Thursday, April 12, 2012

Ella's Story: Part 2

I've been wanting to start a blog... Not because I think my life is so ridiculously interesting you all can't live another day without reading all the details. Or because I want to brag about my unbelieveably adorable children (that's just a great extra perk :)) But because of my daughter Ella. About a year ago I wrote a post on Facebook titled "Ella's Story". It was all about her birth that came a surprising 3 weeks early. Well, there's been another story "Ella's Story Part 2" that's been in the works ever since then. I've just been trying to get the courage up to write it. A lot of our close friends and family know some of this story, but up until now we haven't announced it to the "world". I've tried to come up with ways. Nothing just seemed right. Those of you who know me well know that I can't just tell a simple story. (My husband teases me about this all the time) I have to back up and tell everyone how it REALLY started and all the background information because it just makes the story that much better (I think). Well, I wanted to tell Ella's story, but I just couldn't do it without everyone knowing ALL the background information and how we got here. And for some reason it never occured to me to start a blog. Until now. So I hope you're ready for a "Maria" story! :)

December 2010
We were eagerly expecting our 3rd child in January. I had a fairly easy pregnancy (as much as one can have while chasing around a 2 and 4 year old boys!) We were excited to meet our newest family member and were waiting to find out if it was a 'he' or 'she'. I went in for my last (I thought) ultrasound and it seemed as if everything was fine. Yay! A healthy baby! The next day I got a call. They wanted me to come back in for another ultrasound-the limb length was measuring a little short and they wanted to remeasure. The nurse assured me over and over she was SURE it was nothing and not to worry. She knows my husband and me and we've both *ahem* slightly vertically challenged, so that was probably it. But they were still going to check. Just in case. But try not to worry about it. All weekend. So what did I do? Worried about it. All weekend. And of course scoured the ever reliable and almighty Google on what a short limb length could mean... When I went in for the ultrasound, Eric (the tech guy) said I measured slightly small with the boys too, but this one was just a little smaller. He said it could be nothing. But it could be something. Thanks for clearing that up... When I talked to my Dr. she said the REALLY smart Dr. who actually reads the ultrasounds (I don't know what his title is, so really smart Dr. seems appropriate) said he looked at JJ and I's height and the baby's size and said there's absolutely nothing to worry about. It didn't look like Downs Syndrome, (what I was worried about) and everything else looked great. Unfortunately my Dr. didn't look very convinced as she told me that. I tried to dig deeper and she said "There might be something else going on. We'll just have to wait and see." Talk about a difficult last few weeks of my pregnancy... I tried not to worry. I tried to enjoy it. But it was hard. Really hard.

Fast forward to January 6, 2011
I have Ella's Story posted on Facebook so I will sum it up here. I started having labor pains in the middle of the night, which I ignored and contributed to gas pains (since she wasn't due for 3 weeks and I had a C-section scheduled, they couldn't possible be labor pains!) They were. Ella came into this world at 8:20 am on January 6. She weighed 6 lb 4 oz and was 18 in long. We were so shocked and overjoyed she was here already and she was a GIRL! After almost 6 years of being the only woman in the house, I had no idea what to do with pink! She had a little fluid on her lungs since she was early, but they got it all out she was breathing fine on her own. Everything looked great! She was beautiful and perfect.


Then my Dr. came in and told me that when they did the chest x-ray (to check for fluid) it looked like her heart was enlarged, so we needed to do an echocardiogram. A little scary since all we wanted to do was cuddle her and love on her! We were at a small hospital, so thankfully they sent someone down from the big hospital to do to ECG instead of transporting her. The lady doing the ECG told me the heart did not look enlarged (It turned out to be a shadow from the thyroad-whew! coast is clear!) but she did find something else. (wait-forget the 'coast is clear' comment) Ella has a bicusped aortic valve. I didn't really know what that meant at the time. But it sounded scary. We set up an appointment with a Cardiologist. Then my Dr. came in and said through the chest x-ray they found that Ella also has some Hemi-Vertebrae. Basically, she explained, when the cells were coming together, they just came together differently. Like, not lined up right or something. It sounded a little odd, but she said that in itself wasn't really wasn't anything to worry about. It shouldn't affect her. But the fact that she had multiple "abnormalities" was a little concerning. The heart, the vertebrae, the limb length. My Dr. said, "There might be something going on". Again--thanks for clearing that up....

We told our family about these things and everyone seemed reassuring that they were SURE it was nothing. We came up with an explanation for everything. 1. The limb length-Look at my legs. Case closed. 2. The Hemi-Vertebrae-I found out a few years ago I have an extra vertebrae. So apparently random freak vertebrae issues run in our family! 3. The heart-Actually this 'bicusped aortic valve' isn't that uncommon of a heart defect. In fact, my brother-in-law's father actually had one. Obviously no relation to me, but just goes to prove that it's just one of those things that happens.

We came home blissfully enjoying our baby. We chose not to tell many people about these things that were "wrong" because 1. We just wanted to enjoy her and not talk about the "bad" things and 2. We really didn't think they were a big deal. (Sorry-apparently I like lists....)

The weeks went on. We were so in love! Her eyelashes were so long and her hair so beautiful! We saw the Cardiologist and he confirmed that her heart defect wasn't causing any harm right now and it's just something we'll continue to monitor every year. He told us sometimes people have this defect and go their whole entire lives without ever knowing it. Sometimes it does cause problems, but that's why we're monitoring it. The only problem was that Ella didn't seem to be gaining weight as fast as they wanted her to. She was gaining-just slowly. I was driving almost an hour to the Dr. weekly or more just to weigh her. I was breastfeeding, but finally started pumping and feeding her with a bottle just so I could write down and prove exactly how much she was eating.

Then at one of those weight-check appointments she coughed. It didn't sound good. They ran some tests. She had RSV. At 2 1/2 weeks old. Long story short-she was transported (via airplane) to Sioux Falls (the big hospital) for an almost 3 week hospital stay which resulted in her being intubated for 10 days.

Poor baby...

While we were there some Dr.'s came in to talk to us about what could possibly be "going on" with Ella (other than the RSV) One of them was the Genetic Dr. She assessed her, pronounced she had a small head and would have developmental delays and learning disabilities, and was testing for a Syndrome called Smith-Lemli-Opitz. Ok... maybe she was a little less harsh in saying it (didn't seem like it at the time though...) So here I was, in the hospital with my tiny baby girl, who is intubated, hooked up to multiple poles and tubes coming out in every direction. Being told that, even after she recovers from this, my daughter won't ever be "normal". Of course I handled it with strength and determination you all would admire. NOT! I broke down. I was a mess. And I tried to keep it all in.

Fast forward a few months:
The Smith-Lemli-Opitz test came back negative. Yay! Still hope that nothing is wrong. They decided to do a Micro-Array test that tests all your chromosomes to see if there is any abnormalities. That also came back showing nothing. HA! I knew it! They explained that that still doesn't mean there's not something deeper in the DNA that's different, but to me it gave me hope that they were wrong. I was starting to get a little annoyed that everyone wanted to diagnose her with something. Couldn't they see she was perfect?  She was growing, she was developing, she was FINE! We didn't share this with many people, even though on hindsight it would have been nice to have some support... We just didn't think we had much of a reason to worry and we didn't want anyone else to worry. We also didn't want anyone to look at her differently like "She might have some kind of syndrome" or feel sorry for us. We just wanted everyone to enjoy her for being her beautiful little self!

Diagnosis Day
We went in for a check-up at the Genetic Dr. and she waltzed in, threw our delicate baby, that we were always so careful with,  around a few times, went out of the room, came back in with a GIANT book, flipped to a random page and pointed to a random syndrome called "Cornelia DeLange Syndrome" (CdLS for short) and said "this is what she has". Wait--WHAT?? All I remember her talking about were the symptoms Ella DIDN'T have... some things that are typical of this syndrome are missing digits or abnormalities (nope), hairy body (she did have quite a bit of hair on her head, but no where else), eyebrows that are more arched and come together in the middle (not really that I could see...), a cleft palete (again-no), feeding problems and oral aversions requiring a G-Tube (she ate her bottle like a champ!). It seemed like the only thing that Ella did have was some reflux (being controlled by Prevacid). Oh-and the heart problem, freaky vertabrae, and small stature-but I'm pretty sure we already explained all that away, right??...

Turns out there isn't a great test to confirm this diagnosis that is 100% accurate, so for now it is just clinical. Do you think I broke down again? Weeped uncontrollably at the thought of this and googled everything I could find out about it? Nope. I was unbeliebably strong. Because I didn't believe a word of it. It just didn't make sense to me.  I didn't see it. So of course I wasn't going to tell anybody about it! I didn't want anyone else to think anything was wrong with her.  I mean, how in the world could I possible have a baby who was anything less than "perfect"... Self-righteous much??? I think so.

Anyways, the months went by and somewhere along the way I started to see it. I don't know when or how it happened, but I started to realize that my daughter, my precious Ella, was not the baby I thought she was going to be. It was a very slow process, and I'd like to again say that I handled it with dignity and grace, but again... I don't think i did. I know I didn't. I was devastated. I couldn't talk to anybody about it. I couldn't even think about it without crying uncontrollably. Those were a dark few months for me. I just did not understand how or why this could happen to us. It seemed like the absolute worst possible thing in the world. And actually, I still haven't worked through all of it. I'm hoping writing this blog will help me process some feelings I'm having a hard time with. It seemed like ALL around me, people were having "healthy" babies. Every baby I saw was a slap in the face that mine was not "perfect". That something was "wrong" with her. It was absolutely awful. And I'm sure I did the best thing possible for myself by isolating myself from everyone around me... (insert sarcasm here)

Fast forward to now.
We LOVE LOVE LOVE our precious Ella girl-our little love bug. We've been on quite the journey with her... Throw in a 5 week hospital stay with salmonella poisoning of all things... and it really puts things in perspective. I actually really wish I would have started this blog awhile ago. I think it would have helped me process things a little better, but better late than never I guess!! I will post more details on how she is doing now in the days to come (I think this is long enough for today. LoL!) For those of you who are wondering what this CdLS diagnosis means, the fact is-we don't really know. Each child (CdLS or non) is SO unique and special that you can't stereotype her into what she will be like. She seems to have a pretty mild case, but we do know she is facing some developmental delays, especially in speech and communication. We don't know a lot of things, but what we do know is we get the privilege of loving her every single day, encouraging her to be the best she can be, and letting her write her own story. Not really so different from any other child I think...

It is taking a lot of courage for me to post this... Part of me wants to go on "pretending" nothing is wrong, but I know that we won't be able to experience the full blessings Ella is bringing into our lives if we don't open ourselves up to share our story with others. At first I thought this diagnosis was the absolute end of the world, but I am beginning to see it is as just a different path that has and will continue to bring numerous wonderful things into our lives. All I ask is that you continue to see Ella as the beautiful unique girl that she is-please don't label her or any other child with special needs based on what they can't do. There are so many amazing things to see when you take the time to look a little deeper. Thanks for reading! I am excited to share more about Ella and our lives. :)


  1. Maria your daughter IS perfect!! and adorable to boot!! Keep strong!

  2. Maria and JJ,
    Your Ella is beautiful and a gift from God just like your two beautiful boys! Thank you for opening up and sharing your journey. I know only bits and pieces that I get from you JJ but knowing you and Maria the way I do and how great you were when you worked for will do great and Ella couldn't have been given better parents! :) Hugs/love and support to you and your family! Enjoy your blessing and just take it one day at a time! Enjoy each minute because as you know from your first goes sooo fast! Shannon

  3. Maria, what a wonderful way to share what you have been facing with Miss Ella and you are handling it with strength, dignity and grace - I've seen you in action and you are amazing. Thank you for letting us share in your journey - I'm sure you will help many people, including yourself. I heard once that sorrow shared is halved and joy shared is doubled. Maybe that's true. I don't think of Ella as a handicapped or disabled child - she's just Ella. Pretty and pink and perfect! And she has the most amazing parents in the world. Bless you all and keep writing! I can't wait to read the next installment. Sharon

  4. I worked with someone once who put it wonderfully (in my opinion). She said that God only gives special parents 'special' children because he never gives you anything you can't handle so He must know what a special family you are. Ella will do so many things that will surprise you every day. There is a grieving process you will go through your whole life. I see parents go through it each time a new milestone comes up. Never let that take away the joy and pride you have in her. I will never forget how much my heart sank when I found out about payson's eye (I still can't bring myself to say she has Duane's syndrome most of the time) I still went through a grieving process and sometimes still do. I worry she won't be able to drive or will be made fun of or won't be asked be asked to prom because of it. People will tell me that's she's just fine and not to worry but I work in the field where I see all sides of children with special needs, and that's not necessarily good. I enjoy every moment I have with her but sometimes those thoughts creep up. There's nothing I can do but wait and see what happens and sometimes that's frustrating. Early intervention works wonders and I'm sure u are and will continue to do everything to make sure Ella is successful at all challenges presented to her.

  5. Maria, thanks for sharing. Ella is an amazing little girl, that has so much to offer the world. And what a lucky girl to have a family that is encouraging her to be the best person she can be! Isn't that what we ALL want for our kids?

  6. Ella is such a beautiful little girl, Maria! And you are such an awesome mommy!!

  7. Maria, she is beautiful and perfect, just how the Lord made her and I know that she will touch others with how amazing she is :) You are so strong, but don't ever think yourself strong enough to not need others.....we are here for you and your family! I am so glad you started this blog, because I know through it you will not only touch others, but be helped yourself. Thank you for sharing in this journey you are on.

  8. hi maria!
    i love your story. it is beautiful and unique and perfect, and it is all yours. thank you for the educational part of this story, i had no idea what cdls was. i am a huge google girl too and have been looking at cdls sites. ella has already taught me personally so much. I am so glad to *meet* you, ella and your boys on this blog and look forward to reading up on y'all and watching ella's growth! big hugs to you!

    1. thank you so much! That really means a lot. And I really appreciate you taking the time to educate yourself too! Ella has taught me that there really is no "normal" and there are so many people who are different in all kinds of ways.. love that girl! :)

  9. I've visited your blog a couple of times through the Hop, glad I took the time to read Ella's story this time! I am the type of person who turns inward as well, good for you for sharing your struggles! God will use your sweet Ella for great things in His kingdom, He doesn't make mistakes :)

  10. I love how you wrote this.. I TOTALLY GET IT! Our Sparks Family day of Thankfulness is on my blog, and has a fast sum of a similar days, weeks..
    Thanks for sharing!

  11. Your blog is wonderful, and your story is inspiring!
    I would love to share with you the story of another little miracle with CdLS.
    Meet Graysen: