ours. When the whole house switch-a-roo was done, we completely gutted our kitchen and renovated while we lived at my parents. We have been so pleased with the renovation and have enjoyed being back home.

September through December were spent just trying to keep our heads above water. A marriage plus a two year old plus a crazy busy semester of student teaching and just life proved to be a lot to handle. Fast forward to December…FINALLY, I graduated from LSU. Oh happy day! And somewhere in between we had EK's 2nd birthday, Thanksgiving, and Christmas. Here are a few pictures...




Emma Kate's 2nd birthday



Thanksgiving day



LSU Graduation




Graduation day...look closely at EK's shirt. My sister made it for EK :)






Christmas morning






Since then, I have so enjoyed being a stay-at-home-mom. I have spent much of my time getting Emma Kate caught up on doctor’s appointments and running her around to therapy. So let me give you a quick run down. In December, we saw EK’s cardiologist. She had a great check up and get this…we don’t have to back for a whole year! We also saw EK’s neurologist. We discussed our concerns as far as her development, and she suggested that we run a few tests (more on this later). In early January, we had a check-up with Dr. Black, EK’s ophthalmologist. We had been concerned that she was crossing her eyes a little. He did a very thorough exam, and found no evidence that her eyes were crossing. He said that it was an “illusion” caused by her prominent folds in the inner eye. The folds cover a good bit of the white part of the eye, making her look a little cross-eyed sometimes. Overall, he said her eyes look very healthy, although she does have a little bit of an astigmatism. Thankfully, he said glasses were not necessary right not, and praise God for that! How the heck would I keep glasses on that child anyway?!

The next week we met with a nutritionist, and discussed EK’s growth and well, nutrition, duh! EK has grown so much since her heart surgery in May. She’s gained such good weight that we were able to cut her back on her overall calorie intake. This was great news for me, because this is one less time I have to try to keep her still to feed her. That same week, we had an OT, PT, and Speech evaluation at Woman’s to get EK on their schedule for more therapy. Now she will get OT once a week, and PT and Speech every other week through Early Steps, and OT and Speech once a week and PT every other week through Woman’s. Got that? Yeah, me either.

Last week, we had a swallow study that was one fantastic disaster. Basically EK screamed so much that we gave up feeding her after one bite. The great news is that she didn’t aspirate while screaming, so that’s good news. My opinion is that since she’s two, and has never had pneumonia, she’s probably not aspirating. We also went to New Orleans to follow up with ENT. She had a great check-up there, and we’ll see her again in about six months. She also has an appointment with G.I. in a few weeks.

Now, my real reason for this post…Remember those tests that the neurologist wanted to run? Well, we got the results this week, and we finally have a real, true diagnosis for our girl. The test we did was called a chromosomal microarray. CMA is a relatively new test that is designed to look at the chromosomes in a more detailed way. After doing this test we learned that EK has a condition called 2Q37 deletion syndrome. In a nut shell 2q37 deletion syndrome is caused by a deletion of genetic material from a specific region in the long arm of chromosone 2. This is extremely rare, and there are only about 90 cases reported world-wide. Perhaps we should start playing the lottery...what are the chances?? This diagnosis explains so many questions that we have had for so long. It explains the feeding problems, the heart defects, the short stature and tiny fingers and toes, and the developmental delay. Because there are so few cases of this, there is not really a lot of information about it. There is also a really wide range of what we can expect from her. Here are some links that you can go to if you would like to know more.

http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=del2q37_2

http://www.rarechromo.org/information/Chromosome%20%202/2q37%20deletions%20FTNW.pdf

http://www.lerner.ccf.org/gmi/research/2q37/documents/2q37-FactSheet.pdf

The great news is that Emma Kate seems to be more mildly affected than some reported cases. Also, this condition is closely linked with autism, and there is nothing that makes me think that she is autistic. She smiles, laughs, plays with a wide range of toys, is affectionate, and is a little social butterfly! I am thankful that this is the case, because her development would be so much more complex and severe if she was autistic too.

How are we dealing with all this information you may ask. We are surprisingly great. As scary as a real diagnosis was, it was scarier to not know. We have also dealt with so many of the blows already…the feeding tube, the heart defect, the delays, the other diagnoses that we now know are not it…so this isn’t really anything new. It just gives us an answer for so many questions. We know that this was not a mistake. This is the way the Lord knitted her together. And while knitting away, he purposely removed that small thread from her 2nd chromosome. We will praise Him, because she is fearfully and wonderfully made! I am just so happy that she is ours. She is such a rare and special angel, and I feel so honored to be her mommy. My dreams are still as big for her as the day I found out I was pregnant. They may be a little different, but they are definitely no less grand! As far as what we will do next…I’m not really sure. We have been doing what we were supposed to do all along…we’ve seen all the right and wonderful doctors and have had her in therapy since she was 6 months old. Our plan is to keep loving her to pieces, and time will tell exactly what she is capable of. We also know that each small step is a big one, and will continue to rejoice with each new milestone.

As I close my novel, I want to leave you with something that I love. It is a great analogy that explains what it’s like to have a special needs child. I couldn’t explain it any better. Thank you for checking on our Teeny Queeny. And thank you for loving us so well! We are truly blessed with friends and family like you!



Welcome To Holland
by Emily Perl Kingsley

I am often asked to describe the experience of raising a child with disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......
When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."
"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."
But there's been a change in the flight plan. They've landed in Holland and there you must stay.
The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It’s just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."
And the pain of that will never, ever, ever, ever go away...because the loss of that dream is a very very significant loss.
But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.